CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients

por Requena, Francisco, Abdallah, Hamza Hadj, García, Alejandro, Nitschké, Patrick, Romana, Sergi, Malan, Valérie, Rausell, Antonio
Publicado 2021

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder

por Philippe, Anne, Craus, Yann, Rio, Marlène, Bahi-Buisson, Nadia, Boddaert, Nathalie, Malan, Valérie, Bonnefont, Jean-Paul, Robel, Laurence
Publicado 2015

Women’s Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome

por Seror, Valerie, L’Haridon, Olivier, Bussières, Laurence, Malan, Valérie, Fries, Nicolas, Vekemans, Michel, Salomon, Laurent J., Ville, Yves
Publicado 2019

22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype

por Ponson, Laura, Gomot, Marie, Blanc, Romuald, Barthelemy, Catherine, Roux, Sylvie, Munnich, Arnold, Romana, Serge, Aguillon-Hernandez, Nadia, Malan, Valérie, Bonnet-Brilhault, Frédérique
Publicado 2018

Author Correction: 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype

por Ponson, Laura, Gomot, Marie, Blanc, Romuald, Barthelemy, Catherine, Roux, Sylvie, Munnich, Arnold, Romana, Serge, Aguillon-Hernandez, Nadia, Malan, Valérie, Bonnet-Brilhault, Frédérique
Publicado 2019

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

por Nicolle, Romain, Altin, Nami, Siquier-Pernet, Karine, Salignac, Sherlina, Blanc, Pierre, Munnich, Arnold, Bole-Feysot, Christine, Malan, Valérie, Caron, Barthélémy, Nitschké, Patrick, Desguerre, Isabelle, Boddaert, Nathalie, Rio, Marlène, Rausell, Antonio, Cantagrel, Vincent
Publicado 2023

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

por Munnich, Arnold, Demily, Caroline, Frugère, Lisa, Duwime, Charlyne, Malan, Valérie, Barcia, Giulia, Vidal, Céline, Throo, Emeline, Besmond, Claude, Hubert, Laurence, Roland-Manuel, Gilles, Malen, Jean-Pierre, Ferreri, Mélanie, Hanein, Sylvain, Thalabard, Jean-Christophe, Boddaert, Nathalie, Assouline, Moïse
Publicado 2019

Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis

por Joosse, Maria E., Charbit-Henrion, Fabienne, Boisgard, Remy, Raatgeep, Rolien (H.) C., Lindenbergh-Kortleve, Dicky J., Costes, Léa M. M., Nugteren, Sandrine, Guegan, Nicolas, Parlato, Marianna, Veenbergen, Sharon, Malan, Valérie, Nowak, Jan K., Hollink, Iris H. I. M., Mearin, M. Luisa, Escher, Johanna C., Cerf-Bensussan, Nadine, Samsom, Janneke N.
Publicado 2021

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

por Dion, Camille, Roche, Stéphane, Laberthonnière, Camille, Broucqsault, Natacha, Mariot, Virginie, Xue, Shifeng, Gurzau, Alexandra D, Nowak, Agnieszka, Gordon, Christopher T, Gaillard, Marie-Cécile, El-Yazidi, Claire, Thomas, Morgane, Schlupp-Robaglia, Andrée, Missirian, Chantal, Malan, Valérie, Ratbi, Liham, Sefiani, Abdelaziz, Wollnik, Bernd, Binetruy, Bernard, Salort Campana, Emmanuelle, Attarian, Shahram, Bernard, Rafaelle, Nguyen, Karine, Amiel, Jeanne, Dumonceaux, Julie, Murphy, James M, Déjardin, Jérôme, Blewitt, Marnie E, Reversade, Bruno, Robin, Jérôme D, Magdinier, Frédérique
Publicado 2019

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

por Uguen, Kévin, Jubin, Claire, Duffourd, Yannis, Bardel, Claire, Malan, Valérie, Dupont, Jean‐Michel, El Khattabi, Laila, Chatron, Nicolas, Vitobello, Antonio, Rollat‐Farnier, Pierre‐Antoine, Baulard, Céline, Lelorch, Marc, Leduc, Aurélie, Tisserant, Emilie, Tran Mau‐Them, Frédéric, Danjean, Vincent, Delepine, Marc, Till, Marianne, Meyer, Vincent, Lyonnet, Stanislas, Mosca‐Boidron, Anne‐laure, Thevenon, Julien, Faivre, Laurence, Thauvin‐Robinet, Christel, Schluth‐Bolard, Caroline, Boland, Anne, Olaso, Robert, Callier, Patrick, Romana, Serge, Deleuze, Jean‐François, Sanlaville, Damien
Publicado 2020