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Human Mutation, ISSN 1059-7794, 09/2016, Volume 37, Issue 9, pp. 847 - 864
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2016, Volume 12, Issue 3, p. e1005894
Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2019, Volume 21, Issue 6, pp. 1308 - 1318
Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic... 
epilepsy | WWOX | encephalopathy | Life Sciences | Genetics | Human genetics
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 02/2019, Volume 21, Issue 7, pp. 1667 - 1671
The article has been corrected to account for one patient being investigated through genome sequencing rather than exome sequencing as originally published;... 
Journal Article
by Schluth-Bolard, Caroline and Diguet, Flavie and Chatron, Nicolas and Rollat-Farnier, Pierre-Antoine and Bardel, Claire and Afenjar, Alexandra and Amblard, Florence and Amiel, Jeanne and Blesson, Sophie and Callier, Patrick and Capri, Yline and Collignon, Patrick and Cordier, Marie-Pierre and Coubes, Christine and Demeer, Benedicte and Chaussenot, Annabelle and Demurger, Florence and Devillard, Françoise and Doco-Fenzy, Martine and Dupont, Céline and Dupont, Jean-Michel and Dupuis-Girod, Sophie and Faivre, Laurence and Gilbert-Dussardier, Brigitte and Guerrot, Anne-Marie and Houlier, Marine and Isidor, Bertrand and Jaillard, Sylvie and Joly-Hélas, Géraldine and Kremer, Valérie and Lacombe, Didier and Le Caignec, Cédric and Lebbar, Aziza and Lebrun, Marine and Lesca, Gaetan and Lespinasse, James and Levy, Jonathan and Malan, Valérie and Mathieu-Dramard, Michele and Masson, Julie and Masurel-Paulet, Alice and Mignot, Cyril and Missirian, Chantal and Morice-Picard, Fanny and Moutton, Sébastien and Nadeau, Gwenaël and Pebrel-Richard, Céline and Odent, Sylvie and Paquis-Flucklinger, Véronique and Pasquier, Laurent and Philip, Nicole and Plutino, Morgane and Pons, Linda and Portnoï, Marie-France and Prieur, Fabienne and Puechberty, Jacques and Putoux, Audrey and Rio, Marlène and Rooryck-Thambo, Caroline and Rossi, Massimiliano and Sarret, Catherine and Satre, Véronique and Siffroi, Jean-Pierre and Till, Marianne and Touraine, Renaud and Toutain, Annick and Toutain, Jérome and Valence, Stéphanie and Verloes, Alain and Whalen, Sandra and Edery, Patrick and Tabet, Anne-Claude and Sanlaville, Damien
Journal of Medical Genetics, ISSN 0022-2593, 08/2019, Volume 56, Issue 8, pp. 526 - 535
BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since... 
whole genome sequencing | structural variation | chromosomal rearrangements | position effect | intellectual disability | RECIPROCAL FUSION TRANSCRIPTS | MICROHOMOLOGY | DE-NOVO | MECHANISM | TRANSLOCATIONS | GENETICS & HEREDITY | DISRUPTIONS | Life Sciences | Genetics | Human genetics
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2081 - 2087
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2016, Volume 24, Issue 8, pp. 1124 - 1131
Journal Article