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Arthuis, Chloe J., Nizon, Mathilde, Koemhoff, Martin, Beck, Bodo B., Riehmer, Vera, Bihouee, Tiphaine, Bruel, Alexandra, Benbrik, Nadir, Winer, Norbert and Isidor, Bertrand (2019). A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant. J. Obstet. Gynaecol., 39 (3). S. 395 - 398. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1364-6893
Birtel, Johannes, Spital, Georg, Book, Marius 
ORCID: 0000-0002-5178-8673, Habbig, Sandra, Baeumner, Soeren, Riehmer, Vera, Beck, Bodo B., Rosenkranz, David, Bolz, Hanno J., Dahmer-Heath, Mareike ORCID: 0000-0002-1667-7820, Herrmann, Philipp, Koenig, Jens and Issa, Peter Charbel
(2021).
NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.
Kidney Int., 100 (5).
S. 1092 - 1101.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755
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
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
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 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