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Journal Article
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
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, 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
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, 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.
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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
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WILEY.
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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
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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
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Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
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NATURE PUBLISHING GROUP.
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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
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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.
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BMJ PUBLISHING GROUP.
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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
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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
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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
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Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome.
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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
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De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
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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
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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
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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:
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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
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Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling.
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NEW YORK:
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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
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
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Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.
Transl. Psychiatr., 10 (1).
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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
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Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Hum. Genet., 139 (11).
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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.
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Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A Mutation.
Ann. Neurol., 79 (3).
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WILEY.
ISSN 1531-8249
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.
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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
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Long-Term Prognosis of Patients With Takotsubo Syndrome.
J. Am. Coll. Cardiol., 72 (8).
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NEW YORK:
ELSEVIER SCIENCE INC.
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Ghadri, Jelena R., Sarcon, Annahita, Diekmann, Johanna, Bataiosu, Dana Roxana, Cammann, Victoria L., Jurisic, Stjepan, Napp, Lars Christian, Jaguszewski, Milosz ORCID: 0000-0002-2555-593X, Scherff, Frank, Brugger, Peter, Jancke, Lutz, Seifert, Burkhardt, Bax, Jeroen J., Ruschitzka, Frank, Luscher, Thomas F., Templin, Christian, Schwyzer, Moritz, 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, Kuck, Karl-Heinz, 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 and Prasad, Abhiram
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Happy heart syndrome: role of positive emotional stress in takotsubo syndrome.
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OXFORD:
OXFORD UNIV PRESS.
ISSN 1522-9645
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
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ORCID: 0000-0001-9945-0842, Jaguszewski, Milosz, Noutsias, Michel, Muenzel, Thomas, Knorr, Maike, Heiner, Susanne, 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
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WILEY.
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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
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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).
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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
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SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Ann. Neurol., 86 (3).
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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
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Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
Am. J. Med. Genet. A, 179 (8).
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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
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Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Hum. Mutat., 39 (9).
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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
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Impact of effective regurgitant orifice area on outcome of secondary mitral regurgitation transcatheter repair.
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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
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Impact of Right Ventricular Dysfunction on Outcomes After Transcatheter Edge-to-Edge Repair for Secondary Mitral Regurgitation.
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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
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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).
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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
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HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
Birth Defects Res., 111 (10).
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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
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A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Clin. Genet., 100 (4).
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WILEY.
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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
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Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
Neuromusc. Disord., 30 (7).
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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
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Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Hum. Mutat., 42 (4).
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WILEY.
ISSN 1098-1004
Keller, Natalie, Paketci, Cem, Edem, Pinar, Thiele, Holger, Yis, Uluc, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Karakaya, Mert
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De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy.
Eur. J. Med. Genet., 64 (2).
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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
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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).
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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
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MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease.
Eur. J. Med. Genet., 64 (10).
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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
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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
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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.
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Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction.
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CELL PRESS.
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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
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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).
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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.
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Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Am. J. Hum. Genet., 104 (5).
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ISSN 1537-6605
Kolvenbach, Caroline M., Frese, Sandra K., Dworschak, Gabriel C., Japp, Anna, Schmidt, Johanna M., Zaniew, Martin, Newman, William, Beaman, Glenda, Stuart, Helen, Woolf, Adrian S. ORCID: 0000-0001-5541-1358, Cervellione, Raimondo, Roesch, Wolfgang, Weber, Stefanie, Merz, Waldtraut, Hildebrandt, Friedhelm, Feldkoetter, Markus, Hoppe, Bernd, Thiele, Holger, Altmueller, Lanine, Berg, Christoph, Ludwig, Michael, Grote, Philipp, Renner, Heiko, Odermatt, Benjamin and Hilger, Alina C.
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MUTATIONS IN BNC2 LEAD TO AUTOSOMAL-DOMINANT LOWER URINARY TRACT OBSTRUCTION (LUTO).
Pediatr. Nephrol., 33 (10).
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Korenke, Georg-Christoph, Eggert, Marlene, Thiele, Holger, Nuernberg, Peter, Sander, Thomas and Steinlein, Ortrud K. (2016). Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia, 57 (3). S. E60 - 4. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167
Kuck, Karl-Heinz, Bleiziffer, Sabine, Eggebrecht, Holger, Ensminger, Stephan, Frerker, Christian, Moellmann, Helge, Nef, Holger, Thiele, Holger ORCID: 0000-0002-0169-998X, Treede, Hendrik, Wimmer-Greinecker, Gerhard and Walther, Thomas
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Consensus paper of the German Cardiac Society (DGK) and the German Society for Thoracic and Cardiovascular Surgery (DGTHG) on transcatheter aortic valve implantation (TAVI) 2020.
Z. Herz Thorax Gefasschir., 34 (3).
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Kudin, Alexei P., Baron, Gregor, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Hampel, Kevin G., Elger, Christian E., Grote, Alexander, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Nuernberg, Peter, Schulz, Herbert, Ruppert, Ann-Kathrin, Sander, Thomas, Cheng, Qing, Arner, Elias S. J., Schomburg, Lutz, Seeher, Sandra, Fradejas-Villar, Noelia, Schweizer, Ulrich
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Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy.
Free Radic. Biol. Med., 106.
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ORCID: 0000-0003-4839-9834, Wenzel, Andrea, Reusch, Bjorn, Vitzthum, Helga, Priem, Dario
ORCID: 0000-0002-2527-1101, Demaretz, Sylvie, Bergmann, Klasien, Duin, Leonie K., Goebel, Heike, Mache, Christoph, Thiele, Holger, Bartram, Malte P., Dombret, Carlos, Altmueller, Janine, Nuernberg, Peter, Benzing, Thomas, Levtchenko, Elena, Seyberth, Hannsjoerg W., Klaus, Guenter, Yigit, Goekhan, Lin, Shih-Hua, Timmer, Albert, de Koning, Tom J., Scherjon, Sicco A., Schlingmann, Karl P., Bertrand, Mathieu J. M., Rinschen, Markus M., de Backer, Olivier, Konrad, Martin and Koemhoff, Martin
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Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
N. Engl. J. Med., 374 (19).
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Lal, Dennis, Neubauer, Bernd A., Toliat, Mohammad R., Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Kamrath, Clemens, Schaenzer, Anne, Sander, Thomas, Hahn, Andreas and Nothnagel, Michael ORCID: 0000-0001-8305-7114
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Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.
PLoS One, 11 (1).
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Lal, Dennis, Reinthaler, Eva M., Altmueller, Janine, Toliat, Mohammad R., Thiele, Holger, Nuernberg, Peter, Lerche, Holger, Hahn, Andreas, Moller, Rikke S., Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz ORCID: 0000-0002-6998-5480 and Neubauer, Bernd A.
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RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy.
PLoS One, 8 (9).
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ORCID: 0000-0001-9744-5222, Hahn, Andreas, Gormley, Padhraig
ORCID: 0000-0002-8908-6968, Becker, Felicitas, Weber, Yvonne G., Cilio, Maria Roberta, Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Krause, Roland
ORCID: 0000-0001-9938-7126, Zimprich, Fritz
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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
PLoS One, 11 (3).
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Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Muhle, Hiltrud, Riesch, Erik, Kluger, Gerhard, Jabbari, Kamel, Kawalia, Amit, Baeumel, Christine, Holthausen, Hans, Hahn, Andreas, Feucht, Martha, Neophytou, Birgit, Haberlandt, Edda, Becker, Felicitas, Altmueller, Janine, Thiele, Holger, Lemke, Johannes R., Lerche, Holger, Nuernberg, Peter, Sander, Thomas, Weber, Yvonne, Zimprich, Fritz ORCID: 0000-0002-6998-5480 and Neubauer, Bernd A.
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DEPDC5 Mutations in Genetic Focal Epilepsies of Childhood.
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ORCID: 0000-0001-8486-0558, Becker, Albert J., Schoch, Susanne, Hansen, Joerg, Dorn, Thomas, Hohl, Christin, Luescher, Nicole, von Spiczak, Sarah and Lemke, Johannes R.
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Investigation of GRIN2A in common epilepsy phenotypes.
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Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schutz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline ORCID: 0000-0003-1272-0518, Heron, Delphine, Moller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nurnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik
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ORCID: 0000-0001-9926-0598, de Kovel, Carolien G. F., Weckhuysen, Sarah
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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Hum. Genet., 137 (11-12).
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NEW YORK:
SPRINGER.
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Lessel, Davor ORCID: 0000-0003-4496-244X, Rading, Katrin, Campbell, Susan E., Thiele, Holger, Altmueller, Janine, Gordon, Leslie B. and Kubisch, Christian
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A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.
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WILEY.
ISSN 1552-4833
Lessel, Davor ORCID: 0000-0003-4496-244X, Saha, Bidisha, Hisama, Fuki, Kaymakamzade, Bahar, Nurlu, Gulay, Gursoy-Oezdemir, Yasemin, Thiele, Holger, Nuernberg, Peter, Martin, George M., Kubisch, Christian
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Atypical Aicardi-Goutieres Syndrome: Is the WRN Locus a Modifier?
Am. J. Med. Genet. A, 164 (10).
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Lessel, Davor ORCID: 0000-0003-4496-244X, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J., Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie
ORCID: 0000-0003-2714-965X, Sim, Joe C. H., Smith, Katherine R., Oehler, Judith, Cabrera, Elisa, Freire, Raimundo
ORCID: 0000-0003-4473-8894, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J., Delatycki, Martin B., Barbi, Gotthold, von Ameln, Simon
ORCID: 0000-0002-2242-3165, Hoegel, Josef, Degoricija, Marina
ORCID: 0000-0001-7023-9381, Fertig, Regina, Burkhalter, Martin D., Hofmann, Kay
ORCID: 0000-0002-2289-9083, Thiele, Holger, Altmueller, Janine, Nuernberg, Gudrun, Nuernberg, Peter, Bahlo, Melanie
ORCID: 0000-0001-5132-0774, Martin, George M., Aalfs, Cora M., Oshima, Junko, Terzic, Janos, Amor, David J., Dikic, Ivan
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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
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ORCID: 0000-0003-4681-7844, Lessel, Ivana, Alwasiyah, Mohammad K., Saha, Bidisha, Hisama, Fuki M.
ORCID: 0000-0001-7772-7855, Rading, Katrin, Goebel, Ingrid, Schuetz, Petra, Speit, Guenter, Hoegel, Josef, Thiele, Holger, Nuernberg, Gudrun, Nuernberg, Peter, Hammerschmidt, Matthias, Zhu, Yan, Tong, David R., Katz, Chen, Martin, George M., Oshima, Junko, Prives, Carol and Kubisch, Christian
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AMER SOC CLINICAL INVESTIGATION INC.
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Li, Melody, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Phillips, A. Marie, Petrovski, Slave, Hildebrand, Michael S., Burgess, Rosemary, Mount, Therese, Zara, Federico
ORCID: 0000-0001-9744-5222, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Schubert, Julian, Thiele, Holger, Nuernberg, Peter, Wong, Michael, Weisenberg, Judith L., Thio, Liu Lin
ORCID: 0000-0002-9779-7903, Lerche, Holger, Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven
ORCID: 0000-0002-4960-6375 and Reid, Christopher A.
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Gain-of-function HCN2 variants in genetic epilepsy.
Hum. Mutat., 39 (2).
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ISSN 1098-1004
Lopez, Cristina ORCID: 0000-0001-6644-1659, Wagener, Rabea, 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
ORCID: 0000-0003-3994-516X, Nuernberg, Peter, Oschlies, Ilske, Oscier, David, Schlegelberger, Brigitte, Stilgenbauer, Stephan, Woessmann, Wilhelm, Schlesner, Matthias, Burkhardt, Birgit, Klapper, Wolfram, Jaffe, Elaine S., Kueppers, Ralf and Siebert, Reiner
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IG-MYC-positive leukemia and lymphoma with precursor B-cell phenotype are genetically and epigenetically distinct from Burkitt lymphomas.
Br. J. Haematol., 182.
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Maaser, Anna, Forstner, Andreas J., Strohmaier, Jana, Hecker, Julian, Ludwig, Kerstin U., Sivalingam, Sugirthan, Streit, Fabian, Degenhardt, Franziska, Witt, Stephanie H., Reinbold, Celine S., Koller, Anna C., Raff, Ruth, Heilmann-Heimbach, Stefanie, Fischer, Sascha B., Herms, Stefan ORCID: 0000-0002-2786-8200, Hoffmann, Per, Thiele, Holger, Nuernberg, Peter, Fier, Heide Loehlein, Orozco-Diaz, Guillermo, Carmenate-Naranjo, Deinys, Proenza-Barzaga, Niurka, Auburger, Georg W. J., Andlauer, Till F. M., Cichon, Sven, Marcheco-Teruel, Beatriz, Mors, Ole, Rietschel, Marcella and Noethen, Markus M.
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Exome sequencing in large, multiplex bipolar disorder families from Cuba.
PLoS One, 13 (10).
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PUBLIC LIBRARY SCIENCE.
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Makhdoom, Ehtisham Ul Haq, Waseem, Syeda Seema, Iqbal, Maria, Abdullah, Uzma ORCID: 0000-0002-7168-8266, Hussain, Ghulam, Asif, Maria, Budde, Birgit, Hoehne, Wolfgang, Tinschert, Sigrid, Saadi, Saadia Maryam
ORCID: 0000-0001-5962-2101, Yousaf, Hammad, Ali, Zafar
ORCID: 0000-0002-2389-3337, Fatima, Ambrin, Kaygusuz, Emrah, Khan, Ayaz, Jameel, Muhammad, Khan, Sheraz, Tariq, Muhammad
ORCID: 0000-0002-5334-403X, Anjum, Iram, Altmueller, Janine, Thiele, Holger, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid
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Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Genes, 12 (5).
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MDPI.
ISSN 2073-4425
Malki, Liron, Sarig, Ofer, Cesarato, Nicole, Mohamad, Janan, Canter, Talia, Assaf, Sari, Pavlovsky, Mor, Vodo, Dan, Anis, Yossi, Bihari, Ofer, Malovitski, Kiril, Gat, Andrea, Thiele, Holger ORCID: 0000-0002-0169-998X, White, Bethany E. Perez, Samuelov, Liat, Nanda, Arti, Paller, Amy S., Betz, Regina C. and Sprecher, Eli
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Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.
Genet. Med., 22 (7).
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NEW YORK:
NATURE PUBLISHING GROUP.
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Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid
ORCID: 0000-0002-1353-8809, Bicknell, Louise S., Leitch, Andrea, Nuernberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E., Hunt, David, Khan, Fawad, Ali, Zafar
ORCID: 0000-0002-2389-3337, Tinschert, Sigrid, Ding, James
ORCID: 0000-0001-7273-9646, Keith, Charlotte, Harley, Margaret E., Heyn, Patricia, Mueller, Rolf, Hoffmann, Ingrid, Cormier-Daire, Valerie, Dollfus, Helene, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana
ORCID: 0000-0002-8467-4728, Mendoza-Londono, Roberto, Moore, Anthony T., Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmueller, Janine, Hoehne, Wolfgang, Hurles, Matthew E., Noegel, Angelika Anna, Baig, Shahid Mahmood, Nuernberg, Peter and Jackson, Andrew P.
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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Nature Genet., 46 (12).
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NEW YORK:
NATURE PUBLISHING GROUP.
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Mauri, Victor, Abdel-Wahab, Mohamed, Bleiziffer, Sabine, Veulemans, Verena, Sedaghat, Alexander, Adam, Matti, Nickenig, Georg, Kelm, Malte, Thiele, Holger, Baldus, Stephan and Rudolph, Tanja K. . Temporal trends of TAVI treatment characteristics in high volume centers in Germany 2013-2020. Clin. Res. Cardiol.. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1861-0692
Mauri, Victor, Besler, Christian, Riebisch, Matthias, Al-Hammadi, Osamah, Ruf, Tobias, Gercek, Muhammed, Horn, Patrick, Grothusen, Christina, Mehr, Michael, Becher, Marc Ulrich, Mues, Christoph, Boeder, Niklas, Kreidel, Felix, Friedrichs, Kai, Westenfeld, Ralf, Braun, Daniel, Oeztuerk, Can, Baldus, Stephan, Rassaf, Tienush, Thiele, Holger, Nickenig, Georg, Hausleiter, Joerg, Moellmann, Helge, Kelm, Malte, Rudolph, Volker, von Bardeleben, Ralph-Stephan, Nef, Holger M., Luedike, Peter, Lurz, Philipp and Pfister, Roman (2020). German Multicenter Experience With a New Leaflet-Based Transcatheter Mitral Valve Repair System for Mitral Regurgitation. JACC-Cardiovasc. Interv., 13 (23). S. 2769 - 2779. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1876-7605
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ORCID: 0000-0002-4089-2280, Harrer, Merle, Bobbili, Dheeraj R., Schubert, Julian, Wolking, Stefan
ORCID: 0000-0002-1460-6623, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E., Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-Lopez, Rosa, Baulac, Stephanie
ORCID: 0000-0001-6430-4693, Marini, Carla, Thiele, Holger, Altmueller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestele, Sandrine
ORCID: 0000-0002-5982-1562, Terragni, Benedetta, Coombs, Ian D., Reid, Christopher A., Striano, Pasquale
ORCID: 0000-0002-6065-1476, Caglayan, Hande, Siren, Auli, Everett, Kate
ORCID: 0000-0001-6700-1698, Moller, Rikke S., Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Weber, Yvonne G., Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Sisodiya, Sanjay M., Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S., Trenite, Dorothee Kasteleijn-Nolst, Baykan, Betul, Ozbek, Ugur
ORCID: 0000-0001-5319-0547, Bebek, Nerses, Klein, Karl M., Rosenow, Felix, Nguyen, Dang K., Dubeau, Francois, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clement, Jean-Francois, Cieuta-Walti, Cecile, Sills, Graeme J., Auce, Pauls, Francis, Ben, Johnson, Michael R., Marson, Anthony G., Berghuis, Bianca, Sander, Josemir W., Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Krenn, Martin
ORCID: 0000-0003-3026-3082, Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi
ORCID: 0000-0003-2902-5650, Ikram, M. Arfan, Uitterlinden, Andre G., Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven
ORCID: 0000-0002-4960-6375, Mantegazza, Massimo
ORCID: 0000-0002-1070-7929, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M., Koeleman, Bobby P. C., Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael
ORCID: 0000-0001-8305-7114, Nuernberg, Peter, Maljevic, Snezana
ORCID: 0000-0003-1876-5872, Zara, Federico, Cossette, Patrick, Krause, Roland
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Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study.
Lancet Neurol., 17 (8).
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NEW YORK:
ELSEVIER SCIENCE INC.
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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
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Recommendations for extracorporeal cardiopulmonary resuscitation (eCPR): consensus statement of DGIIN, DGK, DGTHG, DGfK, DGNI, DGAI, DIVI and GRC.
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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
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OXFORD:
OXFORD UNIV PRESS.
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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
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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
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Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.
Clin. Genet., 100 (1).
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Moosa, Shahida ORCID: 0000-0002-4463-3067, Fano, Virginia, Obregon, Maria Gabriela, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Nishimura, Gen and Wollnik, Bernd
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A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival.
Am. J. Med. Genet. A, 170 (9).
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Moosa, Shahida ORCID: 0000-0002-4463-3067, Haagerup, Annette, Gregersen, Pernille Axel, Petersen, Karin Kastberg, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Cho, Tae-Joon
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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).
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Moosa, Shahida ORCID: 0000-0002-4463-3067, Obregon, Maria Gabriela, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Fano, Virginia and Wollnik, Bernd
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Novel IFT122 Mutations in Three Argentinian Patients with Cranioectodermal Dysplasia: Expanding the Mutational Spectrum.
Am. J. Med. Genet. A, 170 (5).
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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
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Coexistence and outcome of coronary artery disease in Takotsubo syndrome.
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OXFORD:
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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
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ORCID: 0000-0002-3348-5855, Imminger, Katrin, Beck, Bodo B., Altmueller, Janine, Thiele, Holger, Waldegger, Siegfried, van't Hoff, William, Kleta, Robert, Warth, Richard
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