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Number of items: 18.

Journal Article

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

Netzer, Christian, Velmans, Clara, Erger, Florian ORCID: 0000-0002-2768-1702 and Schreml, Julia (2021). Carrier testing for autosomal recessive disorders: a look at current practice in Germany. Med. Genet., 33 (1). S. 13 - 20. BERLIN: WALTER DE GRUYTER GMBH. ISSN 1863-5490

Theobald, Sebastian J., Simonis, Alexander ORCID: 0000-0003-2945-9897, Georgomanolis, Theodoros ORCID: 0000-0002-4066-9257, Kreer, Christoph ORCID: 0000-0002-9140-9850, Zehner, Matthias, Eisfeld, Hannah S., Albert, Marie-Christine, Chhen, Jason, Motameny, Susanne, Erger, Florian ORCID: 0000-0002-2768-1702, Fischer, Julia ORCID: 0000-0001-6138-7454, Malin, Jakob J. ORCID: 0000-0002-2989-0436, Graeb, Jessica, Winter, Sandra, Pouikli, Andromachi ORCID: 0000-0003-1868-6875, David, Friederike ORCID: 0000-0001-9521-5669, Boell, Boris, Koehler, Philipp ORCID: 0000-0002-7386-7495, Vanshylla, Kanika ORCID: 0000-0003-4552-9170, Gruell, Henning, Suarez, Isabelle, Hallek, Michael, Faetkenheuer, Gerd, Jung, Norma, Cornely, Oliver A., Lehmann, Clara, Tessarz, Peter ORCID: 0000-0002-6953-9835, Altmueller, Janine, Nuernberg, Peter, Kashkar, Hamid, Klein, Florian, Koch, Manuel ORCID: 0000-0002-2962-7814 and Rybniker, Jan (2021). Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19. EMBO Mol. Med., 13 (8). HOBOKEN: WILEY. ISSN 1757-4684

Theobald, Sebastian ORCID: 0000-0001-7042-8326, Simonis, Alexander ORCID: 0000-0003-2945-9897, Georgomanolis, Theodoros ORCID: 0000-0002-4066-9257, Kreer, Christoph ORCID: 0000-0002-9140-9850, Zehner, Matthias ORCID: 0000-0001-5745-0836, Eisfeld, Hannah S, Albert, Marie‐Christine, Chhen, Jason, Motameny, Susanne ORCID: 0000-0003-1186-1108, Erger, Florian ORCID: 0000-0002-2768-1702, Fischer, Julia ORCID: 0000-0001-6138-7454, Malin, Jakob J ORCID: 0000-0002-2989-0436, Gräb, Jessica, Winter, Sandra ORCID: 0000-0002-4930-2005, Pouikli, Andromachi ORCID: 0000-0003-1868-6875, David, Friederike ORCID: 0000-0001-9521-5669, Böll, Boris ORCID: 0000-0002-6432-0981, Koehler, Philipp ORCID: 0000-0002-7386-7495, Vanshylla, Kanika ORCID: 0000-0003-4552-9170, Gruell, Henning ORCID: 0000-0002-0725-7138, Suarez, Isabelle ORCID: 0000-0002-9863-9675, Hallek, Michael ORCID: 0000-0002-7425-4455, Fätkenheuer, Gerd ORCID: 0000-0002-5054-1871, Jung, Norma ORCID: 0000-0002-5740-0772, Cornely, Oliver A. ORCID: 0000-0001-9599-3137, Lehmann, Clara ORCID: 0000-0002-7042-1578, Tessarz, Peter ORCID: 0000-0002-6953-9835, Altmüller, Janine, Nürnberg, Peter ORCID: 0000-0002-7228-428X, Kashkar, Hamid ORCID: 0000-0003-2796-1429, Klein, Florian ORCID: 0000-0003-1376-1792, Koch, Manuel ORCID: 0000-0002-2962-7814 and Rybniker, Jan ORCID: 0000-0001-8351-2690 (2021). Long‐lived macrophage reprogramming drives spike protein‐mediated inflammasome activation in COVID‐19. EMBO Molecular Medicine, 13 (8). e14150. Wiley. ISSN 1757-4676

Marbach, Felix ORCID: 0000-0003-3953-6235, Stoyanov, Georgi, Erger, Florian ORCID: 0000-0002-2768-1702, Stratakis, Constantine A., Settas, Nikolaos, London, Edra, Rosenfeld, Jill A., Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F., Martinez-Agosto, Julian A., Palmer, Christina G. S., Signer, Rebecca H., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Daya, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah ORCID: 0000-0001-9906-4968, Krasnewich, Donna M., Kravets, Elijah, Krier, Joel B., LaMoure, Grace L., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, MacRae, Calum A., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martinez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Moretti, Paolo, Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, C. Ron, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Signer, Rebecca H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L. M., Tan, Queenie K. -G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya ORCID: 0000-0003-2172-8036, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan, Andrews, Marisa V., Grange, Dorothy K., Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiss, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber and Schaaf, Christian P. (2021). Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genet. Med., 23 (8). S. 1465 - 1474. LONDON: SPRINGERNATURE. ISSN 1530-0366

Erger, Florian ORCID: 0000-0002-2768-1702 and Beck, Bodo B. (2021). A new era of treatment for primary hyperoxaluria type 1. Nat. Rev. Nephrol., 17 (9). S. 573 - 575. BERLIN: NATURE PORTFOLIO. ISSN 1759-507X

Taylan, Christina, Wenzel, Andrea, Erger, Florian ORCID: 0000-0002-2768-1702, Goebel, Heike, Weber, Lutz T. and Beck, Bodo B. (2020). Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease. Front. Pediatr., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-2360

Hackl, Agnes, Erger, Florian ORCID: 0000-0002-2768-1702, Skerka, Christine, Wenzel, Andrea, Tschernoster, Nikolai, Ehren, Rasmus, Burgmaier, Kathrin, Riehmer, Vera, Licht, Christoph, Kirschfink, Michael, Weber, Lutz T., Altmueller, Janine, Zipfel, Peter F. and Habbig, Sandra (2020). Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies. Clin. Nephrol., 94 (4). S. 197 - 207. DEISENHOFEN-MUENCHEN: DUSTRI-VERLAG DR KARL FEISTLE. ISSN 0301-0430

Erger, Florian ORCID: 0000-0002-2768-1702, Noerling, Deborah, Borchert, Domenica, Leenen, Esther, Habbig, Sandra, Wiesener, Michael S., Bartram, Malte P., Wenzel, Andrea, Becker, Christian, Toliat, Mohammad R., Nuernberg, Peter, Beck, Bodo B. and Altmueller, Janine (2020). cfNOMe- A single assay for comprehensive epigenetic analyses of cell-free DNA. Genome Med., 12 (1). LONDON: BMC. ISSN 1756-994X

Marbach, Felix, Rustad, Cecilie F., Riess, Angelika, Dukic, Dejan, Hsieh, Tzung-Chien ORCID: 0000-0003-3828-4419, Jobani, Itamar, Prescott, Trine, Bevot, Andrea, Erger, Florian ORCID: 0000-0002-2768-1702, Houge, Gunnar, Redfors, Maria, Altmueller, Janine, Stokowy, Tomasz ORCID: 0000-0003-0017-8338, Gilissen, Christian ORCID: 0000-0003-1693-9699, Kubisch, Christian, Scarano, Emanuela, Mazzanti, Laura, Fiskerstrand, Torunn, Krawitz, Peter M., Lessel, Davor ORCID: 0000-0003-4496-244X and Netzer, Christian (2019). The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. Am. J. Hum. Genet., 104 (4). S. 749 - 758. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Murakami, Yoshiko, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba ORCID: 0000-0001-5371-6756, Rousseau, Justine ORCID: 0000-0002-3554-2673, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian ORCID: 0000-0002-2768-1702, Altmueller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna ORCID: 0000-0002-7560-797X, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth ORCID: 0000-0001-6749-3661, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, Maria Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh and Campeau, Philippe M. (2019). Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. Am. J. Hum. Genet., 105 (2). S. 384 - 395. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Garrelfs, Sander F., Rumsby, Gill, Peters-Sengers, Hessel ORCID: 0000-0003-3145-864X, Erger, Florian ORCID: 0000-0002-2768-1702, Groothoff, Jaap W., Beck, Bodo B., Oosterveld, Michiel J. S., Pelle, Alessandra, Neuhaus, Thomas, Adams, Brigitte, Cochat, Pierre, Salido, Eduardo, Lipkin, Graham W., Hoppe, Bernd and Hulton, Sally-Anne (2019). Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up. Kidney Int., 96 (6). S. 1389 - 1400. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Erger, Florian ORCID: 0000-0002-2768-1702, Schaaf, Christian P. and Netzer, Christian (2019). Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. Mol. Cell. Probes, 45. S. 84 - 89. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 0890-8508

Erger, Florian ORCID: 0000-0002-2768-1702 (2018). Monogenic forms of arterial hypertension. Med. Genet., 30 (4). S. 391 - 400. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian ORCID: 0000-0002-2768-1702, Feldkoetter, Markus, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Gokce, Ibrahim ORCID: 0000-0002-6896-5162, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Massella, Laura, Mekahli, Djalila ORCID: 0000-0003-0954-6088, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa ORCID: 0000-0002-0702-4932, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Late, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata ORCID: 0000-0001-6613-1642, Tabel, Yilmaz, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Testa, Sara, Thumfart, Julia ORCID: 0000-0003-1162-5295, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Wuehl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2018). Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease. J. Pediatr., 199. S. 22 - 35. NEW YORK: MOSBY-ELSEVIER. ISSN 1097-6833

Erger, Florian ORCID: 0000-0002-2768-1702, Burau, Karin, Elsaesser, Michael, Zimmermann, Katharina, Moog, Ute and Netzer, Christian (2018). Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses. Eur. J. Hum. Genet., 26 (9). S. 1392 - 1396. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Erger, Florian ORCID: 0000-0002-2768-1702, Bruechle, Nadina Ortiz, Gembruch, Ulrich ORCID: 0000-0001-8284-4669 and Zerres, Klaus (2017). Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases. Arch. Gynecol. Obstet., 295 (4). S. 897 - 907. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-0711

Riehmer, Vera, Erger, Florian ORCID: 0000-0002-2768-1702, Herkenrath, Peter, Seland, Saskia, Jackels, Miriam, Wiater, Alfred, Heller, Raoul, Beck, Bodo B. and Netzer, Christian (2017). A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome. Am. J. Med. Genet. A, 173 (8). S. 2132 - 2139. HOBOKEN: WILEY. ISSN 1552-4833

This list was generated on Mon Nov 25 18:17:41 2024 CET.