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2021
Schlingmann, Karl P., Jouret, Francois, Shen, Kuang, Nigam, Anukrati, Arjona, Francisco J., Dafinger, Claudia, Houillier, Pascal, Jones, Deborah P., Kleinerueschkamp, Felix, Oh, Jun, Godefroid, Nathalie, Eltan, Mehmet, Guran, Tulay, Burtey, Stephane, Parotte, Marie-Christine, Koenig, Jens, Braun, Alina, Bos, Caro 
ORCID: 0000-0001-5016-9435, Serra, Maria Ibars, Rehmann, Holger, Zwartkruis, Fried J. T., Renkema, Kirsten Y., Klingel, Karin, Schulze-Bahr, Eric, Schermer, Bernhard, Bergmann, Carsten, Altmueller, Janine, Thiele, Holger, Beck, Bodo B., Dahan, Karin, Sabatini, David, Liebau, Max C., Vargas-Poussou, Rosa, Knoers, Nine V. A. M., Konrad, Martin and de Baaij, Jeroen H. F.
(2021).
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
J. Am. Soc. Nephrol., 32 (11).
S. 2885 - 2900.
WASHINGTON:
AMER SOC NEPHROLOGY.
ISSN 1533-3450
2020
Gonzalez-Acosta, Maribel ORCID: 0000-0002-2468-3876, Marin, Fatima ORCID: 0000-0003-3534-0091, Puliafito, Benjamin, Bonifaci, Nuria, Fernandez, Anna, Navarro, Matilde, Salvador, Hector ORCID: 0000-0002-2515-0019, Balaguer, Francesc, Iglesias, Silvia, Velasco, Angela, Garces, Elia Grau, Moreno, Victor ORCID: 0000-0002-2818-5487, Gonzalez-Granado, Luis Ignacio ORCID: 0000-0001-6917-8980, Guerra-Garcia, Pilar ORCID: 0000-0002-7740-0614, Ayala, Rosa, Florkin, Benoit, Kratz, Christian, Ripperger, Tim, Rosenbaum, Thorsten, Januszkiewicz-Lewandowska, Danuta, Azizi, Amedeo A., Ragab, Iman, Nathrath, Michaela, Pander, Hans-Juergen, Lobitz, Stephan, Suerink, Manon, Dahan, Karin, Imschweiler, Thomas, Demirsoy, Ugur, Brunet, Joan ORCID: 0000-0003-1945-3512, Lazaro, Conxi, Rueda, Daniel ORCID: 0000-0002-5377-8890, Wimmer, Katharina, Capella, Gabriel and Pineda, Marta
(2020).
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
J. Med. Genet., 57 (4).
S. 269 - 274.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
2019
Gallon, Richard ORCID: 0000-0002-5395-0099, Muehlegger, Barbara, Wenzel, Soeren-Sebastian, Sheth, Harsh, Hayes, Christine, Aretz, Stefan ORCID: 0000-0002-5228-1890, Dahan, Karin, Foulkes, William, Kratz, Christian P., Ripperger, Tim, Azizi, Amedeo A., Feldman, Hagit Baris, Chong, Anne-Laure, Demirsoy, Ugur, Florkin, Benoit, Imschweiler, Thomas, Januszkiewicz-Lewandowska, Danuta ORCID: 0000-0003-2332-2750, Lobitz, Stephan ORCID: 0000-0001-5398-0610, Nathrath, Michaela, Pander, Hans-Juergen, Perez-Alonso, Vanesa, Perne, Claudia, Ragab, Iman, Rosenbaum, Thorsten, Rueda, Daniel ORCID: 0000-0002-5377-8890, Seidel, Markus G. ORCID: 0000-0003-0981-8661, Suerink, Manon, Taeubner, Julia, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Burn, John, Jackson, Michael S., Santibanez-Koref, Mauro and Wimmer, Katharina
(2019).
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum. Mutat., 40 (5).
S. 649 - 656.
HOBOKEN:
WILEY.
ISSN 1098-1004
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