Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Autor: Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Séverine AUDEBERT-BELLANGER, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noelle Bonnet-Dupeyron, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier-Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean-François Deleuze, Florence Demurger, Anne-Sophie Denommé-Pichon, Christel Depienne, Anne Dieux Coeslier, Christèle Dubourg, Patrick Edery, salima EL CHEHADEH, Laurence Faivre, Mélanie FRADIN, Aurore Garde, David Geneviève, Brigitte Gilbert-Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne-Marie Guerrot, Anne Guimier, Ines HARZALLAH, Delphine Héron, Bertrand Isidor, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaetan Lesca, James Lespinasse, Jonathan Levy, Stanislas Lyonnet, Godelieve Morel, Nolwenn Jean Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent PASQUIER, Laurine Perrin, Florence Petit, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quelin, Sylvia Quemener, Mélanie Rama, Marlène RIO, Massimiliano Rossi, Elise Schaefer, Sophie Rondeau, Pascale SAUGIER-VEBER, Thomas Smol, Sabine Sigaudy, Renaud TOURAINE, Frédéric Tran-Mau-Them, Aurélien Trimouille, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier

Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised hopes to help classif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2c59bc993669dbcd0685342c07953eee
https://doi.org/10.21203/rs.3.rs-2924104/v1

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

Autor: Peter D. Stenson, H. Cuppens, Thierry Bienvenu, Caroline Benech, Philip M. Farrell, Teresa Casals, Taieb Messaoud, Claude Férec, Ourida Loumi, David Neil Cooper, Nadia Chuzhanova, Milan Macek, Sylvia Quemener, Jian-Min Chen, Garry R. Cutting, Karine Giteau, Marie-Pierre Audrézet, Trudi McDevitt

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname

Over the last 20 years since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, more than 1,600 different putatively pathological CFTR mutations have been identified. Until now, however, copy number mutations (CNMs)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b84ad8f81b6caf9b12374f9fe1f19509
https://doi.org/10.1002/humu.21196

Deletion size characterization of der(9) deletions in Philadelphia-positive chronic myeloid leukemia

Autor: Frédéric Morel, Christian Berthou, Marc De Braekeleer, Marie-Josée Le Bris, Nathalie Douet-Guilbert, Patrick Morice, Aurélie Maguer, Sylvia Quemener

Publikováno v: Cancer Genetics and Cytogenetics. 170:89-92

About 95% of the CML patients with chronic myeloid leukemia (CML) have a Philadelphia chromosome resulting from a reciprocal translocation between bands 9q34 and 22q11.2 that juxtaposes the 3' region of the ABL gene to the 5' region of BCR. Over the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc1974fc943eb783dcc669d92c56a8ed
https://doi.org/10.1016/j.cancergencyto.2006.06.006

Balanced transmission of a paternal complex chromosomal rearrangement involving chromosomes 2, 3, and 18

Autor: Sylvia Quemener, M. Collet, Marc De Braekeleer, Huyen Anh Nguyen, Frédéric Morel, Caroline Benech, Claude Férec, Anne-Hélène Saliou, Audrey Basinko, Marie-Josée Le Bris, Philippe Parent, Aurore Perrin, Nathalie Douet-Guilbert

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2010, 152A (10), pp.2646-50. ⟨10.1002/ajmg.a.32982⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e48a400a32bc55909fcad9bfb263654
https://pubmed.ncbi.nlm.nih.gov/20830794

Gene expression profiling in sinonasal adenocarcinoma

Autor: Olivier Malard, Isabelle Guisle-Marsollier, Sylvia Quemener, Karine Renaudin, C. Ferron, Véronique Sébille-Rivain, Dominique Tripodi, Christian Verger, Christian Geraut, Catherine Gratas-Rabbia-Ré

Publikováno v: BMC Medical Genomics
BMC Medical Genomics, 2009, 2 (1), pp.65. ⟨10.1186/1755-8794-2-65⟩
BMC Medical Genomics, BioMed Central, 2009, 2 (1), pp.65. ⟨10.1186/1755-8794-2-65⟩
BMC Medical Genomics, Vol 2, Iss 1, p 65 (2009)

Background Sinonasal adenocarcinomas are uncommon tumors which develop in the ethmoid sinus after exposure to wood dust. Although the etiology of these tumors is well defined, very little is known about their molecular basis and no diagnostic tool ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc67ae9bff0a8019b9eccdd24d8d4406
https://www.hal.inserm.fr/inserm-00663564/file/1755-8794-2-65.pdf