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Brain, ISSN 0006-8950, 12/2017, Volume 140, Issue 12, pp. e73 - e73
Journal Article
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 12/2016, Volume 58, Issue 12, pp. 1317 - 1322
Journal Article
Journal Article
Journal Article
by Hamdan, Fadi F and Myers, Candace T and Cossette, Patrick and Lemay, Philippe and Spiegelman, Dan and Laporte, Alexandre Dionne and Nassif, Christina and Diallo, Ousmane and Monlong, Jean and Cadieux-Dion, Maxime and Dobrzeniecka, Sylvia and Meloche, Caroline and Retterer, Kyle and Cho, Megan T and Rosenfeld, Jill A and Bi, Weimin and Massicotte, Christine and Miguet, Marguerite and Brunga, Ledia and Regan, Brigid M and Mo, Kelly and Tam, Cory and Schneider, Amy and Hollingsworth, Georgie and FitzPatrick, David R and Donaldson, Alan and Canham, Natalie and Blair, Edward and Kerr, Bronwyn and Fry, Andrew E and Thomas, Rhys H and Shelagh, Joss and Hurst, Jane A and Brittain, Helen and Blyth, Moira and Lebel, Robert Roger and Gerkes, Erica H and Davis-Keppen, Laura and Stein, Quinn and Chung, Wendy K and Dorison, Sara J and Benke, Paul J and Fassi, Emily and Corsten-Janssen, Nicole and Kamsteeg, Erik-Jan and Mau-Them, Frederic T and Bruel, Ange-Line and Verloes, Alain and Õunap, Katrin and Wojcik, Monica H and Albert, Dara V.F and Venkateswaran, Sunita and Ware, Tyson and Jones, Dean and Liu, Yu-Chi and Mohammad, Shekeeb S and Bizargity, Peyman and Bacino, Carlos A and Leuzzi, Vincenzo and Martinelli, Simone and Dallapiccola, Bruno and Tartaglia, Marco and Blumkin, Lubov and Wierenga, Klaas J and Purcarin, Gabriela and O’Byrne, James J and Stockler, Sylvia and Lehman, Anna and Keren, Boris and Nougues, Marie-Christine and Mignot, Cyril and Auvin, Stéphane and Nava, Caroline and Hiatt, Susan M and Bebin, Martina and Shao, Yunru and Scaglia, Fernando and Lalani, Seema R and Frye, Richard E and Jarjour, Imad T and Jacques, Stéphanie and Boucher, Renee-Myriam and Riou, Emilie and Srour, Myriam and Carmant, Lionel and Lortie, Anne and Major, Philippe and Diadori, Paola and Dubeau, François and D’Anjou, Guy and Bourque, Guillaume and Berkovic, Samuel F and Sadleir, Lynette G and Campeau, Philippe M and Kibar, Zoha and Lafrenière, Ronald G and Girard, Simon L and Mercimek-Mahmutoglu, Saadet and Boelman, Cyrus and Rouleau, Guy A and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 664 - 685
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2015, Volume 52, Issue 5, pp. 330 - 337
Journal Article
Journal Article
Developmental Medicine and Child Neurology, ISSN 0012-1622, 2016, Volume 58, Issue 12, pp. 1317 - 1322
Inherited aberrancies in intracellular vesicular transport are associated with a variety of neurological and non-neurological diseases. RUSC2 is a gene found... 
VESICULAR TRANSPORT | DISORDERS | PEDIATRICS | PROTEINS | CLINICAL NEUROLOGY | GENES | Microcephaly - genetics | Muscle Hypotonia - genetics | Humans | Male | Intellectual Disability - genetics | Carrier Proteins - genetics | Pedigree | Agenesis of Corpus Callosum - genetics | Adolescent | Epilepsy - genetics | Female | Mutation | Child
Journal Article
by Meyer, E and Carss, K.J and Rankin, J and Nichols, J.M and Grozeva, D and Joseph, A.P and Mencacci, N.E and Papaneou, A and Ng, J and Barral, S and Ngoh, A and Ben-Pazi, H and Willemsen, M.A and Arkadir, D and Barnicoat, A and Bergman, H and Bhate, S and Boys, A and Darin, N and Foulds, N and Gutowski, N and Hills, A and Houlden, H and Hurst, J.A and Israel, Z and Kaminska, M and Limousin, P and Lumsden, D and McKee, S and Misra, S and Mohammed, S.S and Nakou, V and Nicolai, J and Nilsson, M and Pall, H and Peall, K.J and Peters, G.B and Prabhakar, P and Reuter, M.S and Rump, P and Segel, R and Sinnema, M and Smith, M and Turnpenny, P and White, S.M and Wieczorek, D and Wiethoff, S and Wilson, B.T and Winter, G and Wragg, C and Pope, S and Heales, S.J and Morrogh, D and Pittman, A and Carr, L.J and Perez-Duenas, B and Lin, J.P and Reis, A and Gahl, W.A and Toro, C and Bhatia, K.P and Wood, N.W and Kamsteeg, E.J and Chong, W.K and Gissen, P and Topf, M and Dale, R.C and Chubb, J.R and Raymond, F.L and Kurian, M.A and NIHR BioResource Rare and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study and NIHR BioResource Rare Diseases Consortium and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 2, pp. 223 - 237
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2017, Volume 19, Issue 6, pp. 667 - 675
PURPOSE: Copy-number variation is a common source of genomic variation and an important genetic cause of disease. Microarray-based analysis of copy-number... 
read depth | exome sequencing | structural variation | Copy-number variants | diagnostic yield | QT SYNDROME | copy-number variants | SEVERE INTELLECTUAL DISABILITY | DEVELOPMENTAL DELAY | MODEL | POLYMORPHISM | CONGENITAL-ANOMALIES | GENOME | INSERTIONS | GENETICS & HEREDITY | MAP | Original
Journal Article