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Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3136 - 3142
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2017, Volume 173, Issue 1, pp. 62 - 71
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2017, Volume 19, Issue 9, pp. 989 - 997
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2017, Volume 54, Issue 7, pp. 479 - 488
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 10/2019, Volume 27, Issue 10, pp. 1519 - 1531
In clinical exome sequencing (cES), the American College of Medical Genetics and Genomics recommends limiting variant interpretation to established... 
INTELLECTUAL DISABILITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | TBR1 | SPECTRUM | EPILEPTIC ENCEPHALOPATHY | TRUNCATING MUTATIONS | ONSET | PREDICTION | Phenotypes | Disease | Congenital defects | Genomics
Journal Article
Journal Article
by Mignot, Cyril and McMahon, Aoife C and Bar, Claire and Campeau, Philippe M and Davidson, Claire and Buratti, Julien and Nava, Caroline and Jacquemont, Marie-Line and Tallot, Marilyn and Milh, Mathieu and Edery, Patrick and Marzin, Pauline and Barcia, Giulia and Barnerias, Christine and Besmond, Claude and Bienvenu, Thierry and Bruel, Ange-Line and Brunga, Ledia and Ceulemans, Berten and Coubes, Christine and Cristancho, Ana G and Cunningham, Fiona and Dehouck, Marie-Bertille and Donner, Elizabeth J and Duban-Bedu, Bénédicte and Dubourg, Christèle and Gardella, Elena and Gauthier, Julie and Geneviève, David and Gobin-Limballe, Stéphanie and Goldberg, Ethan M and Hagebeuk, Eveline and Hamdan, Fadi F and Hančárová, Miroslava and Hubert, Laurence and Ioos, Christine and Ichikawa, Shoji and Janssens, Sana and Journel, Hubert and Kaminska, Anna and Keren, Boris and Koopmans, Marije and Lacoste, Caroline and Laššuthová, Petra and Lederer, Damien and Lehalle, Daphné and Marjanovic, gan and Métreau, Julia and Michaud, Jacques L and Miller, Kathryn and Minassian, Berge A and Morales, Joannella and Moutard, Marie-Laure and Munnich, Arnold and Ortiz-Gonzalez, Xilma R and Pinard, Jean-Marc and Prchalová, Darina and Putoux, Auey and Quelin, Chloé and Rosen, Alyssa R and Roume, Joelle and Rossignol, Elsa and Simon, Marleen E H and Smol, Thomas and Shur, Natasha and Shelihan, Ivan and Štěrbová, Katalin and Vyhnálková, Emílie and Vilain, Catheline and Soblet, Julie and Smits, Guillaume and Yang, Samuel P and van der Smagt, Jasper J and van Hasselt, Peter M and van Kempen, Marjan and Weckhuysen, Sarah and Helbig, Ingo and Villard, Laurent and Héron, Delphine and Koeleman, Bobby and Møller, Rikke S and Lesca, Gaetan and Helbig, Katherine L and Nabbout, Rima and Verbeek, Nienke E and Depienne, Christel
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 837 - 849
Journal Article