Universität zu Köln

Journal Article

Beck, Bodo and Netzer, Christian (2018). Introduction to the Topic: Hereditary Kidney Disease Nephrogenics is coming of age. Med. Genet., 30 (4). S. 389 - 391. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

Boegershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Huelya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin OEzlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume ORCID: 0000-0002-9943-9368, Strom, Tim M., Fabre, Aurelie, Baynam, Gareth, Sanchez, Elodie, Nuernberg, Gudrun, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Capri, Yline, Isidor, Bertrand, Lacombe, Didier ORCID: 0000-0002-8956-2207, Corsini, Carole, Cormier-Daire, Valerie, Sanlaville, Damien ORCID: 0000-0001-9939-2849, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nuernberg, Peter, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Zoll, Barbara, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Tzschach, Andreas ORCID: 0000-0002-6840-965X, Verloes, Alain, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Touitou, Isabelle, Netzer, Christian, Li, Yun, Genevieve, David, Yigit, Goekhan and Wollnik, Bernd (2016). Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Hum. Mutat., 37 (9). S. 847 - 865. HOBOKEN: WILEY. ISSN 1098-1004

Costantini, Alice, Vuorimies, Ilkka, Makitie, Riikka, Mayranpaa, Mervi K., Becker, Jutta, Pekkinen, Minna, Valta, Helena, Netzer, Christian, Kampe, Anders, Taylan, Fulya ORCID: 0000-0002-2907-0235, Jiao, Hong and Makitie, Outi (2017). CRTAP variants in early-onset osteoporosis and recurrent fractures. Am. J. Med. Genet. A, 173 (3). S. 806 - 809. HOBOKEN: WILEY. ISSN 1552-4833

Dron, Jacqueline S., Wang, Jian, Berberich, Amanda J., Iacocca, Michael A., Cao, Henian, Yang, Ping, Knoll, Joan, Tremblay, Karine, Brisson, Diane, Netzer, Christian, Gouni-Berthold, Ioanna, Gaudet, Daniel and Hegele, Robert A. (2018). Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia. J. Lipid Res., 59 (8). S. 1529 - 1536. ROCKVILLE: AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC. ISSN 1539-7262

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

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, 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

Hoyer-Kuhn, Heike, Rehberg, Mirko, Netzer, Christian, Schoenau, Eckhard and Semler, Oliver ORCID: 0000-0003-0029-7556 (2019). Individualized treatment with denosumab in children with osteogenesis imperfecta - follow up of a trial cohort. Orphanet J. Rare Dis., 14 (1). LONDON: BMC. ISSN 1750-1172

Kubisch, Christian, Felbor, Ute, Netzer, Christian, Siebert, Reiner and Wieczorek, Dagmar (2016). Liquid Biopsies. Med. Genet., 28 (2). S. 233 - 234. NEW YORK: SPRINGER. ISSN 1863-5490

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

Moosa, Shahida ORCID: 0000-0002-4463-3067, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sergio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, de Menezes, Hamilton Cabral, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Jr., Bezerra Carniero, Tulio Canella, Giunta, Cecilia ORCID: 0000-0002-9313-8257, Rohrbach, Marianne ORCID: 0000-0002-4013-6012, Janner, Marco, Semler, Oliver, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Li, Yun, Yigit, Goekhan, Reintjes, Nadine, Altmueller, Janine, Nuernberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd and Netzer, Christian (2019). Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. Am. J. Hum. Genet., 105 (4). S. 836 - 844. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Rehberg, Mirko, Etich, Julia, Lessmeier, Lennart, Sill, Helge, Netzer, Christian and Semler, Oliver (2019). Osteogenesis imperfecta: Pathophysiology and current treatment strategies. Med. Genet., 31 (4). S. 372 - 382. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

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

van Dijk, Fleur S., Semler, Oliver, Etich, Julia ORCID: 0000-0003-3238-6692, Koehler, Anna, Jimenez-Estrada, Juan A., Bravenboer, Nathalie, Claeys, Lauria, Riesebos, Elise, Gegic, Sejla, Piersma, Sander R., Jimenez, Connie R., Waisfisz, Quinten, Flores, Carmen-Lisset ORCID: 0000-0002-2439-5030, Nevado, Julian, Harsevoort, Arjan J., Janus, Guus J. M., Franken, Anton A. M., van der Sar, Astrid M., Meijers-Heijboer, Hanne, Heath, Karen E., Lapunzina, Pablo, Nikkels, Peter G. J., Santen, Gijs W. E., Nuechel, Julian, Plomann, Markus, Wagener, Raimund, Rehberg, Mirko, Hoyer-Kuhn, Heike, Eekhoff, Elisabeth M. W., Pals, Gerard, Morgelin, Matthias, Newstead, Simon, Wilson, Brian T., Ruiz-Perez, Victor L., Maugeri, Alessandra, Netzer, Christian, Zaucke, Frank and Micha, Dimitra ORCID: 0000-0001-7890-4411 (2020). Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. Am. J. Hum. Genet., 107 (5). S. 989 - 1000. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin ORCID: 0000-0003-0683-9731, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Woedl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna ORCID: 0000-0003-3888-0624, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hulya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata ORCID: 0000-0001-8721-210X, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, Lopez-Gonzalez, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco ORCID: 0000-0002-0589-2584, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane ORCID: 0000-0002-1772-0106, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen ORCID: 0000-0003-4271-5859, Pasquier, Laurent ORCID: 0000-0003-3985-1286, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline ORCID: 0000-0002-9789-3591, Ropers, Fabienne G., Rosello, Monica ORCID: 0000-0001-9234-2953, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill and Santen, Gijs W. E. (2019). The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet. Med., 21 (6). S. 1295 - 1308. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366