Items where Author or Editor is "Thiele, Holger" - Kölner UniversitätsPublikationsServer

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Number of items: 231.

Adam, Ronja, Spier, Isabel, Zhao, Bixiao ORCID: 0000-0002-1775-1690, Kloth, Michael, Marquez, Jonathan, Hinrichsen, Inga, Kirfel, Jutta, Tafazzoli, Aylar, Horpaopan, Sukanya, Uhlhaas, Siegfried, Stienen, Dietlinde, Friedrichs, Nicolaus, Altmueller, Janine, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Kayser, Katrin, Thiele, Holger, Holinski-Feder, Elke, Marra, Giancarlo, Kristiansen, Glen, Noethen, Markus M., Buettner, Reinhard, Moeslein, Gabriela, Betz, Regina C., Brieger, Angela, Lifton, Richard P. and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2016). Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am. J. Hum. Genet., 99 (2). S. 337 - 352. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Ahmad, Farooq, Nasir, Abdul ORCID: 0000-0002-2339-3500, Thiele, Holger, Umair, Muhammad, Borck, Guntram and Ahmad, Wasim (2018). A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. Ann. Hum. Genet., 82 (4). S. 232 - 239. HOBOKEN: WILEY. ISSN 1469-1809

Ahmad, Ilyas ORCID: 0000-0003-4845-9227, Khan, Ayaz ORCID: 0000-0002-4743-7387, Noor Ul Ayan, Hafiza, Budde, Birgit, Altmueller, Janine, Korejo, Asad Aslam, Nurnberg, Gudrun, Thiele, Holger, Tariq, Muhmmad, Nuernberg, Peter and Erdmann, Jeanette (2023). A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family. J. Hum. Genet., 68 (2). S. 107 - 110. LONDON: SPRINGERNATURE. ISSN 1435-232X

Alston, Charlotte L., Heidler, Juliana, Dibley, Marris G., Kremer, Laura S., Taylor, Lucie S., Fratter, Carl, French, Courtney E., Glasgow, Ruth I. C., Feichtinger, Rene G., Delon, Isabelle, Pagnamenta, Alistair T., Dolling, Helen, Lemonde, Hugh, Aiton, Neil ORCID: 0000-0001-9762-1169, Bjornstad, Alf, Henneke, Lisa, Gaertner, Jutta, Thiele, Holger, Tauchmannova, Katerina ORCID: 0000-0002-3745-8790, Quaghebeur, Gerardine, Houstek, Josef ORCID: 0000-0002-8413-4772, Sperl, Wolfgang, Raymond, F. Lucy, Prokisch, Holger, Mayr, Johannes A., McFarland, Robert ORCID: 0000-0002-8833-2688, Poulton, Joanna ORCID: 0000-0002-2460-5587, Ryan, Michael T., Wittig, Ilka, Henneke, Marco and Taylor, Robert W. (2018). Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. Am. J. Hum. Genet., 103 (4). S. 592 - 602. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Altmueller, Janine, Motameny, Susanne, Becker, Christian, Thiele, Holger, Chatterjee, Sreyoshi, Wollnik, Bernd and Nuernberg, Peter (2016). A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product. Biol. Chem., 397 (8). S. 791 - 802. BERLIN: WALTER DE GRUYTER GMBH. ISSN 1437-4315

Ammann, Sandra ORCID: 0000-0003-0385-1890, Schulz, Ansgar, Kraegeloh-Mann, Ingeborg, Dieckmann, Nele M. G., Niethammer, Klaus, Fuchs, Sebastian ORCID: 0000-0001-9191-7970, Eckl, Katja Martina, Plank, Roswitha, Werner, Roland, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Bank, Julia, Strauss, Anne, von Bernuth, Horst, zur Stadt, Udo, Grieve, Samantha, Griffiths, Gillian M., Lehmberg, Kai, Hennies, Hans Christian and Ehl, Stephan (2016). Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). S. 997 - 1007. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer ORCID: 0000-0002-4412-7391, Abdullah, Uzma, Honing, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmuller, Janine ORCID: 0000-0003-4372-1521, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Fortugno, Paola, White, Susan M., Krawitz, Peter, Hurst, Anna C. E., Niefind, Karsten ORCID: 0000-0002-0183-6315, Jose, Joachim ORCID: 0000-0002-0666-2676, Brancati, Francesco, Nurnberg, Peter and Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 (2022). De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. Hum. Genet. Genom. Adv., 3 (3). AMSTERDAM: ELSEVIER. ISSN 2666-2477

Asif, Maria, Mocanu, Ionut Dragos, Abdullah, Uzma, Hoehne, Wolfgang, Altmueller, Janine, Makhdoom, Ehtisham Ul Haq, Thiele, Holger, Baig, Shahid Mahmood, Nuernberg, Peter, Graul-Neumann, Luitgard and Hussain, Muhammad Sajid (2022). A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family. Am. J. Med. Genet. A, 188 (4). S. 1251 - 1259. HOBOKEN: WILEY. ISSN 1552-4833

Baessler, Bettina ORCID: 0000-0002-3244-3864, Luecke, Christian, Lorz, Julia, Klingel, Karin, von Roeder, Maximilian, de Waha, Suzanne, Besler, Christian, Maintz, David, Gutberlet, Matthias, Thiele, Holger and Lurz, Philipp (2018). Cardiac MRI Texture Analysis of T1 and T2 Maps in Patients with Infarctlike Acute Myocarditis. Radiology, 289 (2). S. 357 - 366. OAK BROOK: RADIOLOGICAL SOC NORTH AMERICA. ISSN 0033-8419

Baigent, Colin, Windecker, Stephan, Andreini, Daniele, Arbelo, Elena, Barbato, Emanuele, Bartorelli, Antonio L., Baumbach, Andreas, Behr, Elijah R., Berti, Sergio, Bueno, Hector ORCID: 0000-0003-0277-7596, Capodanno, Davide, Cappato, Riccardo, Chieffo, Alaide, Collet, Jean-Philippe, Cuisset, Thomas, de Simone, Giovanni, Delgado, Victoria ORCID: 0000-0002-9841-2737, Dendale, Paul, Dudek, Dariusz, Edvardsen, Thor ORCID: 0000-0002-3800-765X, Elvan, Arif, Gonzalez-Juanatey, Jose R., Gori, Mauro, Grobbee, Diederick, Guzik, Tomasz J., Halvorsen, Sigrun, Haude, Michael, Heidbuchel, Hein, Hindricks, Gerhard, Ibanez, Borja, Karam, Nicole ORCID: 0000-0002-3861-6914, Katus, Hugo, Klok, Fredrikus A., Konstantinides, Stavros, V, Landmesser, Ulf, Leclercq, Christophe, Leonardi, Sergio, Lettino, Maddalena, Marenzi, Giancarlo, Mauri, Josepa, Metra, Marco, Morici, Nuccia, Mueller, Christian, Petronio, Anna Sonia, Polovina, Marija M., Potpara, Tatjana, Praz, Fabien, Prendergast, Bernard, Prescott, Eva, Price, Susanna, Pruszczyk, Piotr, Rodriguez-Leor, Oriol ORCID: 0000-0003-2657-5657, Roffi, Marco, Romaguera, Rafael, Rosenkranz, Stephan, Sarkozy, Andrea, Scherrenberg, Martijn, Seferovic, Petar, Senni, Michele, Spera, Francesco R., Stefanini, Giulio ORCID: 0000-0002-3558-6967, Thiele, Holger, Tomasoni, Daniela, Torracca, Lucia ORCID: 0000-0003-2689-9440, Touyz, Rhian M., Wilde, Arthur A. and Williams, Bryan ORCID: 0000-0002-8094-1841 (2022). ESC guidance for the diagnosis and management of cardiovascular disease during the COVID-19 pandemic: part 2-care pathways, treatment, and follow-up. Eur. Heart J., 43 (11). S. 1059 - 1104. OXFORD: OXFORD UNIV PRESS. ISSN 1522-9645

Baigent, Colin, Windecker, Stephan, Andreini, Daniele, Arbelo, Elena, Barbato, Emanuele, Bartorelli, Antonio L., Baumbach, Andreas, Behr, Elijah R., Berti, Sergio, Bueno, Hector ORCID: 0000-0003-0277-7596, Capodanno, Davide, Cappato, Riccardo, Chieffo, Alaide, Collet, Jean-Philippe, Cuisset, Thomas, de Simone, Giovanni, Delgado, Victoria ORCID: 0000-0002-9841-2737, Dendale, Paul, Dudek, Dariusz, Edvardsen, Thor ORCID: 0000-0002-3800-765X, Elvan, Arif, Gonzalez-Juanatey, Jose R., Gori, Mauro, Grobbee, Diederick, Guzik, Tomasz J., Halvorsen, Sigrun, Haude, Michael, Heidbuchel, Hein, Hindricks, Gerhard, Ibanez, Borja, Karam, Nicole, Katus, Hugo, Klok, Fredrikus A., Konstantinides, Stavros, V, Landmesser, Ulf, Leclercq, Christophe, Leonardi, Sergio, Lettino, Maddalena, Marenzi, Giancarlo, Mauri, Josepa, Metra, Marco, Morici, Nuccia, Mueller, Christian, Petronio, Anna Sonia, Polovina, Marija M., Potpara, Tatjana, Praz, Fabien, Prendergast, Bernard, Prescott, Eva, Price, Susanna, Pruszczyk, Piotr, Rodriguez-Leor, Oriol ORCID: 0000-0003-2657-5657, Roffi, Marco, Romaguera, Rafael, Rosenkranz, Stephan, Sarkozy, Andrea, Scherrenberg, Martijn, Seferovic, Petar, Senni, Michele, Spera, Francesco R., Stefanini, Giulio ORCID: 0000-0002-3558-6967, Thiele, Holger, Tomasoni, Daniela, Torracca, Luccia, Touyz, Rhian M., Wilde, Arthur A. and Williams, Bryan (2022). ESC guidance for the diagnosis and management of cardiovascular disease during the COVID-19 pandemic: part 2-care pathways, treatment, and follow-up. Cardiovasc. Res., 118 (7). S. 1618 - 1667. OXFORD: OXFORD UNIV PRESS. ISSN 1755-3245

Baigent, Colin ORCID: 0000-0003-4856-7420, Windecker, Stephan, Andreini, Daniele, Arbelo, Elena, Barbato, Emanuele, Bartorelli, Antonio L., Baumbach, Andreas, Behr, Elijah R., Berti, Sergio, Bueno, Hector ORCID: 0000-0003-0277-7596, Capodanno, Davide, Cappato, Riccardo, Chieffo, Alaide, Collet, Jean-Philippe, Cuisset, Thomas, de Simone, Giovanni, Delgado, Victoria ORCID: 0000-0002-9841-2737, Dendale, Paul, Dudek, Dariusz, Edvardsen, Thor ORCID: 0000-0002-3800-765X, Elvan, Arif, Gonzalez-Juanatey, Jose R., Gori, Mauro, Grobbee, Diederick, Guzik, Tomasz J., Halvorsen, Sigrun, Haude, Michael, Heidbuchel, Hein, Hindricks, Gerhard, Ibanez, Borja, Karam, Nicole, Katus, Hugo, Klok, Fredrikus A., Konstantinides, Stavros, V, Landmesser, Ulf, Leclercq, Christophe, Leonardi, Sergio, Lettino, Maddalena, Marenzi, Giancarlo, Mauri, Josepa, Metra, Marco, Morici, Nuccia, Mueller, Christian, Petronio, Anna Sonia, Polovina, Marija M., Potpara, Tatjana, Praz, Fabien, Prendergast, Bernard, Prescott, Eva, Price, Susanna, Pruszczyk, Piotr, Rodriguez-Leor, Oriol ORCID: 0000-0003-2657-5657, Roffi, Marco, Romaguera, Rafael, Rosenkranz, Stephan, Sarkozy, Andrea, Scherrenberg, Martijn, Seferovic, Petar, Senni, Michele, Spera, Francesco R., Stefanini, Giulio ORCID: 0000-0002-3558-6967, Thiele, Holger, Tomasoni, Daniela, Torracca, Luccia, Touyz, Rhian M., Wilde, Arthur A. and Williams, Bryan (2022). European Society of Cardiology guidance for the diagnosis and management of cardiovascular disease during the COVID-19 pandemic: part 1-epidemiology, pathophysiology, and diagnosis. Cardiovasc. Res., 118 (6). S. 1385 - 1413. OXFORD: OXFORD UNIV PRESS. ISSN 1755-3245

Baigent, Colin, Windecker, Stephan, Andreini, Daniele, Arbelo, Elena, Barbato, Emanuele, Bartorelli, Antonio L., Baumbach, Andreas, Behr, Elijah R., Berti, Sergio, Bueno, Hector ORCID: 0000-0003-0277-7596, Capodanno, Davide, Cappato, Riccardo, Chieffo, Alaide, Collet, Jean-Philippe, Cuisset, Thomas, de Simone, Giovanni, Delgado, Victoria ORCID: 0000-0002-9841-2737, Dendale, Paul, Dudek, Dariusz, Edvardsen, Thor ORCID: 0000-0002-3800-765X, Elvan, Arif, Gonzalez-Juanatey, Jose R., Gori, Mauro, Grobbee, Diederick, Guzik, Tomasz J., Halvorsen, Sigrun, Haude, Michael, Heidbuchel, Hein, Hindricks, Gerhard, Ibanez, Borja, Karam, Nicole ORCID: 0000-0002-3861-6914, Katus, Hugo, Klok, Fredrikus A., Konstantinides, Stavros, V, Landmesser, Ulf, Leclercq, Christophe, Leonardi, Sergio, Lettino, Maddalena, Marenzi, Giancarlo, Mauri, Josepa, Metra, Marco, Morici, Nuccia, Mueller, Christian, Petronio, Anna Sonia, Polovina, Marija M., Potpara, Tatjana, Praz, Fabien, Prendergast, Bernard, Prescott, Eva, Price, Susanna, Pruszczyk, Piotr, Rodriguez-Leor, Oriol ORCID: 0000-0003-2657-5657, Roffi, Marco, Romaguera, Rafael, Rosenkranz, Stephan, Sarkozy, Andrea, Scherrenberg, Martijn, Seferovic, Petar, Senni, Michele, Spera, Francesco R., Stefanini, Giulio ORCID: 0000-0002-3558-6967, Thiele, Holger, Tomasoni, Daniela, Torracca, Luccia, Touyz, Rhian M., Wilde, Arthur A. and Williams, Bryan ORCID: 0000-0002-8094-1841 (2022). European Society of Cardiology guidance for the diagnosis and management of cardiovascular disease during the COVID-19 pandemic: part 1-epidemiology, pathophysiology, and diagnosis The Task Force for the management of COVID-19 of the European Society of Cardiology. Eur. Heart J., 43 (11). S. 1033 - 1059. OXFORD: OXFORD UNIV PRESS. ISSN 1522-9645

Baldus, Stephan, Bauersachs, Johann, Beckmann, Andreas, Bleiziffer, Sabine, Boening, Andreas, Conradi, Lenard, Ensminger, Stephan, Falk, Volkmar, Frerker, Christian, Liebetrau, Christoph, Moellmann, Helge, Rudolph, Volker, Schaechinger, Volker, Schulze, P. Christian, Thiele, Holger, Walther, Thomas and Beyersdorf, Friedhelm (2022). Joint comments of the German Cardiac Society (DGK) and the German Society for Thoracic and Cardiovascular Surgery (DGTHG) on the guidelines of the ESC/EACTS on management of valvular heart diseases. Kardiologie, 16 (4). S. 270 - 279. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 2731-7137

Baldus, Stephan, Bauersachs, Johann, Beckmann, Andreas, Bleiziffer, Sabine, Boning, Andreas, Conradi, Lenard, Ensminger, Stephan, Falk, Volkmar, Frerker, Christian, Liebetrau, Christoph, Mollmann, Helge, Rudolph, Volker, Schachinger, Volker, Schulze, P. Christian, Thiele, Holger, Walther, Thomas and Beyersdorf, Friedhelm (2022). Joint comments of the German Cardiac Society (DGK) and the German Society for Thoracic and Cardiovascular Surgery (DGTHG) on the guidelines of the ESC/EACTS on management of valvular heart diseases. Z. Herz Thorax Gefasschir., 36 (4). S. 243 - 253. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1435-1277

Balogh, Eszter ORCID: 0000-0003-2813-4759, Chandler, Jennifer C. ORCID: 0000-0001-9785-4528, Varga, Mate ORCID: 0000-0003-4289-1705, Tahoun, Mona, Menyhard, Dora K., Schay, Gusztav, Goncalves, Tomas ORCID: 0000-0002-3342-0461, Hamar, Renata, Legradi, Regina ORCID: 0000-0002-5634-4000, Szekeres, Akos, Gribouval, Olivier, Kleta, Robert, Stanescu, Horia, Bockenhauer, Detlef, Kerti, Andrea, Williams, Hywel, Kinsler, Veronica, Di, Wei-Li, Curtis, David, Kolatsi-Joannou, Maria, Hammid, Hafsa, Szocs, Anna, Perczel, Kristof, Maka, Erika, Toldi, Gergely, Sava, Florentina, Arrondel, Christelle, Kardos, Magdolna, Fintha, Attila, Hossain, Ahmed, D'Arco, Felipe, Kaliakatsos, Mario, Koeglmeier, Jutta, Mifsud, William, Moosajee, Mariya, Faro, Ana, Javorszky, Eszter, Rudas, Gabor, Saied, Marwa H., Marzouk, Salah, Kelen, Kata, Gotze, Judit, Reusz, George, Tulassay, Tivadar, Dragon, Francois, Mollet, Geraldine, Motameny, Susanne, Thiele, Holger ORCID: 0000-0002-0169-998X, Dorval, Guillaume ORCID: 0000-0003-3883-1398, Nurnberg, Peter, Perczel, Andras, Szabo, Attila J., Long, David A., Tomita, Kazunori, Antignac, Corinne, Waters, Aoife M. and Tory, Kalman (2020). Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc. Natl. Acad. Sci. U. S. A., 117 (26). S. 15137 - 15148. WASHINGTON: NATL ACAD SCIENCES. ISSN 0027-8424

Bamborschke, Daniel, Oezdemir, Oezkan, Kreutzer, Mona, Motameny, Susanne, Thiele, Holger ORCID: 0000-0002-0169-998X, Kribs, Angela, Doetsch, Joerg, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2021). Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours. Am. J. Med. Genet. A, 185 (1). S. 90 - 97. HOBOKEN: WILEY. ISSN 1552-4833

Bartram, Malte P., Habbig, Sandra, Pahmeyer, Caroline, Hoehne, Martin, Weber, Lutz T., Thiele, Holger, Altmueller, Janine, Kottoor, Nina, Wenzel, Andrea, Krueger, Marcus ORCID: 0000-0003-2008-4582, Schermer, Bernhard ORCID: 0000-0002-5194-9000, Benzing, Thomas, Rinschen, Markus M. and Beck, Bodo B. (2016). Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS. Hum. Mol. Genet., 25 (6). S. 1152 - 1165. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Basel-Vanagaite, Lina, Dallapiccola, Bruno ORCID: 0000-0002-5031-1013, Ramirez-Solis, Ramiro ORCID: 0000-0003-4182-173X, Segref, Alexandra ORCID: 0000-0001-8095-4469, Thiele, Holger, Edwards, Andrew, Arends, Mark J., Miro, Xavier, White, Jacqueline K., Desir, Julie, Abramowicz, Marc ORCID: 0000-0003-0623-8768, Dentici, Maria Lisa, Lepri, Francesca, Hofmann, Kay, Har-Zahav, Adi, Ryder, Edward ORCID: 0000-0002-1799-9899, Karp, Natasha A., Estabel, Jeanne, Gerdin, Anna-Karin B., Podrini, Christine ORCID: 0000-0002-5391-3378, Ingham, Neil J., Altmueller, Janine, Nuernberg, Gudrun, Frommolt, Peter ORCID: 0000-0002-1966-8014, Abdelhak, Sonia ORCID: 0000-0001-8466-5525, Pasmanik-Chor, Metsada, Konen, Osnat, Kelley, Richard I., Shohat, Mordechai, Nuernberg, Peter, Flint, Jonathan, Steel, Karen P., Hoppe, Thorsten ORCID: 0000-0002-4734-9352, Kubisch, Christian ORCID: 0000-0003-4220-0978, Adams, David J. and Borck, Guntram (2012). Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome. Am. J. Hum. Genet., 91 (6). S. 998 - 1011. CAMBRIDGE: CELL PRESS. ISSN 0002-9297

Basel-Vanagaite, Lina, Hershkovitz, Tova, Heyman, Eli, Raspall-Chaure, Miguel, Kakar, Naseebullah, Smirin-Yosef, Pola, Vila-Pueyo, Marta ORCID: 0000-0003-0652-2988, Kornreich, Liora, Thiele, Holger, Bode, Harald, Lagovsky, Irina, Dahary, Dvir, Haviv, Ami, Hubshman, Monika Weisz, Pasmanik-Chor, Metsada, Nuernberg, Peter, Gothelf, Doron, Kubisch, Christian ORCID: 0000-0003-4220-0978, Shohat, Mordechai, Macaya, Alfons and Borck, Guntram (2013). Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum. Am. J. Hum. Genet., 93 (3). S. 524 - 530. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Basmanav, F. Buket, Cesarato, Nicole, Kumar, Sheetal ORCID: 0000-0002-5240-079X, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J., Wehner, Maria, Axt, Daisy, Xiong, Xing ORCID: 0000-0001-5728-150X, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish ORCID: 0000-0001-9037-701X, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Bartels, Natalie Garcia, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poor, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina ORCID: 0000-0001-9993-7319, Medvecz, Marta, Blume-Peytavi, Ulrike, Farrant, Paul, Grimalt, Ramon, Bertok, Sara, Bradley, Lisa, Eskin-Schwartz, Marina, Birk, Ohad Samuel, Bygum, Anette ORCID: 0000-0002-3004-0180, Simon, Michel ORCID: 0000-0003-3655-6329, Krawitz, Peter, Fischer, Christine, Hamm, Henning, Fritz, Gunter and Betz, Regina C. (2022). Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals. JAMA Dermatol., 158 (11). S. 1245 - 1254. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6084

Basmanav, F. Buket, Fritz, Guenter ORCID: 0000-0002-4571-8812, Lestringant, Gilles G., Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes ORCID: 0000-0002-2079-1845, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmueller, Janine, Pulimood, Susanne A., Ruetten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette ORCID: 0000-0002-3004-0180 and Betz, Regina C. (2015). Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. J. Invest. Dermatol., 135 (2). S. 615 - 619. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1523-1747

Basmanav, F. Buket, Oprisoreanu, Ana-Maria ORCID: 0000-0002-9409-0830, Pasternack, Sandra M., Thiele, Holger, Fritz, Guenter ORCID: 0000-0002-4571-8812, Wenzel, Joerg, Groesser, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette ORCID: 0000-0002-3004-0180, Altmueller, Janine, Ruetten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nuernberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra and Betz, Regina C. (2014). Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. Am. J. Hum. Genet., 94 (1). S. 135 - 144. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Basmanav, F. Buket U., Cau, Laura ORCID: 0000-0002-2480-536X, Tafazzoli, Aylar, Mechin, Marie-Claire, Wolf, Sabrina, Romano, Maria Teresa, Valentin, Frederic, Wiegmann, Henning, Huchenq, Anne, Kandil, Rima, Bartels, Natalie Garcia, Kilic, Arzu, George, Susannah, Ralser, Damian J., Bergner, Stefan, Ferguson, David J. P., Oprisoreanu, Ana-Maria ORCID: 0000-0002-9409-0830, Wehner, Maria, Thiele, Holger, Altmueller, Janine, Nuerenberg, Peter, Swan, Daniel ORCID: 0000-0001-8978-8129, Houniet, Darren, Buechner, Aline, Weibel, Lisa, Wagner, Nicola, Grimalt, Ramon, Bygum, Anette ORCID: 0000-0002-3004-0180, Serre, Guy, Blume-Peytavi, Ulrike, Sprecher, Eli, Schoch, Susanne, Oji, Vinzenz ORCID: 0000-0003-1380-4828, Hamm, Henning, Farrant, Paul, Simon, Michel ORCID: 0000-0003-3655-6329 and Betz, Regina C. (2016). Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am. J. Hum. Genet., 99 (6). S. 1292 - 1305. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Beck, Bodo B., Phillips, Jennifer B., Bartram, Melte P., Wegner, Jeremy, Thoenes, Michaele, Pannes, Andrea, Sampson, Josephina, Heller, Raoul, Goebel, Heike, Koerber, Friederike, Neugebauer, Antje, Hedergott, Andrea, Nuernberg, Gudrun, Nuernberg, Peter, Thiele, Holger, Altmueller, Janine, Toliat, Mohammad R., Staubach, Simon, Boycott, Kym M., Valente, Enza Maria ORCID: 0000-0002-0600-6820, Janecke, Andreas R., Eisenberger, Tobias, Bergmann, Carsten, Tebbe, Lars, Wang, Yang, Wu, Yundong, Fry, Andrew M., Westerfield, Monte, Wolfrum, Uwe and Bolz, Hanno J. (2014). Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy. Hum. Mutat., 35 (10). S. 1153 - 1163. HOBOKEN: WILEY. ISSN 1098-1004

Bobbili, Dheeraj R., Lal, Dennis, May, Patrick ORCID: 0000-0001-8698-3770, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Jurkowski, Wiktor, Feucht, Martha, Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Krause, Roland ORCID: 0000-0001-9938-7126, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz ORCID: 0000-0002-6998-5480, Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Lal, Dennis, Nrnberg, Peter, Sander, Thomas, Thiele, Holger, Krause, Roland ORCID: 0000-0001-9938-7126, May, Patrick ORCID: 0000-0001-8698-3770, Balling, Rudi ORCID: 0000-0003-2902-5650, Lerche, Holger and Neubauer, Bernd A. (2018). Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. Eur. J. Hum. Genet., 26 (2). S. 258 - 265. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Bogs, Thomas, Zwink, Nadine, Chonitzki, Vera, Hoelscher, Alice, Boemers, Thomas M., Muensterer, Oliver ORCID: 0000-0003-2790-4395, Kurz, Ralf, Heydweiller, Andreas, Pauly, Marcus, Leutner, Andreas, Ure, Benno M., Lacher, Martin, Deffaa, Oliver Johannes, Thiele, Holger, Bagci, Soyhan ORCID: 0000-0003-1005-665X, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784, Schumacher, Johannes and Reutter, Heiko (2018). Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup. Eur. J. Pediatr. Surg., 28 (2). S. 176 - 183. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-359X

Borchert, Thomas, Huebscher, Daniela, Guessoum, Celina I., Lam, Tuan-Dinh D., Ghadri, Jelena R., Schellinger, Isabel N., Tiburcy, Malte, Liaw, Norman Y., Li, Yun, Haas, Jan, Sossalla, Samuel, Huber, Mia A., Cyganek, Lukas ORCID: 0000-0001-9120-1382, Jacobshagen, Claudius, Dressel, Ralf, Raaz, Uwe, Nikolaev, Viacheslav O., Guan, Kaomei ORCID: 0000-0002-0753-3083, Thiele, Holger, Meder, Benjamin, Wollnik, Bernd, Zimmermann, Wolfram-Hubertus, Luescher, Thomas F., Hasenfuss, Gerd, Templin, Christian and Streckfuss-Boemeke, Katrin (2017). Catecholamine-Dependent beta-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy. J. Am. Coll. Cardiol., 70 (8). S. 975 - 992. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-3597

Borck, Guntram, Hog, Friederike, Dentici, Maria Lisa, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara ORCID: 0000-0002-4139-0602, Fischetto, Rita, Morris-Rosendahl, Deborah J., Altmuller, Janine, Reymond, Alexandre, Nurnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno ORCID: 0000-0002-5031-1013, Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Cramer, Patrick and Kubisch, Christian ORCID: 0000-0003-4220-0978 (2015). BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. Genome Res., 25 (2). S. 155 - 167. COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 1549-5469

Borck, Guntram, Shin, Byung-Sik, Stiller, Barbara, Mimouni-Bloch, Aviva, Thiele, Holger, Kim, Joo-Ran, Thakur, Meghna, Skinner, Cindy, Aschenbach, Lara, Smirin-Yosef, Pola, Har-Zahav, Adi, Nuernberg, Gudrun, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Hofmann, Kay, Konen, Osnat, Nuernberg, Peter, Munnich, Arnold, Schwartz, Charles E., Gothelf, Doron, Colleaux, Laurence, Dever, Thomas E., Kubisch, Christian ORCID: 0000-0003-4220-0978 and Basel-Vanagaite, Lina (2012). elF2 gamma Mutation that Disrupts elF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation. Mol. Cell, 48 (4). S. 641 - 647. CAMBRIDGE: CELL PRESS. ISSN 1097-2765

Budde, Birgit S., Aly, Maha Abdelgaber, Mohamed, Mostafa R., Bress, Andreas, Altmueller, Janine, Motameny, Susanne, Kawalia, Amit, Thiele, Holger, Konrad, Kathryn, Becker, Christian, Toliat, Mohammad R., Nuernberg, Gudrun, Sayed, Eman Abdel Fattah, Mohamed, Enass Sayed, Pfister, Markus and Nuernberg, Peter (2020). Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clin. Genet., 98 (1). S. 32 - 43. HOBOKEN: WILEY. ISSN 1399-0004

Budde, Birgit S., Mizumoto, Shuji ORCID: 0000-0002-4641-1505, Kogawa, Ryo, Becker, Christian, Altmueller, Janine, Thiele, Holger, Rueschendorf, Franz, Toliat, Mohammad R., Kaleschke, Gerrit, Haemmerle, Johannes M., Hoaehne, Wolfgang, Sugahara, Kazuyuki, Nuernberg, Peter and Kennerknecht, Ingo (2015). Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. Hum. Genet., 134 (7). S. 691 - 705. NEW YORK: SPRINGER. ISSN 1432-1203

Cammann, Victoria L., Sarcon, Annahita, Ding, Katharina J., Seifert, Burkhardt, Kato, Ken ORCID: 0000-0001-6993-5152, Di Vece, Davide, Szawan, Konrad A., Gili, Sebastiano, Jurisic, Stjepan, Bacchi, Beatrice, Micek, Jozef, Frangieh, Antonio H., Napp, L. Christian ORCID: 0000-0001-9945-0842, Jaguszewski, Milosz, Bossone, Eduardo ORCID: 0000-0003-2769-9950, Citro, Rodolfo, D'Ascenzo, Fabrizio ORCID: 0000-0002-6646-9317, Franke, Jennifer, Noutsias, Michel, Knorr, Maike, Heiner, Susanne, Burgdorf, Christof, Koenig, Wolfgang, Thiele, Holger, Tschope, Carsten, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Karakas, Mahir, Banning, Adrian ORCID: 0000-0002-2842-7861, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Dworakowski, Rafal, Kaiser, Christoph, Osswald, Stefan ORCID: 0000-0002-9240-6731, Galiuto, Leonarda, Dichtl, Wolfgang ORCID: 0000-0002-0421-2110, Delmas, Clement ORCID: 0000-0001-9180-9128, Lairez, Olivier, Horowitz, John D., Kozel, Martin, Widimsky, Petr, Tousek, Petr, Winchester, David E., Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, El-Battrawy, Ibrahim, Akin, Ibrahim, Ukena, Christian, Bauersachs, Johann, Pieske, Burkert M., Hasenfuss, Gerd, Rottbauer, Wolfgang, Braun-Dullaeus, Ruediger C., Opolski, Grzegorz, MacCarthy, Philip, Felix, Stephan B., Borggrefe, Martin, Di Mario, Carlo, Crea, Filippo, Katus, Hugo A., Schunkert, Heribert, Munzel, Thomas, Bohm, Michael, Bax, Jeroen J., Prasad, Abhiram, Shinbane, Jerold, Luscher, Thomas F., Ruschitzka, Frank, Ghadri, Jelena R. and Templin, Christian (2019). Clinical Features and Outcomes of Patients With Malignancy and Takotsubo Syndrome: Observations From the International Takotsubo Registry. J. Am. Heart Assoc., 8 (15). HOBOKEN: WILEY. ISSN 2047-9980

Cammann, Victoria L., Szawan, Konrad A., Stahli, Barbara E., Kato, Ken, Budnik, Monika, Wischnewsky, Manfred, Dreiding, Sara, Levinson, Rena A., Di Vece, Davide, Gili, Sebastiano, Citro, Rodolfo, Bossone, Eduardo, Neuhaus, Michael, Franke, Jennifer, Meder, Benjamin, Jaguszewski, Milosz, Noutsias, Michel, Knorr, Maike, Heiner, Susanne, D'Ascenzo, Fabrizio, Dichtl, Wolfgang, Burgdorf, Christof, Kherad, Behrouz, Tschope, Carsten, Sarcon, Annahita, Shinbane, Jerold, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Karakas, Mahir, Koenig, Wolfgang, Pott, Alexander, Meyer, Philippe, Roffi, Marco, Banning, Adrian, Wolfrum, Mathias, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Napp, L. Christian ORCID: 0000-0001-9945-0842, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan, Galiuto, Leonarda, Chan, Christina, Bridgman, Paul, Beug, Daniel, Delmas, Clement, Lairez, Olivier, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, El-Battrawy, Ibrahim, Akin, Ibrahim, Polednikova, Karolina, Tous, Petr, Winchester, David E., Galuszka, Jan, Ukena, Christian, Poglajen, Gregor, Carrilho-Ferreira, Pedro, Hauck, Christian, Paolini, Carla, Bilato, Claudio ORCID: 0000-0003-3474-0579, Kobayashi, Yoshio, Shoji, Toshihiro, Ishibashi, Iwao, Takahara, Masayuki, Himi, Toshiharu, Din, Jehangir, Al-Shammari, Ali, Prasad, Abhiram, Rihal, Charanjit S., Liu, Kan, Schulze, P. Christian, Bianco, Matteo, Jorg, Lucas, Rickli, Hans, Pestana, Goncalo, Nguyen, Thanh H., Bohm, Michael, Maier, Lars S., Pinto, Fausto J., Widimsky, Petr, Felix, Stephan B., Braun-Dullaeus, Ruediger C., Rottbauer, Wolfgang, Hasenfuss, Gerd, Pieske, Burkert M., Schunkert, Heribert, Borggrefe, Martin, Thiele, Holger ORCID: 0000-0002-0169-998X, Bauersachs, Johann, Katus, Hugo A., Horowitz, John D., Di Mario, Carlo, Muenzel, Thomas ORCID: 0000-0001-5503-4150, Crea, Filippo, Bax, Jeroen J., Luscher, Thomas F., Ruschitzka, Frank, Ghadri, Jelena R., Opolski, Grzegorz and Templin, Christian (2020). Age -Related Variations in Takotsubo Syndrome. J. Am. Coll. Cardiol., 75 (16). S. 1869 - 1878. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-3597

Cesarato, Nicole, Wehner, Maria, Ghughunishvili, Mariam, Schmidt, Axel, Axt, Daisy, Thiele, Holger, Lentze, Michael J., Has, Cristina ORCID: 0000-0001-6066-507X, Geyer, Matthias ORCID: 0000-0002-7718-5002, Basmanav, Fitnat Buket and Betz, Regina C. (2021). Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes. Am. J. Med. Genet. A, 185 (12). S. 3900 - 3905. HOBOKEN: WILEY. ISSN 1552-4833

Coelho, David ORCID: 0000-0001-7010-5789, Kim, Jaeseung C., Miousse, Isabelle R. ORCID: 0000-0001-6543-3219, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nuernberg, Peter, Thiele, Holger, Robenek, Horst, Hoehne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A., Majewski, Jacek, Rosenblatt, David S., Fowler, Brian, Rutsch, Frank and Baumgartner, Matthias R. (2012). Mutations in ABCD4 cause a new inborn error of vitamin B-12 metabolism. Nature Genet., 44 (10). S. 1152 - 1158. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1061-4036

D'Ascenzo, Fabrizio ORCID: 0000-0002-6646-9317, Gili, Sebastiano, Bertaina, Maurizio ORCID: 0000-0001-5727-4107, Iannaccone, Mario ORCID: 0000-0003-0571-3918, Cammann, Victoria L., Di Vece, Davide, Kato, Ken, Saglietto, Andrea ORCID: 0000-0001-9475-1507, Szawan, Konrad A., Frangieh, Antonio H., Boffini, Beatrice, Annaratone, Margherita, Sarcon, Annahita, Levinson, Rena A., Franke, Jennifer, Napp, L. Christian ORCID: 0000-0001-9945-0842, Jaguszewski, Milosz, Noutsias, Michel, Muenzel, Thomas ORCID: 0000-0001-5503-4150, Knorr, Maike, Heiner, Susanne, Katus, Hugo A., Burgdorf, Christof, Schunkert, Heribert, Thiele, Holger ORCID: 0000-0002-0169-998X, Bauersachs, Johann, Tschoepe, Carsten, Pieske, Burkert M., Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Hasenfuss, Gerd, Karakas, Mahir, Koenig, Wolfgang, Rottbauer, Wolfgang, Said, Samir M., Braun-Dullaeus, Ruediger C., Banning, Adrian ORCID: 0000-0002-2842-7861, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Opolski, Grzegorz, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan, Galiuto, Leonarda, Crea, Filippo, Dichtl, Wolfgang, Franz, Wolfgang M., Empen, Klaus, Felix, Stephan B., Delmas, Clement, Lairez, Olivier, El-Battrawy, Ibrahim, Akin, Ibrahim, Borggrefe, Martin, Horowitz, John D., Kozel, Martin, Tousek, Petr, Widimsky, Petr, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Biondi-Zoccai, Giuseppe ORCID: 0000-0001-6103-8510, Winchester, David E., Ukena, Christian, Neuhaus, Michael, Bax, Jeroen J., Prasad, Abhiram, Di Mario, Carlo, Boehm, Michael, Gasparini, Mauro, Ruschitzka, Frank, Bossone, Eduardo, Citro, Rodolfo, Rinaldi, Mauro, De Ferrari, Gaetano Maria, Luscher, Thomas, Ghadri, Jelena R. and Templin, Christian (2020). Impact of aspirin on takotsubo syndrome: a propensity score-based analysis of the InterTAK Registry. Eur. J. Heart Fail., 22 (2). S. 330 - 338. HOBOKEN: WILEY. ISSN 1879-0844

Dafsari, Hormos Salimi, Kawalia, Amit, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Karakaya, Mert, Malenica, Anna, Herkenrath, Peter, Nuernberg, Peter, Motameny, Susanne, Thiele, Holger and Cirak, Sebahattin (2019). Novel mutations in SLC6A5 with benign course in hyperekplexia. Cold Spring Harb. Mol. Case Stud., 5 (6). COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 2373-2873

Dafsari, Hormos Salimi, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Wunderlich, Gilbert, Daimagueler, Huelya-Sevcan, Karaca, Ezgi ORCID: 0000-0002-4926-7991, Contreras, Adriana, Becker, Kerstin, Schulze-Rhonhof, Mira, Kiening, Karl, Karakulak, Tulay ORCID: 0000-0002-4644-2774, Kloss, Manja, Horn, Annette, Pauls, Amande, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Assmann, Birgit, Koy, Anne and Cirak, Sebahattin (2019). Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J. Hum. Genet., 64 (8). S. 803 - 814. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

Daimagueler, Huelya-Sevcan, Akpulat, Ugur, Oezdemir, Oezkan, Yis, Uluc, Gungor, Serdal, Talim, Beril, Diniz, Gulden, Baydan, Figen, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2021). Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey. Am. J. Med. Genet. A, 185 (6). S. 1678 - 1691. HOBOKEN: WILEY. ISSN 1552-4833

Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Neuhann, Teresa, Kahlert, Anne-Karin, Klink, Barbara, Hackmann, Karl, Neuhann, Irmingard, Novotna, Barbora, Schallner, Jens, Krause, Claudia, Glass, Ian A., Parnell, Shawn E., Benet-Pages, Anna, Nissen, Anke M., Berger, Wolfgang, Altmueller, Janine, Thiele, Holger, Weber, Bernhard H. F., Schrock, Evelin, Dobyns, William B., Bier, Andrea and Rump, Andreas ORCID: 0000-0001-7116-6364 (2016). Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J. Med. Genet., 53 (6). S. 419 - 426. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Doenst, Torsten, Thiele, Holger, Haasenritter, Joerg, Wahlers, Thorsten, Massberg, Steffen and Haverich, Axel (2022). The Treatment of Coronary Artery Disease Current Status Six Decades After the First Bypass Operation. Dtsch. Arztebl. Int., 119 (42). S. 716 - 724. COLOGNE: DEUTSCHER AERZTE-VERLAG GMBH. ISSN 1866-0452

Doldi, Philipp, Stolz, Lukas, Orban, Mathias ORCID: 0000-0001-7846-8808, Karam, Nicole ORCID: 0000-0002-3861-6914, Praz, Fabien, Kalbacher, Daniel, Lubos, Edith, Braun, Daniel, Adamo, Marianna, Giannini, Cristina, Melica, Bruno, Naebauer, Michael, Higuchi, Satoshi ORCID: 0000-0002-7914-8256, Wild, Mirjam, Neuss, Michael, Butter, Christian, Kassar, Mohammad ORCID: 0000-0002-7576-2224, Petrescu, Aniela, Pfister, Roman, Iliadis, Christos, Unterhuber, Matthias ORCID: 0000-0002-8175-276X, Thiele, Holger, Baldus, Stephan, von Bardeleben, Ralph Stephan, Schofer, Niklas, Hagl, Christian, Petronio, Anna Sonia, Massberg, Steffen, Windecker, Stephan, Lurz, Philipp, Metra, Marco and Hausleiter, Joerg (2022). Transcatheter Mitral Valve Repair in Patients With Atrial Functional Mitral Regurgitation. JACC-Cardiovasc. Imag., 15 (11). S. 1843 - 1852. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1876-7591

Doldi, Philipp M., Stolz, Lukas, Kalbacher, Daniel, Koell, Benedikt, Geyer, Martin, Ludwig, Sebastian, Orban, Mathias, Braun, Daniel, Weckbach, Ludwig T., Stocker, Thomas J., Naebauer, Michael, Higuchi, Satoshi ORCID: 0000-0002-7914-8256, Ruf, Tobias, Da Rocha e Silva, Jaqueline, Wild, Mirjam, Tence, Noemie, Unterhuber, Matthias, Schofer, Niklas, Petrescu, Aniela, Thiele, Holger, Lurz, Philipp, Lubos, Edith, von Bardeleben, Stephan, Karam, Nicole ORCID: 0000-0002-3861-6914, Samim, Daryoush ORCID: 0000-0002-0698-4456, Paradis, Jean-Michel, Iliadis, Christos, Xhepa, Erion ORCID: 0000-0002-0728-2819, Hagl, Christian, Massberg, Steffen and Hausleiter, Joerg (2022). Right ventricular dysfunction predicts outcome after transcatheter mitral valve repair for primary mitral valve regurgitation. Eur. J. Heart Fail., 24 (11). S. 2162 - 2172. HOBOKEN: WILEY. ISSN 1879-0844

Dumont, Martine ORCID: 0000-0002-5488-4839, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna ORCID: 0000-0001-7756-8815, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stephane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallee, Maxime, Fournier, Frederic, Lemacon, Audrey, Adank, Muriel A., Allen, Jamie, Altmueller, Janine, Arnold, Norbert, Ausems, Margreet G. E. M., Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley ORCID: 0000-0002-3280-7154, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R., Dunning, Alison M., Engel, Christoph ORCID: 0000-0002-7247-282X, Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horvath, Judit, Ikram, M. Arf An, Kaulfuss, Silke ORCID: 0000-0003-2577-9711, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M., Niederacher, Dieter, Nurnberg, Peter ORCID: 0000-0002-7228-428X, Ott, Claus-Eric, Peters, Annette ORCID: 0000-0001-6645-0985, Pharoah, Paul D. P., Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stabler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael ORCID: 0000-0003-2589-6440, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F., Devilee, Peter ORCID: 0000-0002-8023-2009, Tavtigian, Sean, Bader, Gary D., Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K., Hahnen, Eric and Simard, Jacques ORCID: 0000-0001-6906-3390 (2022). Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers, 14 (14). BASEL: MDPI. ISSN 2072-6694

Dworschak, Gabriel C., Punetha, Jaya ORCID: 0000-0002-6774-4464, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Heron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan ORCID: 0000-0001-6461-0957, Chung, Wendy K., O'Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo ORCID: 0000-0002-7272-7079, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Oeznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R. and Reutter, Heiko (2021). Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet. Med., 23 (9). S. 1715 - 1726. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1530-0366

Eckl, Katja M., Gruber, Robert, Brennan, Louise, Marriott, Andrew, Plank, Roswitha, Moosbrugger-Martinz, Verena, Blunder, Stefan, Schossig, Anna, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Zschocke, Johannes, Hennies, Hans Christian and Schmuth, Matthias (2021). Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V. Front. Genet., 12. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-8021

Ehmke, Nadja, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valerie, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmueller, Janine, Fischer-Zirnsak, Bjoern, Knaus, Alexej, Zhu, Na ORCID: 0000-0001-6460-3087, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte ORCID: 0000-0002-0583-4683, Horn, Denise, Komak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nuernberg, Peter, Siebert, Reiner, Manzke, Hermann and Mundlos, Stefan (2014). Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome. Am. J. Hum. Genet., 95 (6). S. 763 - 771. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Ehmke, Nadja, Graul-Neumann, Luitgard, Smorag, Lukasz, Koenig, Rainer, Segebrecht, Lara ORCID: 0000-0002-0939-3213, Magoulas, Pilar, Scaglia, Fernando, Kilic, Esra, Hennig, Anna F., Adolphs, Nicolai, Saha, Namrata, Fauler, Beatrix, Kalscheuer, Vera M., Hennig, Friederike, Altmueller, Janine, Netzer, Christian, Thiele, Holger, Nuernberg, Peter, Yigit, Goekhan, Jaeger, Marten, Hecht, Jochen, Krueger, Ulrike, Mielke, Thorsten, Krawitz, Peter M., Horn, Denise, Schuelke, Markus ORCID: 0000-0003-2824-3891, Mundlos, Stefan, Bacino, Carlos A., Bonnen, Penelope E., Wollnik, Bernd, Fischer-Zirnsak, Bjoern and Kornak, Uwe (2017). De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am. J. Hum. Genet., 101 (5). S. 833 - 844. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

El-Battrawy, Ibrahim, Cammann, Victoria L., Kato, Ken, Szawan, Konrad A., Di Vece, Davide, Rossi, Aurelio, Wischnewsky, Manfred, Hermes-Laufer, Julia, Gili, Sebastiano ORCID: 0000-0002-0542-0448, Citro, Rodolfo, Bossone, Eduardo, Neuhaus, Michael, Franke, Jennifer, Meder, Benjamin, Jaguszewski, Milosz, Noutsias, Michel, Knorr, Maike, Heiner, Susanne, D'Ascenzo, Fabrizio, Dichtl, Wolfgang, Burgdorf, Christof, Kherad, Behrouz, Tschoepe, Carsten, Sarcon, Annahita, Shinbane, Jerold, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Karakas, Mahir, Koenig, Wolfgang ORCID: 0000-0002-2064-9603, Pott, Alexander, Meyer, Philippe, Arroja, Jose David, Banning, Adrian, Cuculi, Florim, Kobza, Richard ORCID: 0000-0003-3988-7262, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Napp, L. Christian, Budnik, Monika, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan ORCID: 0000-0002-9240-6731, Galiuto, Leonarda, Chan, Christina, Bridgman, Paul, Beug, Daniel, Delmas, Clement, Lairez, Olivier, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Kozel, Martin, Tousek, Petr, Winchester, David E., Galuszka, Jan, Ukena, Christian, Poglajen, Gregor, Carrilho-Ferreira, Pedro, Hauck, Christian, Paolini, Carla, Bilato, Claudio ORCID: 0000-0003-3474-0579, Kobayashi, Yoshio, Prasad, Abhiram, Rihal, Charanjit S., Liu, Kan, Schulze, P. Christian, Bianco, Matteo ORCID: 0000-0002-6751-6437, Joerg, Lucas, Rickli, Hans, Pestana, Goncalo, Nguyen, Thanh H., Boehm, Michael, Maier, Lars S., Pinto, Fausto J., Widimsky, Petr, Felix, Stephan B., Opolski, Grzegorz, Braun-Dullaeus, Ruediger C., Rottbauer, Wolfgang, Hasenfuss, Gerd, Pieske, Burkert M., Schunkert, Heribert, Thiele, Holger, Bauersachs, Johann, Katus, Hugo A., Horowitz, John D., Di Mario, Carlo, Muenzel, Thomas, Crea, Filippo ORCID: 0000-0002-9482-411X, Bax, Jeroen J., Luescher, Thomas F., Ruschitzka, Frank, Duru, Firat, Borggrefe, Martin, Ghadri, Jelena R., Akin, Ibrahim and Templin, Christian (2021). Impact of Atrial Fibrillation on Outcome in Takotsubo Syndrome: Data From the International Takotsubo Registry. J. Am. Heart Assoc., 10 (15). HOBOKEN: WILEY. ISSN 2047-9980

Elalaoui, Siham Chafai, Fejjal, Nawfal, Li, Yun, Thiele, Holger, Altmueller, Janine, Guaoua, Soukaina, Nuernberg, Peter, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Sefiani, Abdelaziz and Ratbi, Ilham (2021). Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report. Pan Afr. Med. J., 39. KAMPALA: AFRICAN FIELD EPIDEMIOLOGY NETWORK-AFENET. ISSN 1937-8688

Fabretti, Francesca, Tschernoster, Nikolai, Erger, Florian, Hedergott, Andrea ORCID: 0000-0002-6398-3919, Buescher, Anja K., Dafinger, Claudia, Reusch, Bjoern, Koentges, Vincent K., Kohl, Stefan, Bartram, Malte P., Weber, Lutz Thorsten, Thiele, Holger, Altmueller, Janine, Schermer, Bernhard, Beck, Bodo B. and Habbig, Sandra (2021). Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling. Kidney Int. Rep., 6 (5). S. 1368 - 1379. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Fazeli, Walid, Becker, Kerstin, Herkenrath, Peter, Duechting, Christoph, Koerber, Friederike, Landgraf, Pablo, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Koy, Anne, Liebau, Max C., Simon, Thorsten, Doetsch, Joerg and Cirak, Sebahattin (2018). Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. Neuropediatrics, 49 (6). S. 379 - 385. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

Foldyna, Borek, Uhlig, Johannes, Gohmann, Robin, Lucke, Christian, Mayrhofer, Thomas ORCID: 0000-0001-6287-5185, Lehmkuhl, Lukas, Natale, Luigi, Vliegenthart, Rozemarijn, Lotz, Joachim ORCID: 0000-0002-1412-2741, Salgado, Rodrigo ORCID: 0000-0003-4060-1612, Francone, Marco ORCID: 0000-0002-7906-3420, Loewe, Christian, Nikolaou, Konstantin, Bamberg, Fabian, Maintz, David, Maurovich-Horvat, Pal, Thiele, Holger, Hoffmann, Udo and Gutberlet, Matthias ORCID: 0000-0003-4879-0438 (2022). Quality and safety of coronary computed tomography angiography at academic and non-academic sites: insights from a large European registry (ESCR MR/CT Registry). Eur. Radiol., 32 (8). S. 5246 - 5256. NEW YORK: SPRINGER. ISSN 1432-1084

Forstner, Andreas J., Fischer, Sascha B., Schenk, Lorena M., Strohmaier, Jana ORCID: 0000-0002-4364-1487, Maaser-Hecker, Anna, Reinbold, Celine S., Sivalingam, Sugirthan ORCID: 0000-0001-5239-5137, Hecker, Julian, Streit, Fabian ORCID: 0000-0003-1080-4339, Degenhardt, Franziska, Witt, Stephanie H., Schumacher, Johannes, Thiele, Holger ORCID: 0000-0002-0169-998X, Nuernberg, Peter, Guzman-Parra, Jose ORCID: 0000-0002-1463-6435, Orozco Diaz, Guillermo, Auburger, Georg, Albus, Margot, Borrmann-Hassenbach, Margitta, Jose Gonzalez, Maria, Gil Flores, Susana, Cabaleiro Fabeiro, Francisco J., del Rio Noriega, Francisco, Perez Perez, Fermin, Haro Gonzalez, Jesus, Rivas, Fabio, Mayoral, Fermin, Bauer, Michael, Pfennig, Andrea, Reif, Andreas, Herms, Stefan, Hoffmann, Per, Pirooznia, Mehdi ORCID: 0000-0002-4210-6458, Goes, Fernando S., Rietschel, Marcella, Noethen, Markus M. and Cichon, Sven (2020). Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families. Transl. Psychiatr., 10 (1). LONDON: SPRINGERNATURE. ISSN 2158-3188

Ganapathi, Mythily ORCID: 0000-0003-2834-0843, Argyriou, Loukas, Martinez-Azorin, Francisco ORCID: 0000-0001-6250-7745, Morlot, Susanne, Yigit, Gokhan, Lee, Teresa M., Auber, Bernd, von Gise, Alexander, Petrey, Donald S., Thiele, Holger ORCID: 0000-0002-0169-998X, Cyganek, Lukas ORCID: 0000-0001-9120-1382, Sabater-Molina, Maria ORCID: 0000-0003-1352-1748, Ahimaz, Priyanka, Cabezas-Herrera, Juan, Sorli-Garcia, Moises, Zibat, Arne, Siegelin, Markus D., Burfeind, Peter, Buchovecky, Christie M., Hasenfuss, Gerd, Honig, Barry, Li, Yun, Iglesias, Alejandro D. and Wollnik, Bernd (2020). Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. Hum. Genet., 139 (11). S. 1443 - 1455. NEW YORK: SPRINGER. ISSN 1432-1203

Gardella, Elena ORCID: 0000-0002-7138-6022, Becker, Felicitas, Moller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Thiele, Holger, Altmueller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nuernberg, Peter, Mang, Yuan, Moller, Louise Bakke, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels ORCID: 0000-0003-2304-0112, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sandor ORCID: 0000-0002-6035-6581 and Weber, Yvonne G. (2016). Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A Mutation. Ann. Neurol., 79 (3). S. 428 - 437. HOBOKEN: WILEY. ISSN 1531-8249

Gehlen, Jan, Giel, Ann-Sophie ORCID: 0000-0003-2973-2099, Koellges, Ricarda, Haas, Stephan L. ORCID: 0000-0003-4329-8751, Zhang, Rong, Trcka, Jiri, Sungur, Ayse O., Renziehausen, Florian, Bornholdt, Dorothea, Jung, Daphne, Hoyer, Paul D., Nordenskjold, Agneta, Tibboel, Dick, Vlot, John, Spaander, Manon C. W., Smigiel, Robert, Patkowski, Dariusz ORCID: 0000-0002-4583-5517, Roeleveld, Nel ORCID: 0000-0002-3390-4466, van Rooij, Iris Alm, de Blaauw, Ivo, Hoelscher, Alice, Pauly, Marcus, Leutner, Andreas, Fuchs, Joerg, Niethammer, Joel, Melissari, Maria-Theodora, Jenetzky, Ekkehart, Zwink, Nadine, Thiele, Holger, Hilger, Alina Christine, Hess, Timo ORCID: 0000-0003-2778-4274, Trautmann, Jessica, Marks, Matthias, Baumgarten, Martin, Blaess, Gaby, Landen, Mikael, Fundin, Bengt, Bulik, Cynthia M., Pennimpede, Tracie, Ludwig, Michael, Ludwig, Kerstin U., Mangold, Elisabeth, Heilmann-Heimbach, Stefanie, Moebus, Susanne ORCID: 0000-0002-0072-5410, Herrmann, Bernhard G., Alsabeah, Kristina, Burgos, Carmen M., Lilja, Helene E., Azodi, Sahar, Stenstrom, Pernilla, Arnbjornsson, Einar, Frybova, Barbora, Lebensztejn, Dariusz M., Debek, Wojciech ORCID: 0000-0001-6023-8510, Kolodziejczyk, Elwira, Kozera, Katarzyna, Kierkus, Jaroslaw, Kalicinski, Piotr ORCID: 0000-0003-0555-2229, Stefanowicz, Marek, Socha-Banasiak, Anna, Kolejwa, Michal, Piaseczna-Piotrowska, Anna, Czkwianianc, Elzbieta, Noethen, Markus M., Grote, Phillip, Rygl, Michal, Reinshagen, Konrad, Spychalski, Nicole, Ludwikowski, Barbara, Hubertus, Jochen ORCID: 0000-0003-3206-6170, Heydweiller, Andreas, Ure, Benno, Muensterer, Oliver J., Aubert, Ophelia, Gosemann, Jan-Hendrik, Lacher, Martin, Degenhardt, Petra ORCID: 0000-0001-7506-9457, Boemers, Thomas M., Mokrowiecka, Anna, Malecka-Panas, Ewa, Woehr, Markus, Knapp, Michael, Seitz, Guido, de Klein, Annelies, Oracz, Grzegorz, Brosens, Erwin ORCID: 0000-0001-8235-4010, Reutter, Heiko and Schumacher, Johannes (2022). First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B. Hum. Genet. Genom. Adv., 3 (2). AMSTERDAM: ELSEVIER. ISSN 2666-2477

Ghadri, Jelena R., Cammann, Victoria L., Jurisic, Stjepan, Seifert, Burkhardt ORCID: 0000-0002-5829-2478, Napp, L. Christian ORCID: 0000-0001-9945-0842, Diekmann, Johanna, Bataiosu, Dana Roxana, D'Ascenzo, Fabrizio ORCID: 0000-0002-6646-9317, Ding, Katharina J., Sarcon, Annahita, Kazemian, Elycia, Birri, Tanja, Ruschitzka, Frank, Luscher, Thomas F., Templin, Christian, Jaguszewski, Milosz ORCID: 0000-0002-2555-593X, Franke, Jennifer, Katus, Hugo A., Burgdorf, Christof, Schunkert, Heribert, Thiele, Holger, Bauersachs, Johann, Tschoepe, Carsten, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Ukena, Christian, Boehm, Michael, Erbel, Raimund, Cuneo, Alessandro, Jacobshagen, Claudius, Hasenfuss, Gerd, Karakas, Mahir, Koenig, Wolfgang, Rottbauer, Wolfgang, Said, Samir M., Braun-Dullaeus, Ruediger C., Cuculi, Florim, Banning, Adrian ORCID: 0000-0002-2842-7861, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Fijalkowski, Marcin, Rynkiewicz, Andrzej ORCID: 0000-0002-5284-9511, Opolski, Grzegorz, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan ORCID: 0000-0002-9240-6731, Galiuto, Leonarda, Crea, Filippo, Dichtl, Wolfgang ORCID: 0000-0002-0421-2110, Franz, Wolfgang M., Empen, Klaus, Felix, Stephan B., Delmas, Clement ORCID: 0000-0001-9180-9128, Lairez, Olivier, Erne, Paul, Frantz, Stefan, Prasad, Abhiram and Bax, Jeroen J. (2017). A novel clinical score (InterTAK Diagnostic Score) to differentiate takotsubo syndrome from acute coronary syndrome: results from the International Takotsubo Registry. Eur. J. Heart Fail., 19 (8). S. 1036 - 1043. HOBOKEN: WILEY. ISSN 1879-0844

Ghadri, Jelena R., Kato, Ken ORCID: 0000-0001-6993-5152, Cammann, Victoria L., Gili, Sebastiano, Jurisic, Stjepan, Di Vece, Davide, Candreva, Alessandro, Ding, Katharina J., Micek, Jozef, Szawan, Konrad A., Bacchi, Beatrice, Bianchi, Rahel, Levinson, Rena A., Wischnewsky, Manfred, Seifert, Burkhardt ORCID: 0000-0002-5829-2478, Schlossbauer, Susanne A., Citro, Rodolfo, Bossone, Eduardo, Muenzel, Thomas, Knorr, Maike, Heiner, Susanne, D'Ascenzo, Fabrizio ORCID: 0000-0002-6646-9317, Franke, Jennifer, Sarcon, Annahita, Napp, L. Christian ORCID: 0000-0001-9945-0842, Jaguszewski, Milosz ORCID: 0000-0002-2555-593X, Noutsias, Michel, Katus, Hugo A., Burgdorf, Christof, Schunkert, Heribert, Thiele, Holger, Bauersachs, Johann, Tschoepe, Carsten, Pieske, Burkert M., Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Hasenfuss, Gerd, Karakas, Mahir, Koenig, Wolfgang, Rottbauer, Wolfgang, Said, Samir M., Braun-Dullaeus, Ruediger C., Banning, Adrian ORCID: 0000-0002-2842-7861, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Opolski, Grzegorz, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan ORCID: 0000-0002-9240-6731, Galiuto, Leonarda, Crea, Filippo, Dichtl, Wolfgang ORCID: 0000-0002-0421-2110, Empen, Klaus, Felix, Stephan B., Delmas, Clement ORCID: 0000-0001-9180-9128, Lairez, Olivier, El-Battrawy, Ibrahim, Akin, Ibrahim, Borggrefe, Martin, Horowitz, John ORCID: 0000-0001-6883-0703, Kozel, Martin ORCID: 0000-0001-6355-6370, Tousek, Petr, Widimsky, Petr, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Winchester, David E., Ukena, Christian, Bax, Jeroen J., Prasad, Abhiram, Boehm, Michael, Luscher, Thomas F., Ruschitzka, Frank and Templin, Christian (2018). Long-Term Prognosis of Patients With Takotsubo Syndrome. J. Am. Coll. Cardiol., 72 (8). S. 874 - 883. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-3597

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Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Pisciotta, Livia, De Grandis, Elisa, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G. (2018). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am. J. Hum. Genet., 103 (3). S. 431 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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Harley, Margaret E., Murina, Olga ORCID: 0000-0003-1650-2892, Leitch, Andrea, Higgs, Martin R., Bicknell, Louise S., Yigit, Goekhan, Blackford, Andrew N., Zlatanou, Anastasia, Mackenzie, Karen J., Reddy, Kaalak, Halachev, Mihail, McGlasson, Sarah ORCID: 0000-0002-0077-0991, Reijns, Martin A. M., Fluteau, Adeline, Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Sabbioneda, Simone ORCID: 0000-0001-8551-5465, Elcioglu, Nursel H., Altmueller, Janine, Thiele, Holger, Greenhalgh, Lynn, Chessa, Luciana, Maghnie, Mohamad, Salim, Mahmoud, Bober, Michael B., Nuernberg, Peter, Jackson, Stephen P., Hurles, Matthew E., Wollnik, Bernd, Stewart, Grant S. and Jackson, Andrew P. (2016). TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nature Genet., 48 (1). S. 36 - 46. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Harter, Philipp, Hauke, Jan, Heitz, Florian ORCID: 0000-0002-2412-0352, Reuss, Alexander, Kommoss, Stefan, Marme, Frederik, Heimbach, Andre, Prieske, Katharina, Richters, Lisa, Burges, Alexander, Neidhardt, Guido, de Gregorio, Nikolaus, El-Balat, Ahmed, Hilpert, Felix, Meier, Werner, Kimmig, Rainer, Kast, Karin, Sehouli, Jalid, Baumann, Klaus, Jackisch, Christian, Park-Simon, Tjoung-Won, Hanker, Lars, Kroeber, Sandra, Pfisterer, Jacobus, Gevensleben, Heidrun, Schnelzer, Andreas, Dietrich, Dimo, Neunhoeffer, Tanja, Krockenberger, Mathias, Brucker, Sara Y., Nuernberg, Peter, Thiele, Holger, Altmueller, Janine, Lamla, Josefin, Elser, Gabriele, du Bois, Andreas, Hahnen, Eric and Schmutzler, Rita (2017). Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1). PLoS One, 12 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Hashmi, Jamil A., Fadhli, Fatima, Almatrafi, Ahmed, Afzal, Sibtain, Ramzan, Khushnooda, Thiele, Holger ORCID: 0000-0002-0169-998X, Nuernberg, Peter and Basit, Sulman ORCID: 0000-0003-4294-6825 (2020). Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family. Brain Dev., 42 (8). S. 587 - 594. AMSTERDAM: ELSEVIER. ISSN 1872-7131

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Hauke, Jan, Heimbach, Andre, Richters, Lisa Katharina, Kroeber, Sandra, Altmuller, Janine, Thiele, Holger, Nuernberg, Peter, Wappenschmidt, Barbara, Neidhardt, Guido, Rhiem, Kerstin, Schmutzler, Rita K. and Hahnen, Eric (2016). Next-generation sequencing in BRCA1/2-negative breast and ovarian cancer families. J. Clin. Oncol., 34 (15). ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

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Herling, Carmen Diana, Klaumuenzer, Marion, Rocha, Cristiano Krings, Altmueller, Janine, Thiele, Holger, Bahlo, Jasmin, Kluth, Sandra, Crispatzu, Giuliano, Herling, Marco, Schiller, Joanna, Engelke, Anja, Tausch, Eugen, Doehner, Hartmut, Fischer, Kirsten, Goede, Valentin, Nuernberg, Peter, Reinhardt, Hans Christian, Stilgenbauer, Stephan, Hallek, Michael and Kreuzer, Karl-Anton (2016). Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy. Blood, 128 (3). S. 395 - 405. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

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Horpaopan, Sukanya, Kirfel, Jutta, Peters, Sophia, Kloth, Michael, Hueneburg, Robert, Altmueller, Janine, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Odenthal, Margarete, Kristiansen, Glen, Strassburg, Christian, Nattermann, Jacob, Hoffmann, Per, Nuernberg, Peter, Buettner, Reinhard, Thiele, Holger, Kahl, Philip, Spier, Isabel and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2017). Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS). Hered. Cancer Clin. Pract., 15. LONDON: BIOMED CENTRAL LTD. ISSN 1897-4287

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Huebers, Annemarie, Just, Walter, Rosenbohm, Angela, Mueller, Kathrin, Marroquin, Nicolai, Goebel, Ingrid, Hoegel, Josef, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Weishaupt, Jochen H., Kubisch, Christian ORCID: 0000-0003-4220-0978, Ludolph, Albert C. and Volk, Alexander E. (2015). De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. Neurobiol. Aging, 36 (11). NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-1497

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Hussain, Muhammad S., Baig, Shahid M., Neumann, Sascha, Peche, Vivek S., Szczepanski, Sandra, Nuernberg, Gudrun, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Jameel, Muhammad, Khan, Tahir N., Fatima, Ambrin, Malik, Naveed A., Ahmad, Ilyas, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Thiele, Holger, Hoehne, Wolfgang, Yigit, Goekhan, Wollnik, Bernd, Neubauer, Bernd A., Nuernberg, Peter and Noegel, Angelika A. (2013). CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum. Mol. Genet., 22 (25). S. 5199 - 5215. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Battaglia, Agatino ORCID: 0000-0002-7128-7606, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi ORCID: 0000-0001-8983-2249, Altmueller, Janine, Thiele, Holger, Nuernberg, Gudrun, Moosa, Shahida ORCID: 0000-0002-4463-3067, Yigit, Goekhan, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda ORCID: 0000-0001-9317-8155, Brancati, Francesco, Dobbie, Angus, Smigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G. and Nuernberg, Peter (2014). Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome. Am. J. Hum. Genet., 95 (5). S. 622 - 633. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Iliadis, Christos ORCID: 0000-0001-7655-8500, Kalbacher, Daniel, Lurz, Philipp, Petrescu, Aniela Monica, Orban, Mathias, Puscas, Tania, Lupi, Laura, Stazzoni, Laura, Pires-Morais, Gustavo, Koell, Benedikt, Besler, Christian, Ruf, Tobias Friedrich, Stolz, Lukas, Tence, Noemie, Adamo, Marianna, Giannini, Cristina, Guerreiro, Claudio, Hellmich, Martin, Baldus, Stephan, Schofer, Niklas, Thiele, Holger, von Bardeleben, Ralph Stephan, Hausleiter, Joerg, Karam, Nicole ORCID: 0000-0002-3861-6914, Metra, Marco, Petronio, Anna Sonia, Melica, Bruno and Pfister, Roman (2022). Left atrial volume index and outcome after transcatheter edge-to-edge valve repair for secondary mitral regurgitation. Eur. J. Heart Fail., 24 (7). S. 1282 - 1293. HOBOKEN: WILEY. ISSN 1879-0844

Imori, Yoichi, Kato, Ken, Cammann, Victoria L., Szawan, Konrad A., Wischnewsky, Manfred, Dreiding, Sara, Wuerdinger, Michael, Schoenberger, Maximilian, Petkova, Vanya, Niederseer, David, Levinson, Rena A., Di Vece, Davide, Gili, Sebastiano ORCID: 0000-0002-0542-0448, Seifert, Burkhardt, Wakita, Masaki, Suzuki, Noriko, Citro, Rodolfo ORCID: 0000-0002-7796-6298, Bossone, Eduardo, Heiner, Susanne, Knorr, Maike, Jansen, Thomas, Muenzel, Thomas, D'Ascenzo, Fabrizio, Franke, Jennifer, Sorici-Barb, Ioana, Katus, Hugo A., Sarcon, Annahita, Shinbane, Jerold, Napp, L. Christian ORCID: 0000-0001-9945-0842, Bauersachs, Johann, Jaguszewski, Milosz, Shiomura, Reiko, Nakamura, Shunichi, Takano, Hitoshi, Noutsias, Michel, Burgdorf, Christof, Ishibashi, Iwao, Himi, Toshiharu, Koenig, Wolfgang ORCID: 0000-0002-2064-9603, Schunkert, Heribert, Thiele, Holger, Kherad, Behrouz, Tschope, Carsten ORCID: 0000-0001-5243-8985, Pieske, Burkert M., Rajan, Lawrence, Michels, Guido, Pfister, Roman, Mizuno, Shingo, Cuneo, Alessandro ORCID: 0000-0003-1443-2341, Jacobshagen, Claudius, Hasenfuss, Gerd, Karakas, Mahir, Mochizuki, Hiroki, Pott, Alexander, Rottbauer, Wolfgang, Said, Samir M., Braun-Dullaeus, Ruediger C., Banning, Adrian ORCID: 0000-0002-2842-7861, Isogai, Toshiaki, Kimura, Akihisa, Cuculi, Florim, Kobza, Richard ORCID: 0000-0003-3988-7262, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Tomita, Yasuhiro, Budnik, Monika, Opolski, Grzegorz ORCID: 0000-0003-4744-2554, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan ORCID: 0000-0002-9240-6731, Galiuto, Leonarda, Crea, Filippo ORCID: 0000-0002-9482-411X, Dichtl, Wolfgang, Murakami, Tsutomu, Ikari, Yuji, Empen, Klaus, Beug, Daniel, Felix, Stephan B., Delmas, Clement, Lairez, Olivier, Yamaguchi, Tetsuo, El-Battrawy, Ibrahim ORCID: 0000-0002-0139-1045, Akin, Ibrahim, Borggrefe, Martin, Horowitz, John D., Kozel, Martin, Tousek, Petr, Widimsky, Petr ORCID: 0000-0001-5686-7752, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Neuhaus, Michael, Meyer, Philippe, Arroja, Jose David, Chan, Christina, Bridgman, Paul, Galuszka, Jan, Poglajen, Gregor, Carrilho-Ferreira, Pedro, Pinto, Fausto J., Hauck, Christian, Maier, Lars S., Liu, Kan, Di Mario, Carlo, Paolini, Carla, Bilato, Claudio ORCID: 0000-0003-3474-0579, Bianco, Matteo ORCID: 0000-0002-6751-6437, Joerg, Lucas, Rickli, Hans, Winchester, David E., Ukena, Christian ORCID: 0000-0002-9810-4662, Boehm, Michael, Bax, Jeroen J., Prasad, Abhiram, Rihal, Charanjit S., Saito, Shigeru, Kobayashi, Yoshio, Luscher, Thomas F., Ruschitzka, Frank, Shimizu, Wataru ORCID: 0000-0001-9941-8973, Ghadri, Jelena R. and Templin, Christian (2022). Ethnic comparison in takotsubo syndrome: novel insights from the International Takotsubo Registry. Clin. Res. Cardiol., 111 (2). S. 186 - 197. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1861-0692

Jabbari, Kamel, Bobbili, Dheeraj R., Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Wolking, Stefan ORCID: 0000-0002-1460-6623, Sinha, Vishal, Motameny, Susanne, Thiele, Holger, Kawalia, Amit, Altmueller, Janine, Toliat, Mohammad Reza, Kraaij, Robert, van Rooij, Jeroen, Uitterlinden, Andre G., Ikram, M. Arfan, Zara, Federico, Lehesjoki, Anna-Elina, Krause, Roland, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Sander, Thomas, Neubauer, Bernd A., May, Patrick ORCID: 0000-0001-8698-3770, Lerche, Holger and Nuernberg, Peter (2018). Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS One, 13 (8). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Jurisic, Stjepan, Gili, Sebastiano, Cammann, Victoria L., Kato, Ken ORCID: 0000-0001-6993-5152, Szawan, Konrad A., D'Ascenzo, Fabrizio ORCID: 0000-0002-6646-9317, Jaguszewski, Milosz, Bossone, Eduardo, Citro, Rodolfo, Sarcon, Annahita, Napp, L. Christian ORCID: 0000-0001-9945-0842, Franke, Jennifer, Noutsias, Michel, Knorr, Maike, Heiner, Susanne, Burgdorf, Christof, Koenig, Wolfgang, Pott, Alexander, Kherad, Behrouz, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Karakas, Mahir, Meyer, Philippe, Arroja, Jose David, Banning, Adrian ORCID: 0000-0002-2842-7861, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Dworakowski, Rafal, Kaiser, Christoph, Osswald, Stefan ORCID: 0000-0002-9240-6731, Galiuto, Leonarda, Dichtl, Wolfgang, Chan, Christina, Bridgman, Paul, Beug, Daniel, Delmas, Clement, Lairez, Olivier, Kozel, Martin, Tousek, Petr, Winchester, David E., Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, El-Battrawy, Ibrahim, Akin, Ibrahim, Galuszka, Jan, Ukena, Christian, Poglajen, Gregor ORCID: 0000-0003-1777-8807, Paolini, Carla, Bilato, Claudio ORCID: 0000-0003-3474-0579, Carrilho-Ferreira, Pedro, Pinto, Fausto J., Opolski, Grzegorz, MacCarthy, Philip, Kobayashi, Yoshio, Prasad, Abhiram, Rihal, Charanjit S., Widimsky, Petr, Horowitz, John D., Di Mario, Carlo, Crea, Filippo, Tschope, Carsten, Pieske, Burkert M., Hasenfuss, Gerd, Rottbauer, Wolfgang, Braun-Dullaeus, Ruediger C., Felix, Stephan B., Borggrefe, Martin, Thiele, Holger, Bauersachs, Johann, Katus, Hugo A., Schunkert, Heribert, Muenzel, Thomas, Bohm, Michael, Bax, Jeroen J., Luscher, Thomas F., Ruschitzka, Frank, Ghadri, Jelena R. and Templin, Christian (2019). Clinical Predictors and Prognostic Impact of Recovery of Wall Motion Abnormalities in Takotsubo Syndrome: Results From the International Takotsubo Registry. J. Am. Heart Assoc., 8 (21). HOBOKEN: WILEY. ISSN 2047-9980

Jurkute, Neringa ORCID: 0000-0002-3092-7451, Leu, Costin, Pogoda, Hans-Martin, Arno, Gavin, Robson, Anthony G., Nuernberg, Gudrun, Altmueller, Janine, Thiele, Holger, Motameny, Susanne, Toliat, Mohammad Reza, Powell, Kate, Hoehne, Wolfgang, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Hammerschmidt, Matthias, Nuernberg, Peter, Yu-Wai-Man, Patrick and Votruba, Marcela ORCID: 0000-0002-7680-9135 (2019). SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann. Neurol., 86 (3). S. 368 - 384. HOBOKEN: WILEY. ISSN 1531-8249

Karakaya, Mert, Paketci, Cem ORCID: 0000-0003-3587-6830, Altmueller, Janine, Thiele, Holger, Hoelker, Irmgard, Yis, Uluc and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. Am. J. Med. Genet. A, 179 (8). S. 1580 - 1585. HOBOKEN: WILEY. ISSN 1552-4833

Karakaya, Mert ORCID: 0000-0001-5395-8894, Storbeck, Markus, Strathmann, Eike A., Delle Vedove, Andrea, Hoelker, Irmgard, Altmueller, Janine, Naghiyeva, Leyla, Schmitz-Steinkrueger, Lea, Vezyroglou, Katharina, Motameny, Susanne, Alawbathani, Salem, Thiele, Holger, Polat, Ayse Ipek, Okur, Derya, Boostani, Reza, Karimiani, Ehsan Ghayoor, Wunderlich, Gilbert, Ardicli, Didem, Topaloglu, Haluk, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Schrank, Bertold, Maroofian, Reza, Magnusson, Olafur, Yis, Uluc, Nuernberg, Peter, Heller, Raoul and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum. Mutat., 39 (9). S. 1284 - 1299. HOBOKEN: WILEY. ISSN 1098-1004

Karam, Nicole ORCID: 0000-0002-3861-6914, Orban, Mathias, Kalbacher, Daniel, Butter, Christian, Praz, Fabien ORCID: 0000-0001-5416-165X, Lubos, Edith, Bannehr, Marwin, Kassar, Mohammad, Petrescu, Aniela, Iliadis, Christos, Unterhuber, Matthias ORCID: 0000-0002-8175-276X, Asselin, Anouk, Thiele, Holger, Pfister, Roman, Windecker, Stephan, Lurz, Philipp, von Bardeleben, Stephan and Hausleiter, Joerg (2021). Impact of effective regurgitant orifice area on outcome of secondary mitral regurgitation transcatheter repair. Clin. Res. Cardiol., 110 (5). S. 732 - 740. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1861-0692

Karam, Nicole ORCID: 0000-0002-3861-6914, Stolz, Lukas, Orban, Mathias, Deseive, Simon, Praz, Fabien ORCID: 0000-0001-5416-165X, Kalbacher, Daniel, Westermann, Dirk, Braun, Daniel, Nabauer, Michael, Neuss, Michael, Butter, Christian, Kassar, Mohammad, Petrescu, Aniela, Pfister, Roman, Iliadis, Christos, Unterhuber, Matthias ORCID: 0000-0002-8175-276X, Park, Sang-Don, Thiele, Holger, Baldus, Stephan, von Bardeleben, Ralph Stephan ORCID: 0000-0002-1356-0037, Blankenberg, Stefan, Massberg, Steffen, Windecker, Stephan, Lurz, Philipp and Hausleiter, Joerg (2021). Impact of Right Ventricular Dysfunction on Outcomes After Transcatheter Edge-to-Edge Repair for Secondary Mitral Regurgitation. JACC-Cardiovasc. Imag., 14 (4). S. 758 - 769. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1876-7591

Karsak, Meliha, Glebov, Konstantin, Scheffold, Marina, Bajaj, Thomas, Kawalia, Amit, Karaca, Ilker, Rading, Sebastian, Kornhuber, Johannes, Peters, Oliver, Diez-Fairen, Monica ORCID: 0000-0003-1882-0309, Froelich, Lutz, Huell, Michael, Wiltfang, Jens ORCID: 0000-0003-1492-5330, Scherer, Martin, Riedel-Heller, Steffi, Schneider, Anja, Heneka, Michael T., Fliessbach, Klaus, Sharaf, Ahmed, Thiele, Holger, Lennarz, Martina, Jessen, Frank, Maier, Wolfgang, Kubisch, Christian, Ignatova, Zoya, Nuernberg, Peter, Pastor, Pau ORCID: 0000-0002-7493-8777, Walter, Jochen ORCID: 0000-0002-4678-2912 and Ramirez, Alfredo ORCID: 0000-0003-4991-763X (2020). A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2. Hum. Mutat., 41 (1). S. 169 - 182. HOBOKEN: WILEY. ISSN 1098-1004

Kause, Franziska, Reutter, Heiko, Marsch, Florian, Thiele, Holger, Altmueller, Janine, Ludwig, Michael and Zhang, Rong (2018). Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio-otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? Mol. Med. Rep., 17 (2). S. 3200 - 3206. ATHENS: SPANDIDOS PUBL LTD. ISSN 1791-3004

Kause, Franziska ORCID: 0000-0002-0074-8962, Zhang, Rong, Ludwig, Michael, Schmiedeke, Eberhard, Rissmann, Anke, Thiele, Holger, Altmueller, Janine, Herms, Stefan, Hilger, Mina C., Hildebrandt, Friedhelm and Reutter, Heiko (2019). HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res., 111 (10). S. 591 - 598. HOBOKEN: WILEY. ISSN 2472-1727

Kaygusuz, Emrah, Khayyat, Arwa Ishaq A., Abdullah, Uzma, Budde, Birgit Susanne, Asif, Maria, Ahmed, Ilyas, Makhdoom, Ehtisham Ul Haq, Sur-Erdem, Ilknur, Baig, Jamshaid Mahmood, Khan, Muhammad Mohsin Ali, Toliat, Mohammad Reza, Becker, Christian, Anwar, Haseeb, Iqbal, Maria, Fischer, Sarah, Jameel, Muhammad, Sher, Muhammad, Tariq, Muhammad, Malik, Naveed Altaf, Noegel, Angelika A., Hassan, Muhammad Jawad, Thiele, Holger, Tinschert, Sigrid, Eichinger, Ludwig, Honing, Stefan, Baig, Shahid Mahmood, Nurnberg, Peter and Hussain, Muhammad Sajid (2022). A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome (vol 100, pg 486, 2021). Clin. Genet., 101 (2). S. 272 - 273. HOBOKEN: WILEY. ISSN 1399-0004

Kaygusuz, Emrah, Khayyat, Arwa Ishaq A., Abdullah, Uzma, Budde, Birgit Susanne, Asif, Maria, Ahmed, Ilyas, Makhdoom, Ehtisham Ul Haq, Sur-Erdem, Ilknur, Baig, Jamshaid Mahmood, Khan, Muhammad Mohsin Ali, Toliat, Mohammad Reza, Becker, Christian, Anwar, Haseeb, Iqbal, Maria, Fischer, Sarah, Jameel, Muhammad, Sher, Muhammad, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Malik, Naveed Altaf ORCID: 0000-0002-7392-9449, Noegel, Angelika A., Hassan, Muhammad Jawad, Thiele, Holger, Tinschert, Sigrid, Eichinger, Ludwig, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid (2021). A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin. Genet., 100 (4). S. 486 - 489. HOBOKEN: WILEY. ISSN 1399-0004

Keller, Natalie, Mendoza-Ferreira, Natalia, Maroofian, Reza, Chelban, Viorica, Khalil, Youssef ORCID: 0000-0001-9025-3017, Mills, Philippa B., Boostani, Reza, Torbati, Paria Najarzadeh, Karimiani, Ehsan Ghayoor, Thiele, Holger ORCID: 0000-0002-0169-998X, Houlden, Henry, Wirth, Brunhilde and Karakaya, Mert (2020). Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism. Neuromusc. Disord., 30 (7). S. 583 - 590. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Keller, Natalie, Paketci, Cem, Altmueller, Janine, Fuhrmann, Nico, Wunderlich, Gilbert, Schrank, Bertold, Unver, Olcay, Yilmaz, Sanem, Boostani, Reza, Karimiani, Ehsan Ghayoor, Motameny, Susanne, Thiele, Holger, Nuernberg, Peter, Maroofian, Reza, Yis, Uluc, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Karakaya, Mert (2021). Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Hum. Mutat., 42 (4). S. 460 - 473. HOBOKEN: WILEY. ISSN 1098-1004

Keller, Natalie, Paketci, Cem, Edem, Pinar, Thiele, Holger, Yis, Uluc, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Karakaya, Mert (2021). De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy. Eur. J. Med. Genet., 64 (2). AMSTERDAM: ELSEVIER. ISSN 1878-0849

Khan, Muzammil A., Rupp, Verena M., Orpinell, Meritxell, Hussain, Muhammad S., Altmueller, Janine, Steinmetz, Michel O., Enzinger, Christian, Thiele, Holger, Hoehne, Wolfgang, Nuernberg, Gudrun, Baig, Shahid M., Ansar, Muhammad ORCID: 0000-0001-5891-7063, Nuernberg, Peter, Vincent, John B., Speicher, Michael R., Goenczy, Pierre and Windpassinger, Christian (2014). A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Hum. Mol. Genet., 23 (22). S. 5940 - 5950. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Khuller, Katharina, Yigit, Goekhan, Grijalva, Carolina Martinez, Altmueller, Janine, Thiele, Holger, Nurnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Koeninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd ORCID: 0000-0003-2589-0364 and Kuechler, Alma (2021). MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease. Eur. J. Med. Genet., 64 (10). AMSTERDAM: ELSEVIER. ISSN 1878-0849

Kim, Won-Keun ORCID: 0000-0002-0799-7478, Thiele, Holger, Linke, Axel, Kuntze, Thomas, Fichtlscherer, Stephan, Webb, John, Chu, Michael W. A., Adam, Matti, Schymik, Gerhard, Geisler, Tobias, Kharbanda, Rajesh, Christen, Thomas and Allocco, Dominic (2022). Transcatheter Aortic Valve Implantation with ACURATE neo: Results from the PROGRESS PVL Registry. J. Interv. Cardiol., 2022. LONDON: WILEY-HINDAWI. ISSN 1540-8183

Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariette J. V., Van der Ven, Amelie, Thiele, Holger, Altmueller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K. and Lessel, Davor ORCID: 0000-0003-4496-244X (2021). ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants. Neurogenetics, 22 (4). S. 263 - 270. NEW YORK: SPRINGER. ISSN 1364-6753

Koehler, Katrin ORCID: 0000-0002-9407-1410, Malik, Meera, Mahmood, Saqib, Giesselmann, Sebastian, Beetz, Christian ORCID: 0000-0001-7061-2895, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nuernberg, Gudrun, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Braemswig, Jurgen, Muehlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame ORCID: 0000-0002-4977-9719, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile ORCID: 0000-0002-6199-7647, Kurth, Ingo ORCID: 0000-0002-5642-8378, Huebner, Angela and Huebner, Christian A. (2013). Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction. Am. J. Hum. Genet., 93 (4). S. 727 - 735. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Koell, Benedikt, Orban, Mathias, Weimann, Jessica, Kassar, Mohammad, Karam, Nicole, Neuss, Michael, Petrescu, Aniela, Iliadis, Christos, Unterhuber, Matthias, Adamo, Marianna, Giannini, Cristina, Melica, Bruno, Ludwig, Sebastian, Massberg, Steffen, Praz, Fabien ORCID: 0000-0001-5416-165X, Pfister, Roman, Thiele, Holger, von Bardeleben, Ralph Stephan ORCID: 0000-0002-1356-0037, Baldus, Stephan, Butter, Christian, Lurz, Philipp, Windecker, Stephan, Metra, Marco, Petronio, Anna Sonia, Hausleiter, Joerg, Lubos, Edith and Kalbacher, Daniel (2021). Outcomes Stratified by Adapted Inclusion Criteria After Mitral Edge-to-Edge Repair. J. Am. Coll. Cardiol., 78 (24). S. 2408 - 2422. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-3597

Koko, Mahmoud ORCID: 0000-0001-9512-0184, Yahia, Ashraf, Elsayed, Liena E., Hamed, Ahlam A., Mohammed, Inaam N., Elseed, Maha A., Hamad, Muddathir H. A., Babai, Arwa M., Siddig, Rayan A., Abd Allah, Amal S. I., Mohamed, Mayada, EL-Amin, Melka, Esteves, Typhaine, Altmuller, Janine, Toliat, Mohammad Reza, Thiele, Holger, Nurnberg, Peter, Salih, Mustafa A., Ahmed, Ammar E., Lerche, Holger and Stevanin, Giovanni ORCID: 0000-0001-9368-8657 (2021). An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. Ann. Hum. Genet., 85 (5). S. 186 - 196. HOBOKEN: WILEY. ISSN 1469-1809

Kolvenbach, Caroline M., Dworschak, Gabriel C., Frese, Sandra, Japp, Anna S., Schuster, Peggy, Wenzlitschke, Nina, Yilmaz, Oeznur, Lopes, Filipa M., Pryalukhin, Alexey, Schierbaum, Luca, van der Zanden, Loes F. M., Kause, Franziska, Schneider, Ronen, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Pawlaczyk, Krzysztof, Newman, William G., Beaman, Glenda M., Stuart, Helen M., Cervellione, Raimondo M., Feitz, Wouter F. J., van Rooij, Iris A. L. M., Schreuder, Michiel F., Steffens, Martijn, Weber, Stefanie, Merz, Waltraut M., Feldkoetter, Markus, Hoppe, Bernd, Thiele, Holger, Altmueller, Janine, Berg, Christoph, Kristiansen, Glen, Ludwig, Michael, Reutter, Heiko, Woolf, Adrian S., Hildebrandt, Friedhelm, Grote, Phillip, Zaniew, Marcin, Odermatt, Benjamin and Hilger, Alina C. (2019). Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am. J. Hum. Genet., 104 (5). S. 994 - 1007. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Kolvenbach, Caroline M., Felger, Tim, Schierbaum, Luca, Thiffault, Isabelle, Pastinen, Tomi, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Zaniew, Marcin, Adamczyk, Piotr ORCID: 0000-0001-9557-221X, Bayat, Allan ORCID: 0000-0003-4986-8006, Yilmaz, Oeznur, Lindenberg, Tobias T., Thiele, Holger, Hildebrandt, Friedhelm, Hinderhofer, Katrin, Moog, Ute, Hilger, Alina C., Sullivan, Bonnie, Bartik, Lauren, Gnys, Piotr, Grote, Phillip, Odermatt, Benjamin, Reutter, Heiko M. and Dworschak, Gabriel C. . X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. J. Med. Genet.. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

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Michels, Guido, Bauersachs, Johann, Boettiger, Bernd W., Busch, Hans-Joerg, Dirks, Burkhard, Frey, Norbert ORCID: 0000-0001-7611-378X, Lott, Carsten, Rott, Nadine, Schoels, Wolfgang, Schulze, P. Christian and Thiele, Holger (2022). Guidelines of the European Resuscitation Council (ERC) on cardiopulmonary resuscitation 2021: update and comments. Anaesthesist, 71 (2). S. 129 - 141. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-055X

Michels, Guido, Bauersachs, Johann, Boettiger, Bernd W., Busch, Hans-Joerg, Dirks, Burkhard, Frey, Norbert ORCID: 0000-0001-7611-378X, Lott, Carsten, Rott, Nadine, Schoels, Wolfgang, Schulze, P. Christian and Thiele, Holger (2022). Guidelines of the European Resuscitation Council (ERC) on cardiopulmonary resuscitation 2021: update and comments. Kardiologe, 16 (1). S. 22 - 34. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1864-9726

Michels, Guido, Wengenmayer, Tobias, Hagl, Christian, Dohmen, Christian, Boettiger, Bernd W., Bauersachs, Johann, Markewitz, Andreas, Bauer, Adrian ORCID: 0000-0003-2598-7422, Graesner, Jan-Thorsten, Pfister, Roman, Ghanem, Alexander, Busch, Hans-Joerg, Kreimeier, Uwe, Beckmann, Andreas, Fischer, Matthias, Kill, Clemens, Janssens, Uwe, Kluge, Stefan, Born, Frank, Hoffmeister, Hans Martin, Preusch, Michael, Boeken, Udo, Riessen, Reimer and Thiele, Holger (2019). Recommendations for extracorporeal cardiopulmonary resuscitation (eCPR): consensus statement of DGIIN, DGK, DGTHG, DGfK, DGNI, DGAI, DIVI and GRC. Clin. Res. Cardiol., 108 (5). S. 455 - 465. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1861-0692

Minnerop, Martina, Kurzwelly, Delia, Wagner, Holger, Soehn, Anne S., Reichbauer, Jennifer, Tao, Feifei, Rattay, Tim W. ORCID: 0000-0002-5456-7761, Peitz, Michael, Rehbach, Kristina, Giorgetti, Alejandro, Pyle, Angela, Thiele, Holger, Altmueller, Janine, Timmann, Dagmar, Karaca, Ilker, Lennarz, Martina, Baets, Jonathan, Hengel, Holger, Synofzik, Matthis, Atasu, Burcu, Feely, Shawna, Kennerson, Marina, Stendel, Claudia, Lindig, Tobias, Gonzalez, Michael A., Stirnberg, Ruediger, Sturm, Marc ORCID: 0000-0002-6552-8362, Roeske, Sandra, Jung, Johanna, Bauer, Peter, Lohmann, Ebba, Herms, Stefan ORCID: 0000-0002-2786-8200, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Nicholson, Garth, Mahanjah, Muhammad, Sharkia, Rajech, Carloni, Paolo, Bruestle, Oliver, Klopstock, Thomas, Mathews, Katherine D., Shy, Michael E., de Jonghe, Peter, Chinnery, Patrick F., Horvath, Rita ORCID: 0000-0002-9841-170X, Kohlhase, Juergen, Schmitt, Ina, Wolf, Michael, Greschus, Susanne, Amunts, Katrin, Maier, Wolfgang, Schoels, Ludger, Nuernberg, Peter, Zuchner, Stephan, Klockgether, Thomas, Ramirez, Alfredo ORCID: 0000-0003-4991-763X and Schuele, Rebecca (2017). Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain, 140. S. 1561 - 1579. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Miura, Mizuki, Alessandrini, Hannes, Alkhodair, Abdullah, Attinger-Toller, Adrian, Biasco, Luigi, Lurz, Philipp, Braun, Daniel, Brochet, Eric, Connelly, Kim A., de Bruijn, Sabine, Denti, Paolo, Deuschl, Florian, Estevez-Loureiro, Rodrigo, Fam, Neil, Frerker, Christian, Gavazzoni, Mara, Hausleiter, Jorg, Himbert, Dominique, Ho, Edwin, Juliard, Jean-Michel, Kaple, Ryan, Besler, Christian, Kodali, Susheel, Kreidel, Felix, Kuck, Karl-Heinz, Latib, Azeem, Lauten, Alexander, Monivas, Vanessa, Mehr, Michael, Muntane-Carol, Guillem, Nazif, Tamin, Nickenig, Georg, Pedrazzini, Giovanni, Philippon, Francois, Pozzoli, Alberto, Praz, Fabien, Puri, Rishi, Rodes-Cabau, Josep, Schafer, Ulrich, Schofer, Joachim, Sievert, Horst, Tang, Gilbert H. L., Thiele, Holger ORCID: 0000-0002-0169-998X, Rommel, Karl-Philipp, Vahanian, Alec, Von Bardeleben, Ralph Stephan, Webb, John G., Weber, Marcel ORCID: 0000-0003-4100-9522, Windecker, Stephan, Winkel, Mirjam, Zuber, Michel, Leon, Martin B., Maisano, Francesco ORCID: 0000-0002-3691-1709, Hahn, Rebecca T. and Taramasso, Maurizio (2020). Impact of Massive or Torrential Tricuspid Regurgitation in Patients Undergoing Transcatheter Tricuspid Valve Intervention. JACC-Cardiovasc. Interv., 13 (17). S. 1999 - 2010. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1876-7605

Mohseni, Marzieh, Babanejad, Mojgan ORCID: 0000-0003-2532-4303, Booth, Kevin T., Jamali, Payman, Jalalvand, Khadijeh, Davarnia, Behzad, Ardalani, Fariba, Khoshaeen, Atefeh, Arzhangi, Sanaz, Ghodratpour, Fatemeh, Beheshtian, Maryam, Jahanshad, Faezeh, Otukesh, Hasan, Bahrami, Fatemeh, Seifati, Seyed Morteza, Bazazzadegan, Niloofar ORCID: 0000-0002-5455-272X, Habibi, Farkhonde, Behravan, Hanieh, Mirzaei, Sepide, Keshavarzi, Fatemeh, Nikzat, Nooshin, Mehrjoo, Zohreh, Thiele, Holger, Nothnagel, Michael, Azaiez, Hela ORCID: 0000-0002-2863-6970, Smith, Richard J., Kahrizi, Kimia and Najmabadi, Hossein (2021). Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran. Clin. Genet., 100 (1). S. 59 - 79. HOBOKEN: WILEY. ISSN 1399-0004

Moosa, Shahida ORCID: 0000-0002-4463-3067, Fano, Virginia, Obregon, Maria Gabriela, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Nishimura, Gen and Wollnik, Bernd (2016). A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival. Am. J. Med. Genet. A, 170 (9). S. 2436 - 2440. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

Moosa, Shahida ORCID: 0000-0002-4463-3067, Haagerup, Annette, Gregersen, Pernille Axel, Petersen, Karin Kastberg, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Cho, Tae-Joon ORCID: 0000-0001-8514-377X, Kim, Ok-Hwa, Nishimura, Gen, Wollnik, Bernd and Vogel, Ida ORCID: 0000-0002-1125-0393 (2017). Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. Am. J. Med. Genet. A, 173 (4). S. 1102 - 1109. HOBOKEN: WILEY. ISSN 1552-4833

Moosa, Shahida ORCID: 0000-0002-4463-3067, Obregon, Maria Gabriela, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Fano, Virginia and Wollnik, Bernd (2016). Novel IFT122 Mutations in Three Argentinian Patients with Cranioectodermal Dysplasia: Expanding the Mutational Spectrum. Am. J. Med. Genet. A, 170 (5). S. 1295 - 1302. HOBOKEN: WILEY. ISSN 1552-4833

Napp, L. Christian ORCID: 0000-0001-9945-0842, Cammann, Victoria L., Jaguszewski, Milosz, Szawan, Konrad A., Wischnewsky, Manfred ORCID: 0000-0003-1365-6351, Gili, Sebastiano, Knorr, Maike, Heiner, Susanne, Citro, Rodolfo, Bossone, Eduardo, D'Ascenzo, Fabrizio, Neuhaus, Michael, Franke, Jennifer, Sorici-Barb, Ioana, Noutsias, Michel, Burgdorf, Christof, Koenig, Wolfgang, Kherad, Behrouz, Sarcon, Annahita, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Karakas, Mahir, Pott, Alexander, Meyer, Philippe, Arroja, Jose D., Banning, Adrian, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Hauck, Christian, Paolini, Carla, Bilato, Claudio ORCID: 0000-0003-3474-0579, Imori, Yoichi, Kato, Ken, Kobayashi, Yoshio, Opolski, Grzegorz, Budnik, Monika, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan, Galiuto, Leonarda, Dichtl, Wolfgang, Chan, Christina, Bridgman, Paul, Beug, Daniel, Delmas, Clement, Lairez, Olivier, El-Battrawy, Ibrahim, Akin, Ibrahim, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Horowitz, John D., Polednikova, Karolina, Tousek, Petr, Widimsky, Petr, Winchester, David E., Galuszka, Jan, Ukena, Christian, Poglajen, Gregor, Carrilho-Ferreira, Pedro, Di Mario, Carlo, Prasad, Abhiram, Rihal, Charanjit S., Schulze, P. Christian, Bianco, Matteo, Crea, Filippo, Borggrefe, Martin, Maier, Lars S., Pinto, Fausto J., Braun-Dullaeus, Ruediger C., Rottbauer, Wolfgang, Katus, Hugo A., Hasenfuss, Gerd, Tschoepe, Carsten, Pieske, Burkert M., Thiele, Holger ORCID: 0000-0002-0169-998X, Schunkert, Heribert, Boehm, Michael, Felix, Stephan B., Muenzel, Thomas, Bax, Jeroen J., Bauersachs, Johann, Braunwald, Eugene, Luescher, Thomas F., Ruschitzka, Frank, Ghadri, Jelena R. and Templin, Christian (2020). Coexistence and outcome of coronary artery disease in Takotsubo syndrome. Eur. Heart J., 41 (34). S. 3255 - 3269. OXFORD: OXFORD UNIV PRESS. ISSN 1522-9645

Neidhardt, Guido, Becker, Alexandra, Hauke, Jan, Horvath, Judit, Markov, Nadja Bogdanova, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Hellebrand, Heide, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Meindl, Alfons, Rhiem, Kerstin, Bluemcke, Britta, Wappenschmidt, Barbara, Schmutzler, Rita K. and Hahnen, Eric (2017). The RAD51C exonic splice-site mutations c.404G > C and c.404G > T are associated with familial breast and ovarian cancer. Eur. J. Cancer Prev., 26 (2). S. 165 - 170. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1473-5709

Neidhardt, Guido, Hauke, Jan, Ramser, Juliane, Gross, Eva, Gehrig, Andrea, Mueller, Clemens R., Kahlert, Anne-Karin, Hackmann, Karl, Honisch, Ellen, Niederacher, Dieter, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Franke, Andre ORCID: 0000-0003-1530-5811, Lieb, Wolfgang, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Klaschik, Kristina, Ernst, Corinna, Ditsch, Nina, Jessen, Frank, Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (2017). Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. JAMA Oncol., 3 (9). S. 1245 - 1249. CHICAGO: AMER MEDICAL ASSOC. ISSN 2374-2445

Ng, Joanne ORCID: 0000-0002-7946-9965, Zhen, Juan ORCID: 0000-0002-6111-9692, Meyer, Esther, Erreger, Kevin, Li, Yan, Kakar, Naseebullah, Ahmad, Jamil, Thiele, Holger, Kubisch, Christian ORCID: 0000-0003-4220-0978, Rider, Nicholas L., Morton, D. Holmes, Strauss, Kevin A., Puffenberger, Erik G., D'Agnano, Daniela, Anikster, Yair, Carducci, Claudia, Hyland, Keith, Rotstein, Michael, Leuzzi, Vincenzo ORCID: 0000-0002-2314-6139, Borck, Guntram, Reith, Maarten E. A. and Kurian, Manju A. (2014). Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain, 137. S. 1107 - 1120. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Niestroj, Lisa-Marie, May, Patrick ORCID: 0000-0001-8698-3770, Artomov, Mykyta ORCID: 0000-0001-5282-8764, Kobow, Katja ORCID: 0000-0002-0074-2480, Coras, Roland, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Leu, Costin, Palotie, Aarno, Daly, Mark J., Klein, Karl Martin ORCID: 0000-0002-6654-1665, Beschorner, Rudi, Weber, Yvonne G., Bluemcke, Ingmar and Lal, Dennis (2019). Assessment of genetic variant burden in epilepsy-associated brain lesions. Eur. J. Hum. Genet., 27 (11). S. 1738 - 1745. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M., Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y., Oegema, Renske ORCID: 0000-0002-7146-617X, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale ORCID: 0000-0002-6065-1476, Nawara, Magdalena, Rzonca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmuller, Janine, Krause, Roland ORCID: 0000-0001-9938-7126, May, Patrick ORCID: 0000-0001-8698-3770, Becker, Felicitas, Balling, Rudi ORCID: 0000-0003-2902-5650, Biskup, Saskia, Haas, Stefan A., Nuernberg, Peter, van Gassen, Koen L. I., Lerche, Holger, Zara, Federico ORCID: 0000-0001-9744-5222, Maljevic, Snezana ORCID: 0000-0003-1876-5872 and Leshinsky-Silver, Esther (2017). Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain, 140. S. 2879 - 2895. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Olbrich, Heike, Cremes, Carolin, Loges, Niki T., Werner, Claudius, Nielsen, Kim G., Marthin, June K., Philipsen, Maria, Wallmeier, Julia, Pennekamp, Petra, Menchen, Tabea, Edelbusch, Christine, Dougherty, Gerard W., Schwartz, Oliver, Thiele, Holger, Altmueller, Janine, Rommelmann, Frank and Omran, Heymut (2015). Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am. J. Hum. Genet., 97 (4). S. 546 - 555. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Orban, Mathias, Karam, Nicole ORCID: 0000-0002-3861-6914, Lubos, Edith, Kalbacher, Daniel, Braun, Daniel, Deseive, Simon, Neuss, Michael, Butter, Christian, Praz, Fabien ORCID: 0000-0001-5416-165X, Kassar, Mohammad, Petrescu, Aniela, Pfister, Roman, Iliadis, Christos, Unterhuber, Matthias ORCID: 0000-0002-8175-276X, Lurz, Philipp, Thiele, Holger, Baldus, Stephan, von Bardeleben, Ralph Stephan ORCID: 0000-0002-1356-0037, Blankenberg, Stefan, Massberg, Steffen, Windecker, Stephan and Hausleiter, Joerg (2021). Impact of Proportionality of Secondary Mitral Regurgitation on Outcome After Transcatheter Mitral Valve Repair. JACC-Cardiovasc. Imag., 14 (4). S. 715 - 726. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1876-7591

Ou, Sokounthie, Cesarato, Nicole, Mauran, Pierre, Gelle, Marie-Paule, Thiele, Holger, Betz, Regina C., Viguier, Manuelle and Gusdorf, Laurence (2022). A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility. Clin. Exp. Dermatol., 47 (7). S. 1424 - 1427. HOBOKEN: WILEY. ISSN 1365-2230

Owczarek-Lipska, Marta, Reiff, Charlotte, Spital, Georg, Roeger, Carsten, Hinz, Hebke, Jueschke, Christoph, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Da Costa, Romain and Neidhardt, John (2016). Two distinct phenotypes in the same family are caused by the Schiff base counterion mutation p.E113K in rhodopsin. Invest. Ophthalmol. Vis. Sci., 57 (12). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Park, Sang-Don, Orban, Mathias, Karam, Nicole ORCID: 0000-0002-3861-6914, Lubos, Edith, Kalbacher, Daniel, Braun, Daniel, Stolz, Lukas, Neuss, Michael, Butter, Christian, Praz, Fabien ORCID: 0000-0001-5416-165X, Kassar, Mohammad, Petrescu, Aniela, Pfister, Roman, Iliadis, Christos, Unterhuber, Matthias ORCID: 0000-0002-8175-276X, Lurz, Philipp, Thiele, Holger, Baldus, Stephan, von Bardeleben, Stephan, Blankenberg, Stefan, Massberg, Steffen, Windecker, Stephan and Hausleiter, Jorg (2021). Sex-Related Clinical Characteristics and Outcomes of Patients Undergoing Transcatheter Edge-to-Edge Repair for Secondary Mitral Regurgitation. JACC-Cardiovasc. Interv., 14 (8). S. 819 - 828. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1876-7605

Pauli, Silke, Altmueller, Janine, Schroeder, Simone, Ohlenbusch, Andreas, Dreha-Kulaczewski, Steffi, Bergmann, Carsten, Nuernberg, Peter, Thiele, Holger, Li, Yun, Wollnik, Bernd and Brockmann, Knut (2019). Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J. Med. Genet., 56 (4). S. 261 - 265. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Pergande, Matthias, Motameny, Susanne, Oezdemir, Oezkan, Kreutzer, Mona, Wang, Haicui, Daimagueler, Huelya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald ORCID: 0000-0003-4587-1734, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Ozgur, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schaenzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Goknur, Topaloglu, Haluk, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Heller, Raoul and Cirak, Sebahattin (2020). The genomic and clinical landscape of fetal akinesia. Genet. Med., 22 (3). S. 511 - 524. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Perne, Claudia, Peters, Sophia, Cartolano, Maria, Horpaopan, Sukanya, Grimm, Christina, Altmuller, Janine, Sommer, Anna K., Hillmer, Axel M., Thiele, Holger, Odenthal, Margarete, Moeslein, Gabriela, Adam, Ronja, Sivalingam, Sugirthan, Kirfel, Jutta, Schweiger, Michal R., Peifer, Martin, Spier, Isabel and Aretz, Stefan (2021). Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis. PLoS One, 16 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Pilarczyk, Kevin, Bauer, Adrian, Boening, Andreas, von der Brelie, Michael, Eichler, Ingolf, Gohrbandt, Bernard, Groesdonk, Heinrich Volker, Haake, Nils, Heringlake, Matthias, Langebartels, Georg, Markewitz, Andreas, Thiele, Holger, Trummer, Georg ORCID: 0000-0001-5664-8971 and Marggraf, Guenter (2015). S3-Guideline Use of intra aortic Balloon Pumping in Cardiac Surgery under the Control of the German Society for Thoracic and Cardiovascular Surgery (DGTHG). Thorac. Cardiovasc. Surg., 63. S. S131 - 66. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1902

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Pohl-Rescigno, Esther, Hauke, Jan, Loibl, Sibylle, Moebus, Volker, Denkert, Carsten, Fasching, Peter A., Kayali, Mohamad, Ernst, Corinna ORCID: 0000-0001-7756-8815, Weber-Lassalle, Nana, Hanusch, Claus, Tesch, Hans, Mueller, Volkmar, Altmueller, Janine, Thiele, Holger ORCID: 0000-0002-0169-998X, Untch, Michael, Luebbe, Kristina, Nuernberg, Peter, Rhiem, Kerstin, Furlanetto, Jenny, Lederer, Bianca, Jackisch, Christian, Nekljudova, Valentina, Schmutzler, Rita K., Schneeweiss, Andreas and Hahnen, Eric (2020). Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer A Secondary Analysis of the GeparOcto Randomized Clinical Trial. JAMA Oncol., 6 (5). S. 744 - 749. CHICAGO: AMER MEDICAL ASSOC. ISSN 2374-2445

Ralser, Damian J., Basmanav, F. Buket Ue., Tafazzoli, Aylar, Wititsuwannakul, Jade, Delker, Sarah, Danda, Sumita, Thiele, Holger, Wolf, Sabrina, Busch, Michelle, Pulimood, Susanne A., Altmueller, Janine, Nuernberg, Peter, Lacombe, Didier ORCID: 0000-0002-8956-2207, Hillen, Uwe, Wenzel, Joerg, Frank, Jorge, Odermatt, Benjamin and Betz, Regina C. (2017). Mutations in gamma-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. J. Clin. Invest., 127 (4). S. 1485 - 1491. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Ramzan, Shafaq, Tennstedt, Stephanie ORCID: 0000-0001-9063-3087, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Khan, Sheraz ORCID: 0000-0003-3207-4074, Ul Ayan, Hafiza Noor, Ali, Aamir, Munz, Matthias, Thiele, Holger, Korejo, Asad Aslam, Mughal, Abdul Razzaq, Jamal, Syed Zahid, Nuernberg, Peter, Baig, Shahid Mahmood, Erdmann, Jeanette ORCID: 0000-0002-4486-6231 and Ahmad, Ilyas (2021). A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family. Genes, 12 (8). BASEL: MDPI. ISSN 2073-4425

Reiff, Charlotte, Owczarek-Lipska, Marta, Spital, Georg, Roeger, Carsten, Hinz, Hebke, Jueschke, Christoph, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Da Costa, Romain ORCID: 0000-0001-6729-3029 and Neidhardt, John (2016). The mutation p. E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family. Sci Rep, 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Reinthaler, Eva M., Lal, Dennis, Jurkowski, Wiktor, Feucht, Martha, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M., Geldner, Julia, Haberlandt, Edda, Neophytou, Birgit, Hahn, Andreas, Altmueller, Janine, Thiele, Holger, Toliat, Mohammad R., Lerche, Holger, Nuernberg, Peter, Sander, Thomas, Neubauer, Bernd A. and Zimprich, Fritz ORCID: 0000-0002-6998-5480 (2014). Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Epilepsia, 55 (8). S. E89 - 5. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167

Reuter, Miriam S., Zech, Michael, Hempel, Maja, Altmueller, Janine, Heung, Tracy, Poelsler, Laura, Santer, Rene, Thiele, Holger, Trost, Brett ORCID: 0000-0003-4863-7273, Kubisch, Christian ORCID: 0000-0003-4220-0978, Scherer, Stephen W. ORCID: 0000-0002-8326-1999, Rudnik-Schoneborn, Sabine, Bassett, Anne S. and Lessel, Davor ORCID: 0000-0003-4496-244X (2022). Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies. Eur. J. Hum. Genet., 30 (5). S. 611 - 619. LONDON: SPRINGERNATURE. ISSN 1476-5438

Reutter, Heiko, Keppler-Noreuil, Kim, Keegan, Catherine E., Thiele, Holger, Yamada, Gen and Ludwig, Michael (2016). Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes. Curr. Genomics, 17 (1). S. 4 - 14. SHARJAH: BENTHAM SCIENCE PUBL LTD. ISSN 1875-5488

Rieke, Johanna Magdalena, Zhang, Rong, Braun, Doreen, Yilmaz, Oeznur, Japp, Anna S., Lopes, Filipa M., Pleschka, Michael, Hilger, Alina C., Schneider, Sophia, Newman, William G., Beaman, Glenda M., Nordenskjoeld, Agneta, Ebert, Anne-Karoline, Promm, Martin, Roesch, Wolfgang H., Stein, Raimund, Hirsch, Karin, Schaefer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., Lacher, Martin, Kluth, Dietrich, Gosemann, Jan-Hendrik, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Laeckgren, Goran, Keene, David, Cervellione, Raimondo M., Giorgio, Elisa, Di Grazia, Massimo, Feitz, Wouter F. J., Marcelis, Carlo L. M., Van Rooij, Iris A. L. M., Boekenkamp, Arend, Beckers, Goedele M. A., Keegan, Catherine E., Sharma, Amit ORCID: 0000-0002-2216-5389, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip ORCID: 0000-0002-9254-1458, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger ORCID: 0000-0002-0169-998X, Ludwig, Michael, Schweizer, Ulrich ORCID: 0000-0003-1380-4780, Woolf, Adrian S. ORCID: 0000-0001-5541-1358, Odermatt, Benjamin and Reutter, Heiko (2020). SLC20A1Is Involved in Urinary Tract and Urorectal Development. Front. Cell. Dev. Biol., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-634X

Rolfes, Muriel, Borde, Julika, Moellenhoff, Kathrin, Kayali, Mohamad ORCID: 0000-0003-2092-5695, Ernst, Corinna ORCID: 0000-0001-7756-8815, Gehrig, Andrea, Sutter, Christian ORCID: 0000-0003-4051-5888, Ramser, Juliane, Niederacher, Dieter, Horvath, Judit, Arnold, Norbert, Meindl, Alfons, Auber, Bernd, Rump, Andreas, Wang-Gohrke, Shan, Ritter, Julia, Hentschel, Julia, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Rhiem, Kerstin, Engel, Christoph ORCID: 0000-0002-7247-282X, Wappenschmidt, Barbara, Schmutzler, Rita K., Hahnen, Eric and Hauke, Jan ORCID: 0000-0001-8236-4075 (2022). Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancers, 14 (13). BASEL: MDPI. ISSN 2072-6694

Romano, Maria-Teresa, Tafazzoli, Aylar, Mattern, Maximilian, Sivalingam, Sugirthan, Wolf, Sabrina, Rupp, Alexander ORCID: 0000-0002-2131-4581, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Ellwanger, Juergen, Gambon, Reto, Baumer, Alessandra, Kohlschmidt, Nicolai, Metze, Dieter, Holdenrieder, Stefan, Paus, Ralf, Luetjohann, Dieter, Frank, Jorge, Geyer, Matthias ORCID: 0000-0002-7718-5002, Bertolini, Marta ORCID: 0000-0002-5927-6998, Kokordelis, Pavlos and Betz, Regina C. (2018). Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am. J. Hum. Genet., 103 (5). S. 777 - 786. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Rosin, Nadine, Elcioglu, Nursel H., Beleggia, Filippo ORCID: 0000-0003-0234-7094, Isguven, Pinar, Altmueller, Janine, Thiele, Holger, Steindl, Katharina, Joset, Pascal, Rauch, Anita ORCID: 0000-0003-2930-3163, Nuernberg, Peter, Wollnik, Bernd and Yigit, Goekhan (2015). Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Hum. Mol. Genet., 24 (13). S. 3708 - 3718. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Royer-Pokora, Brigitte, Busch, Maike Anna, Tenbusch, Sarah, Schmidt, Mathias ORCID: 0000-0001-5554-9920, Beier, Manfred ORCID: 0000-0002-2482-1626, Woods, Andrew D., Thiele, Holger and Mora, Jaume (2021). Comprehensive Biology and Genetics Compendium of Wilms Tumor Cell Lines with Different WT1 Mutations. Cancers, 13 (1). BASEL: MDPI. ISSN 2072-6694

Rump, Andreas ORCID: 0000-0001-7116-6364, Benet-Pages, Anna, Schubert, Steffen, Kuhlmann, Jan Dominik, Janavicius, Ramunas, Machackova, Eva ORCID: 0000-0002-0246-1471, Foretov, Lenka, Kleibl, Zdenek ORCID: 0000-0003-2050-9667, Lhota, Filip, Zemankova, Petra, Betcheva-Krajcir, Elitza, Mackenroth, Luisa, Hackmann, Karl, Lehmann, Janin, Nissen, Anke, DiDonato, Nataliya, Opitz, Romy, Thiele, Holger, Kast, Karin, Wimberger, Pauline, Holinski-Feder, Elke, Emmert, Steffen, Schroeck, Evelin and Klink, Barbara (2016). Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. PLoS Genet., 12 (8). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd ORCID: 0000-0002-6555-8174, Thiele, Holger, Nuernberg, Peter, Hoehne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette and Hennekam, Raoul C. (2015). A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome. Am. J. Hum. Genet., 96 (2). S. 275 - 283. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Schaefer, Ulrich, Conradi, Lenard, Falk, Volkmar, Verheye, Stefan, Maisano, Francesco, Thiele, Holger, Landt, Martin, Haude, Michael, Baldus, Stephan, Kische, Stephan, Treede, Hendrik, Tonino, Pim and Ince, Hueseyin (2018). Acute and Six-month Outcomes of a Novel Self-expanding Transcatheter Heart Valve. J. Am. Coll. Cardiol., 72 (13). S. B18 - 2. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-3597

Schaefer, Ulrich, Kempfert, Joerg, Verheye, Stefan, Maisano, Francesco ORCID: 0000-0002-3691-1709, Thiele, Holger ORCID: 0000-0002-0169-998X, Landt, Martin, Haude, Michael, Rudolph, Tanja K., Ince, Hueseyin, Kische, Stephan, Treede, Hendrik, Tonino, Pim and Conradi, Lenard (2020). Safety and Performance Outcomes of a Self-Expanding Transcatheter Aortic Heart Valve The BIOVALVE Trials. JACC-Cardiovasc. Interv., 13 (2). S. 157 - 167. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1876-7605

Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja ORCID: 0000-0002-4472-8584, Holm, Rikke, Baumann, Matthias, Koenig, Jens, Lee, Jessica J. Y., Drogemoller, Britt ORCID: 0000-0002-3348-5855, Imminger, Katrin, Beck, Bodo B., Altmueller, Janine, Thiele, Holger, Waldegger, Siegfried, van't Hoff, William, Kleta, Robert, Warth, Richard ORCID: 0000-0001-6084-0659, van Karnebeek, Clara D. M., Vilsen, Bente ORCID: 0000-0002-4727-9382, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X and Konrad, Martin (2018). Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. Am. J. Hum. Genet., 103 (5). S. 808 - 817. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Schlingmann, Karl P., Jouret, Francois, Shen, Kuang, Nigam, Anukrati, Arjona, Francisco J., Dafinger, Claudia, Houillier, Pascal, Jones, Deborah P., Kleinerueschkamp, Felix, Oh, Jun, Godefroid, Nathalie, Eltan, Mehmet, Guran, Tulay, Burtey, Stephane, Parotte, Marie-Christine, Koenig, Jens, Braun, Alina, Bos, Caro ORCID: 0000-0001-5016-9435, Serra, Maria Ibars, Rehmann, Holger, Zwartkruis, Fried J. T., Renkema, Kirsten Y., Klingel, Karin, Schulze-Bahr, Eric, Schermer, Bernhard, Bergmann, Carsten, Altmueller, Janine, Thiele, Holger, Beck, Bodo B., Dahan, Karin, Sabatini, David, Liebau, Max C., Vargas-Poussou, Rosa, Knoers, Nine V. A. M., Konrad, Martin and de Baaij, Jeroen H. F. (2021). mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy. J. Am. Soc. Nephrol., 32 (11). S. 2885 - 2900. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Schmetz, Ariane ORCID: 0000-0001-8220-7854, Xiong, Xing ORCID: 0000-0001-5728-150X, Cesarato, Nicole, Basmanav, Fitnat Buket, Gierthmuehlen, Petra, Schaper, Joerg, Schlieper, Daniel, Wehner, Maria, Thiele, Holger, Frank, Jorge, Betz, Regina C. and Redler, Silke (2022). Phenotype diversity associated with TP63 mutations. J. Dtsch. Dermatol. Ges., 20 (6). S. 872 - 876. HOBOKEN: WILEY. ISSN 1610-0387

Schmidt, Julia, Dreha-Kulaczewski, Steffi, Zafeiriou, Maria-Patapia, Schreiber, Marie-Kristin, Wilken, Bernd, Funke, Rudolf, Neuhofer, Christiane M. ORCID: 0000-0002-5037-4444, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Biskup, Saskia, Li, Yun, Zimmermann, Wolfram Hubertus, Kaulfuss, Silke, Yigit, Goekhan and Wollnik, Bernd (2022). Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum. Front. Cell. Dev. Biol., 10. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-634X

Schmidt, Julia ORCID: 0000-0002-5942-2924, Goergens, Jonas, Pochechueva, Tatiana, Kotter, Annika, Schwenzer, Niko, Sitte, Maren, Werner, Gesa, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Isensee, Joerg, Li, Yun, Mueller, Christian, Leube, Barbara, Reinhardt, H. Christian, Hucho, Tim ORCID: 0000-0002-4147-9308, Salinas, Gabriela, Helm, Mark, Jachimowicz, Ron D., Wieczorek, Dagmar, Kohl, Tobias, Lehnart, Stephan E., Yigit, Goekhan and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2021). Biallelic variants in YRDC cause a developmental disorder with progeroid features. Hum. Genet., 140 (12). S. 1679 - 1694. NEW YORK: SPRINGER. ISSN 1432-1203

Schmidt, Julia ORCID: 0000-0002-5942-2924, Schreiber, Gudrun, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Li, Yun, Kaulfuss, Silke, Funke, Rudolf, Wilken, Bernd, Yigit, Goekhan and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2022). Familial cleft tongue caused by a unique translation initiation codon variant in TP63. Eur. J. Hum. Genet., 30 (2). S. 211 - 219. LONDON: SPRINGERNATURE. ISSN 1476-5438

Schrock, Evelin, Benet-Pages, Anna, Schuber, Steffen, Janavicius, Ramunas, Hackmann, Karl, Betcheva-Krajcir, Elitza, Mackenroth, Luisa, Lehmann, Janin, Nissen, Am, Altmueller, Janine, Thiele, Holger, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Klink, Barbara, Kuhlmann, Jan D., Tzschach, Andreas ORCID: 0000-0002-6840-965X, Kast, Karin, Wimberger, Pauline, Holinski-Feder, Elke, Meind, Alfons, Emmert, Steffen and Rump, Andreas (2015). Germline mutations in patients with hereditary breast and ovarian cancer establish ERCC2 as a cancer susceptibility gene. Cancer Res., 75. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1538-7445

Schubert, Julian, Siekierska, Aleksandra ORCID: 0000-0003-4907-605X, Langlois, Melanie, May, Patrick ORCID: 0000-0001-8698-3770, Huneau, Clement, Becker, Felicitas, Muhle, Hiltrud, Suls, Arvid ORCID: 0000-0003-0328-198X, Lemke, Johannes R., de Kovel, Carolien G. F., Thiele, Holger, Konrad, Kathryn, Kawalia, Amit, Toliat, Mohammad R., Sander, Thomas, Rueschendorf, Franz, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Nagel, Inga, Kohl, Bernard, Kecskes, Angela, Jacmin, Maxime, Hardies, Katia, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Riesch, Erik, Dorn, Thomas, Brilstra, Eva H., Baulac, Stephanie ORCID: 0000-0001-6430-4693, Moller, Rikke S., Hjalgrim, Helle, Koeleman, Bobby P. C., Jurkat-Rott, Karin, Lehman-Horn, Frank, Roach, Jared C., Glusman, Gustavo ORCID: 0000-0001-8060-5955, Hood, Leroy, Galas, David J., Martin, Benoit, de Witte, Peter A. M., Biskup, Saskia, De Jonghe, Peter, Helbig, Ingo ORCID: 0000-0001-8486-0558, Balling, Rudi ORCID: 0000-0003-2902-5650, Nuernberg, Peter, Crawford, Alexander D., Esguerra, Camila V., Weber, Yvonne G. and Lerche, Holger (2014). Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nature Genet., 46 (12). S. 1327 - 1333. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Schuster, Andreas, Thiele, Holger, Katus, Hugo, Werdan, Karl, Eitel, Ingo, Zeiher, Andreas M., Baldus, Stephan, Rolf, Andreas and Kelle, Sebastian ORCID: 0000-0001-8105-6599 (2021). Competence and innovation in cardiovascular MRI: statement of the German Cardiac Society. Kardiologe, 15 (5). S. 471 - 480. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1864-9726

Sowada, Nadine, Hashem, Mais Omar, Yilmaz, Ruestem, Hamad, Muddathir, Kakar, Naseebullah, Thiele, Holger, Arold, Stefan T., Bode, Harald, Alkuraya, Fowzan S. and Borck, Guntram (2017). Mutations of PTPN23 in developmental and epileptic encephalopathy. Hum. Genet., 136 (11-12). S. 1455 - 1462. NEW YORK: SPRINGER. ISSN 1432-1203

Spielmann, Malte ORCID: 0000-0002-0583-4683, Kakar, Naseebullah, Tayebi, Naeimeh, Leettola, Catherine, Nuernberg, Gudrun, Sowada, Nadine, Lupianez, Dario G. ORCID: 0000-0002-3165-036X, Harabula, Izabela, Floettmann, Ricarda, Horn, Denise, Chan, Wing Lee, Wittler, Lars, Yilmaz, Ruestem, Altmueller, Janine, Thiele, Holger, van Bokhoven, Hans, Schwartz, Charles E., Nuernberg, Peter, Bowie, James U., Ahmad, Jamil, Kubisch, Christian ORCID: 0000-0003-4220-0978, Mundlos, Stefan and Borck, Guntram (2016). Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome Res., 26 (2). S. 183 - 192. COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 1549-5469

Spier, Isabel, Holzapfel, Stefanie, Altmueller, Janine, Zhao, Bixiao ORCID: 0000-0002-1775-1690, Horpaopan, Sukanya, Vogt, Stefanie, Chen, Sophia, Morak, Monika, Raeder, Susanne, Kayser, Katrin, Stienen, Dietlinde, Adam, Ronja, Nuernberg, Peter, Plotz, Guido, Holinski-Feder, Elke, Lifton, Richard P., Thiele, Holger, Hoffmann, Per, Steinke, Verena and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2015). Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int. J. Cancer, 137 (2). S. 320 - 332. HOBOKEN: WILEY-BLACKWELL. ISSN 1097-0215

Spier, Isabel, Kerick, Martin ORCID: 0000-0002-6298-4514, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Horpaopan, Sukanya, Altmueller, Janine, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Adam, Ronja, Zhao, Bixiao ORCID: 0000-0002-1775-1690, Becker, Tim, Lifton, Richard P., Holinski-Feder, Elke, Perner, Sven, Thiele, Holger, Noethen, Markus M., Hoffmann, Per, Timmermann, Bernd, Schweiger, Michal R. and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2016). Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. Fam. Cancer, 15 (2). S. 281 - 289. DORDRECHT: SPRINGER. ISSN 1573-7292

Stephen, Louise A., Tawamie, Hasan, Davis, Gemma M., Tebbe, Lars, Nuernberg, Peter, Nuernberg, Gudrun, Thiele, Holger, Thoenes, Michaela, Boltshauser, Eugen, Uebe, Steffen, Rompel, Oliver, Reis, Andre ORCID: 0000-0002-6301-6363, Ekici, Arif B., McTeir, Lynn, Fraser, Amy M., Hall, Emma A., Mill, Pleasantine ORCID: 0000-0001-5218-134X, Daudet, Nicolas ORCID: 0000-0002-4039-4716, Cross, Courtney ORCID: 0000-0001-5345-9614, Wolfrum, Uwe, Abou Jamra, Rami, Davey, Megan G. and Bolz, Hanno J. (2015). TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). eLife, 4. CAMBRIDGE: ELIFE SCIENCES PUBLICATIONS LTD. ISSN 2050-084X

Sukumaran, Salil K., Stumpf, Maria, Salamon, Sarah, Ahmad, Ilyas, Bhattacharya, Kurchi, Fischer, Sarah ORCID: 0000-0001-6227-3950, Mueller, Rolf, Altmueller, Janine, Budde, Birgit, Thiele, Holger, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Malik, Naveed Altaf, Nuernberg, Peter, Baig, Shahid Mahmood, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 and Noegel, Angelika A. (2017). CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. Mol. Genet. Genomics, 292 (2). S. 365 - 384. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1617-4623

Supady, Alexander, Michels, Guido, Lepper, Philipp M., Ferrari, Markus, Wippermann, Jens, Sabashnikov, Anton, Thiele, Holger, Hennersdorf, Marcus, Lahmer, Tobias, Boeken, Udo, Gummert, Jan, Tigges, Eike, Muellenbach, Ralf M., Spangenberg, Tobias, Wengenmayer, Tobias and Staudacher, Dawid L. . ECMO support during the first two waves of the corona pandemic-a survey of high case volume centers in Germany. Med Klin Intensivmed Notfmed. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 2193-6226

Szczepanski, Sandra, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Sur, Ilknur, Altmueller, Janine, Thiele, Holger, Abdullah, Uzma, Waseem, Syeda Seema, Moawia, Abubakar, Nuernberg, Gudrun, Noegel, Angelika Anna, Baig, Shahid Mahmood and Nuernberg, Peter (2016). A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum. Genet., 135 (2). S. 157 - 171. NEW YORK: SPRINGER. ISSN 1432-1203

Taramasso, Maurizio, Benfari, Giovanni ORCID: 0000-0002-5660-6162, van der Bijl, Pieter, Alessandrini, Hannes, Attinger-Toller, Adrian, Biasco, Luigi, Lurz, Philipp, Braun, Daniel, Brochet, Eric, Connelly, Kim A., de Bruijn, Sabine, Denti, Paolo ORCID: 0000-0002-3075-0203, Deuschl, Florian, Estevez-Loureiro, Rodrigo ORCID: 0000-0001-5841-5514, Fam, Neil, Frerker, Christian, Gavazzoni, Mara, Hausleiter, Joerg, Ho, Edwin, Juliard, Jean-Michel, Kaple, Ryan, Besler, Christian, Kodali, Susheel, Kreidel, Felix, Kuck, Karl-Heinz, Latib, Azeem ORCID: 0000-0001-9035-343X, Lauten, Alexander, Monivas, Vanessa, Mehr, Michael, Muntane-Carol, Guillem, Nazif, Tamin, Nickening, Georg, Pedrazzini, Giovanni, Philippon, Francois, Pozzoli, Alberto, Praz, Fabien, Puri, Rishi, Rodes-Cabau, Josep, Schaefer, Ulrich, Schofer, Joachim, Sievert, Horst, Tang, Gilbert H. L., Thiele, Holger, Topilsky, Yan, Rommel, Karl-Philipp, Delgado, Victoria, Vahanian, Alec, Von Bardeleben, Ralph Stephan, Webb, John G., Weber, Marcel, Windecker, Stephan, Winkel, Mirjam, Zuber, Michel, Leon, Martin B., Hahn, Rebecca T., Bax, Jeroen J., Enriquez-Sarano, Maurice and Maisano, Francesco (2019). Transcatheter Versus Medical Treatment of Patients With Symptomatic Severe Tricuspid Regurgitation. J. Am. Coll. Cardiol., 74 (24). S. 2998 - 3009. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-3597

Thiele, Holger ORCID: 0000-0002-0169-998X, Freund, Anne, Gimenez, Maria Rubini, de Waha-Thiele, Suzanne, Akin, Ibrahim, Poss, Janine, Feistritzer, Hans-Josef, Fuernau, Georg ORCID: 0000-0002-3813-8772, Graf, Tobias, Nef, Holger, Hamm, Christian, Bohm, Michael, Lauten, Alexander, Schulze, P. Christian, Voigt, Ingo, Nordbeck, Peter ORCID: 0000-0002-2560-4068, Felix, Stephan B., Abel, Peter, Baldus, Stephan, Laufs, Ulrich, Lenk, Karsten, Landmesser, Ulf, Skurk, Carsten, Pieske, Burkert, Tschope, Carsten ORCID: 0000-0001-5243-8985, Hennersdorf, Marcus, Wengenmayer, Tobias, Preusch, Michael, Maier, Lars S., Jung, Christian ORCID: 0000-0001-8325-250X, Kelm, Malte, Clemmensen, Peter, Westermann, Dirk, Seidler, Tim ORCID: 0000-0002-6158-5087, Schieffer, Bernhard, Rassaf, Tienush, Mahabadi, Amir-Abbas, Vasa-Nicotera, Mariuca, Meincke, Felix, Seyfarth, Melchior, Kersten, Alexander, Rottbauer, Wolfgang, Boekstegers, Peter, Muellenbach, Ralf, Dengler, Thomas, Kadel, Christoph, Schempf, Benjamin, Karagiannidis, Christian, Hopf, Hans-Bernd, Lehmann, Ralf, Bufe, Alexander, Baumanns, Stefan, Oner, Alper, Linke, Axel, Sedding, Daniel, Ferrari, Markus, Bruch, Leonhard, Goldmann, Britta, John, Stefan, Mollmann, Helge, Franz, Jutta, Lapp, Harald, Lauten, Philipp, Noc, Marko, Goslar, Tomaz, Oerlecke, Ilka, Ouarrak, Taoufik, Schneider, Steffen, Desch, Steffen and Zeymer, Uwe (2021). Extracorporeal life support in patients with acute myocardial infarction complicated by cardiogenic shock-Design and rationale of the ECLS-SHOCK trial. Am. Heart J., 234. S. 1 - 12. NEW YORK: MOSBY-ELSEVIER. ISSN 1097-6744

Thiele, Holger, du Moulin, Marcel, Barczyk, Katarzyna, George, Christel, Schwindt, Wolfram, Nuernberg, Gudrun, Frosch, Michael, Kurlemann, Gerhard, Roth, Johannes, Nuernberg, Peter and Rutsch, Frank (2010). Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutieres Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression. Hum. Mutat., 31 (11). S. E1836 - 15. MALDEN: WILEY-BLACKWELL. ISSN 1059-7794

Thoenes, Michaela, Zimmermann, Ulrike, Ebermann, Inga, Ptok, Martin, Lewis, Morag A., Thiele, Holger, Morlot, Susanne, Hess, Markus M., Gal, Andreas, Eisenberger, Tobias, Bergmann, Carsten, Nuernberg, Gudrun, Nuernberg, Peter, Steel, Karen P., Knipper, Marlies and Bolz, Hanno Joern (2015). OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet J. Rare Dis., 10. LONDON: BMC. ISSN 1750-1172

Tiwari, Amit, Lemke, Johannes, Altmueller, Janine, Thiele, Holger, Glaus, Esther, Fleischhauer, Johannes, Nuernberg, Peter, Neidhardt, John and Berger, Wolfgang (2016). Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS One, 11 (7). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Erger, Florian ORCID: 0000-0002-2768-1702, Walsh, Patrick R., McNicholas, Bairbre, Fistrek, Margareta, Habbig, Sandra, Schumacher, Anna-Lena ORCID: 0000-0001-7739-486X, Folz-Donahue, Kat, Kukat, Christian ORCID: 0000-0003-1508-0229, Toliat, Mohammad R., Becker, Christian, Thiele, Holger, Kavanagh, David, Nuernberg, Peter, Beck, Bodo B. and Altmueller, Janine (2022). Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing. J. Mol. Diagn., 24 (6). S. 619 - 632. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1943-7811

Uddin, Syed Ashraf, Cesarato, Nicole, Humbatova, Aytaj, Schmidt, Axel, Ur Rehman, Fazal, Naeem, Muhammad, Wolf, Sabrina, Tareen, Abdul Samad, Panezai, Muhammad Anwar, Thiele, Holger ORCID: 0000-0002-0169-998X, Wali, Abdul, Foelster-Holst, Regina, Basit, Sulman ORCID: 0000-0003-4294-6825, Ayub, Muhammad and Betz, Regina C. (2020). Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing. Acta Derm.-Venereol., 100. UPPSALA: ACTA DERMATO-VENEREOLOGICA. ISSN 1651-2057

Ufartes, Roser, Berger, Hanna, Till, Katharina, Salinas, Gabriela, Sturm, Marc ORCID: 0000-0002-6552-8362, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Funke, Rudolf, Apeshiotis, Neophytos, Langen, Hendrik, Wollnik, Bernd, Borchers, Annette and Pauli, Silke (2020). De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. Hum. Genet., 139 (11). S. 1363 - 1380. NEW YORK: SPRINGER. ISSN 1432-1203

Ullah, Irfan, Kakar, Naseebullah, Schrauwen, Isabelle ORCID: 0000-0001-7310-6082, Hussain, Shabir ORCID: 0000-0001-5744-4292, Chakchouk, Imen, Liaqat, Khurram, Acharya, Anushree, Wasif, Naveed, Santos-Cortez, Regie Lyn P., Khan, Saadullah ORCID: 0000-0001-5037-1473, Aziz, Abdul, Lee, Kwanghyuk, Couthouis, Julien, Horn, Denise, Kragesteen, Bjort K., Spielmann, Malte, Thiele, Holger, Nickerson, Deborah A., Bamshad, Michael J., Gitler, Aaron D., Ahmad, Jamil, Ansar, Muhammad ORCID: 0000-0001-5891-7063, Borck, Guntram, Ahmad, Wasim and Leal, Suzanne M. (2019). Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum. Genet., 138 (6). S. 593 - 601. NEW YORK: SPRINGER. ISSN 1432-1203

Usluer, Sunay, Kayserili, Melek Asli, Eken, Asli Gundogdu, Yis, Uluc, Leu, Costin ORCID: 0000-0003-0598-3301, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Sander, Thomas and Caglayan, S. Hande (2017). Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). Eur. J. Paediatr. Neurol., 21 (5). S. 773 - 783. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

Wagener, Rabea, Lopez, Cristina ORCID: 0000-0001-6644-1659, Kleinheinz, Kortine, Bausinger, Julia, Aukema, Sietse M., Nagel, Inga, Toprak, Umut H., Seufert, Julian, Altmueller, Janine, Thiele, Holger, Schneider, Christof, Kolarova, Julia, Park, Jeongbin, Huebschmann, Daniel, Penas, Eva M. Murga, Drexler, Hans G., Attarbaschi, Andishe, Hovland, Randi, Kjeldsen, Eigil, Kneba, Michael, Kontny, Udo, de Leval, Laurence, Nuernberg, Peter, Oschlies, Ilske, Oscier, David, Schlegelberger, Brigitte, Stilgenbauer, Stephan, Woessmann, Wilhelm, Schlesner, Matthias ORCID: 0000-0002-5896-4086, Burkhardt, Birgit, Klapper, Wolfram, Jaffe, Elaine S., Kueppers, Ralf and Siebert, Reiner (2018). IG-MYC plus neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas. Blood, 132 (21). S. 2280 - 2286. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Wagener, Rabea, Seufert, Julian, Raimondi, Francesco, Bens, Susanne, Kleinheinz, Kortine, Nagel, Inga, Altmueller, Janine, Thiele, Holger, Huebschmann, Daniel, Kohler, Christian W., Nuernberg, Peter, Au-Yeung, Rex, Burkhardt, Birgit, Horn, Heike, Leoncini, Lorenzo, Jaffe, Elaine S., Ott, German, Rymkiewicz, Grzegorz ORCID: 0000-0002-3478-8014, Schlesner, Matthias ORCID: 0000-0002-5896-4086, Russell, Robert B., Klapper, Wolfram and Siebert, Reiner (2019). The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma. Blood, 133 (9). S. 962 - 967. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Wallmeier, Julia, Frank, Diana, Shoemark, Amelia, Noethe-Menchen, Tabea, Cindric, Sandra, Olbrich, Heike, Loges, Niki T., Aprea, Isabella, Dougherty, Gerard W., Pennekamp, Petra, Kaiser, Thomas ORCID: 0000-0002-6699-0014, Mitchison, Hannah M., Hogg, Claire, Carr, Siobhan B., Zariwala, Maimoona A., Ferkol, Thomas, Leigh, Margaret W., Davis, Stephanie D., Atkinson, Jeffrey, Dutcher, Susan K., Knowles, Michael R., Thiele, Holger, Altmueller, Janine, Krenz, Henrike, Woeste, Marius, Brentrup, Angela, Ahrens, Frank, Vogelberg, Christian, Morris-Rosendahl, Deborah J. and Omran, Heymut (2019). De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Am. J. Hum. Genet., 105 (5). S. 1030 - 1040. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Waseem, Syeda Seema, Moawia, Abubakar, Budde, Birgit, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Khan, Ayaz, Ali, Zafar ORCID: 0000-0002-2389-3337, Khan, Sheraz, Iqbal, Maria, Malik, Naveed Altaf ORCID: 0000-0002-7392-9449, ul Haque, Saif, Altmueller, Janine, Thiele, Holger, Hussain, Muhammad Sajid, Cirak, Sebahattin, Baig, Shahid Mahmood and Nuernberg, Peter (2021). A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. Genes, 12 (10). BASEL: MDPI. ISSN 2073-4425

Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betuel, Reutter, Heiko, Draaken, Markus ORCID: 0000-0002-4546-0786, Ludwig, Michael, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Stuart, Helen M., Ranjzad, Parisa ORCID: 0000-0001-7413-4157, Hanley, Neil A., Jennings, Rachel, Newman, William G., Wilcox, Duncan T., Thiel, Uwe, Schlingmann, Karl Peter, Beetz, Rolf, Hoyer, Peter F., Konrad, Martin, Schaefer, Franz, Nuernberg, Peter and Woolf, Adrian S. ORCID: 0000-0001-5541-1358 (2011). Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am. J. Hum. Genet., 89 (5). S. 668 - 675. CAMBRIDGE: CELL PRESS. ISSN 0002-9297

Weber-Lassalle, Nana, Borde, Julika, Weber-Lassalle, Konstantin, Horvath, Judit, Niederacher, Dieter, Arnold, Norbert ORCID: 0000-0003-4523-8808, Kaulfuss, Silke, Ernst, Corinna, Paul, Victoria G., Honisch, Ellen, Klaschik, Kristina, Volk, Alexander E., Kubisch, Christian, Rapp, Steffen, Lichey, Nadine, Altmueller, Janine, Lepkes, Louisa, Pohl-Rescigno, Esther, Thiele, Holger, Nuernberg, Peter, Larsen, Mirjam, Richters, Lisa, Rhiem, Kerstin, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric and Hauke, Jan (2019). Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. Breast Cancer Res., 21. LONDON: BMC. ISSN 1465-542X

Weber-Lassalle, Nana, Hauke, Jan, Ramser, Juliane, Richters, Lisa, Gross, Eva, Bluemcke, Britta, Gehrig, Andrea, Kahlert, Anne-Karin, Mueller, Clemens R., Hackmann, Karl, Honisch, Ellen, Weber-Lassalle, Konstantin, Niederacher, Dieter, Borde, Julika, Thiele, Holger, Ernst, Corinna, Altmueller, Janine, Neidhardt, Guido, Nuernberg, Peter, Klaschik, Kristina, Schroeder, Christopher, Platzer, Konrad ORCID: 0000-0001-6127-6308, Volk, Alexander E., Wang-Gohrke, Shan, Just, Walter, Auber, Bernd, Kubisch, Christian ORCID: 0000-0003-4220-0978, Schmidt, Gunnar, Horvath, Judit, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Arnold, Norbert ORCID: 0000-0003-4523-8808, Dworniczak, Bernd, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (2018). BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res., 20. LONDON: BMC. ISSN 1465-5411

Weissbach, Susann, Reinert, Marie-Christine, Altmueller, Janine, Kraetzner, Ralph, Thiele, Holger, Rosenbaum, Thorsten, Nuernberg, Peter and Gaertner, Jutta (2017). A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Am. J. Med. Genet. A, 173 (10). S. 2803 - 2808. HOBOKEN: WILEY. ISSN 1552-4833

Weitensteiner, Valerie, Zhang, Rong, Bungenberg, Julia, Marks, Matthias, Gehlen, Jan, Ralser, Damian J., Hilger, Alina C., Sharma, Amit ORCID: 0000-0002-2216-5389, Schumacher, Johannes, Gembruch, Ulrich ORCID: 0000-0001-8284-4669, Merz, Waltraut M., Becker, Albert, Altmueller, Janine, Thiele, Holger, Herrmann, Bernhard G., Odermatt, Benjamin, Ludwig, Michael and Reutter, Heiko (2018). Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene. Birth Defects Res., 110 (7). S. 587 - 598. HOBOKEN: WILEY. ISSN 2472-1727

Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt ORCID: 0000-0002-3679-1081, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo ORCID: 0000-0001-9599-9854, Nuernberg, Peter, Reinhardt, Richard ORCID: 0000-0001-9376-2132, Reis, Andre ORCID: 0000-0002-6301-6363, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno and Beck, Bodo B. (2018). Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations. Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Boegershausen, Nina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Steiner-Haldenstaett, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel ORCID: 0000-0002-0680-200X, Thiele, Holger, Altmueller, Janine, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Klein-Hitpass, Ludger, Bohringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Chrzanowska, Krystyna ORCID: 0000-0003-3888-0624, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina ORCID: 0000-0002-9254-0084, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O., Krajewska-Walasek, Malgorzata ORCID: 0000-0001-8721-210X, Guillen-Navarro, Encarnacion, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Ozlem, Lopez-Gonzalez, Vanesa, Kuechler, Alma, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Mari, Francesca ORCID: 0000-0003-1992-1654, Marozza, Annabella, Dramard, Michele Mathieu, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita ORCID: 0000-0003-2930-3163, Renieri, Alessandra ORCID: 0000-0002-0846-9220, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane ORCID: 0000-0001-8002-2020, Nuernberg, Peter, Rahmann, Sven, Vermeesch, Joris, Luedecke, Hermann-Josef, Zeschnigk, Michael and Wollnik, Bernd (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum. Mol. Genet., 22 (25). S. 5121 - 5136. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Wong, Keit Men ORCID: 0000-0002-5449-6318, Jepsen, Wayne M., Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Salpietro, Vincenzo, Sanchez-Castillo, Meredith, Yip, Janice, Kriouile, Yamna, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Altmuller, Janine ORCID: 0000-0003-4372-1521, Thiele, Holger, Nurnberg, Peter, Toosi, Mehran Beiraghi, Akhondian, Javad, Karimiani, Ehsan Ghayoor, Hummel-Abmeier, Hannah, Huppke, Brenda, Houlden, Henry, Gartner, Jutta, Maroofian, Reza and Huppke, Peter (2022). Mutations in TAF8 cause a neurodegenerative disorder. Brain, 145 (9). S. 3022 - 3035. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Yigit, Goekhan, Wieczorek, Dagmar, Boegershausen, Nina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Moeller-Hartmann, Claudia, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter and Wollnik, Bernd (2016). A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation. Am. J. Med. Genet. A, 170 (3). S. 728 - 734. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Stern-Schneider, Gabi, Nuernberg, Peter, Karnati, Srikanth ORCID: 0000-0001-9083-2916, Swan, Daniel ORCID: 0000-0001-8978-8129, Fateen, Ekram ORCID: 0000-0002-0777-0417, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I., Thiele, Holger, Wolfrum, Uwe, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Bolz, Hanno J. (2016). PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum. Mutat., 37 (2). S. 170 - 175. HOBOKEN: WILEY. ISSN 1098-1004

Zhang, Rong, Gehlen, Jan, Kawalia, Amit, Melissari, Maria-Theodora, Dakal, Tikam Chand, Menon, Athira M., Hoefele, Julia, Riedhammer, Korbinian, Waffenschmidt, Lea, Fabian, Julia, Breuer, Katinka, Kalanithy, Jeshurun, Hilger, Alina Christine, Sharma, Amit ORCID: 0000-0002-2216-5389, Hoelscher, Alice, Boemers, Thomas M., Pauly, Markus, Leutner, Andreas, Fuchs, Joerg, Seitz, Guido, Ludwikowski, Barbara M., Gomez, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Kurz, Ralf, Leonhardt, Johannes, Kosch, Ferdinand, Holland-Cunz, Stefan, Muensterer, Oliver ORCID: 0000-0003-2790-4395, Ure, Beno, Schmiedeke, Eberhard, Neser, Joerg, Degenhardt, Petra, Maerzheuser, Stefanie, Kleine, Katharina, Schaefer, Mattias, Spychalski, Nicole, Deffaa, Oliver J., Gosemann, Jan-Hendrik, Lacher, Martin, Heilmann-Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784, Ludwig, Michael, Grote, Phillip ORCID: 0000-0002-9254-1458, Schumacher, Johannes, Thiele, Holger ORCID: 0000-0002-0169-998X and Reutter, Heiko (2020). Human exome and mouse embryonic expression data implicateZFHX3,TRPS1, andCHD7in human esophageal atresia. PLoS One, 15 (6). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Zhang, Rong, Thiele, Holger, Bartmann, Peter, Hilger, Alina C., Berg, Christoph, Herberg, Ulrike, Klingmueller, Dietrich, Nuernberg, Peter, Ludwig, Michael and Reutter, Heiko (2016). Whole-Exome Sequencing in Nine Monozygotic Discordant Twins. Twin Res. Hum. Genet., 19 (1). S. 60 - 66. NEW YORK: CAMBRIDGE UNIV PRESS. ISSN 1839-2628

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