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Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 435 - 443
Purpose: Genetic testing is an integral diagnostic component of pediatric medicine. Standard of care is often a time-consuming stepwise approach involving... 
diagnostics | copy number variation | next-generation sequencing | noncoding | whole-genome sequencing | SUCCESS | VARIANTS | MENDELIAN DISORDERS | AMERICAN-COLLEGE | MEDICAL GENETICS | IDENTIFICATION | INFANTS | GENETICS & HEREDITY | CAUSE INTELLECTUAL DISABILITY | MUTATIONS | CLINICAL EXOME | Pediatrics | Genes | Genomes | Index Medicus | Original
Journal Article
npj Genomic Medicine, ISSN 2056-7944, 01/2016, Volume 1, Issue 1, pp. 15012 - 15012
The standard of care for first-tier clinical investigation of the aetiology of congenital malformations and neurodevelopmental disorders is chromosome... 
CHROMOSOMAL MICROARRAY | INCIDENTAL FINDINGS | EXOME | PHENOTYPE ONTOLOGY | FUNCTIONAL IMPACT | GENETICS & HEREDITY | MENDELIAN DISORDERS | AMERICAN-COLLEGE | GENETIC-VARIANTS | MUTATIONS | COPY NUMBER VARIANTS
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
by Yuen, Ryan K C and Merico, Daniele and Bookman, Matt and Howe, Jennifer L and Thiruvahinapuram, Bhooma and Patel, Rohan V and Whitney, Joe and Deflaux, Nicole and Bingham, Jonathan and Wang, Zhuozhi and Pellecchia, Giovanna and Buchanan, Janet A and Walker, Susan and Marshall, Christian R and Uddin, Mohammed and Zarrei, Mehdi and Deneault, Eric and D'Abate, Lia and Chan, Ada J S and Koyanagi, Stephanie and Paton, Tara and Pereira, Sergio L and Hoang, Ny and Engchuan, Worrawat and Higginbotham, Edward J and Ho, Karen and Lamoureux, Sylvia and Li, Weili and MacDonald, Jeffrey R and Nalpathamkalam, Thomas and Sung, Wilson W L and Tsoi, Fiona J and Wei, John and Xu, Lizhen and Tasse, Anne Marie and Kirby, Emily and Van Etten, William and Twigger, Simon and Roberts, Wendy and ic, Irene and Jilderda, Sanne and Modi, Bonnie Mackinnon and Kellam, Barbara and Szego, Michael and Cytrynbaum, Cheryl and Weksberg, Rosanna and Zwaigenbaum, Lonnie and Woodbury-Smith, Marc and Brian, Jessica and Senman, Lili and Iaboni, Alana and Doyle-Thomas, Krissy and Thompson, Ann and Chrysler, Christina and Leef, Jonathan and Savion-Lemieux, Tal and Smith, Isabel M and Liu, Xudong and Nicolson, Rob and Seifer, Vicki and Fedele, Angie and Cook, Edwin H and Dager, Stephen and Estes, Annette and Gallagher, Louise and Malow, Beth A and Parr, Jeremy R and Spence, Sarah J and Vorstman, Jacob|info:eu-repo/dai/nl/304817023 and Frey, Brendan J and Robinson, James T and Strug, Lisa J and Fernandez, Bridget A and Elsabbagh, Mayada and Carter, Melissa T and Hallmayer, Joachim and Knoppers, Bartha M and Anagnostou, Evdokia and Szatmari, Peter and Ring, Robert H and Glazer, David and Pletcher, Mathew T and Scherer, Stephen W
Nature Neuroscience, ISSN 1097-6256, 03/2017, Volume 20, Issue 4, pp. 602 - 611
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2013, Volume 161, Issue 1, pp. 13 - 20
Journal Article
by Gillberg, Christopher and Kolevzon, Alexander and Nelson, Stanley F and Sansom, Katherine and Casallo, Guillermo and Miller, Judith and Brennan, Sean and Leboyer, Marion and Bacchelli, Elena and Delorme, Richard and Fombonne, Eric and Hallmayer, Joachim and Green, Jonathan and Pickles, Andrew and Heron, Elizabeth A and Salt, Jeff and Battaglia, Agatino and Klauck, Sabine M and McDougle, Christopher J and Mahoney, William and Noor, Abdul and Cytrynbaum, Cheryl and Sato, Daisuke and Almeida, Joana and Korvatska, Olena and Dawson, Geraldine and Bierut, Laura J and Coon, Hilary and Rickaby, Jessica and Freitag, Christine M and Roeder, Kathryn and Bader, Gary D and Wijsman, Ellen M and Vincent, John B and Hakonarson, Hakon and Segurado, Ricardo and Paton, Tara and Roge, Bernadette and Ennis, Sean and Kim, Cecilia and Monaco, Anthony P and Paterson, Andrew D and Crossett, Andrew and McGrath, Jane and Carson, Andrew R and Le Couteur, Ann and Cook, Edwin H and Chung, Brian H.Y and Cuccaro, Michael L and Van Engeland, Herman and Conroy, Judith and Holt, Richard and Strawbridge, Christina and Kustanovich, Vlad and Migita, Ohsuke and Stoppioni, Vera and Igliozzi, Roberta and Poustka, Fritz and Stein, Olaf and Posey, David J and Sheffield, Val C and Duque, Frederico and Parrini, Barbara and Berney, Tom and Hus, Vanessa and Baird, Gillian and Duketis, Eftichia and Soorya, Latha and Corsello, Christina and Drmic, Irene and Sousa, Inês and Abrahams, Brett S and Thomson, Susanne and Lajonchere, Clara M and Tsiantis, John and Pinto, Dalila and Green, Andrew and Hughes, Gillian and Mantoulan, Carine and Betancur, Catalina and Volkmar, Fred and Poustka, Annemarie and Shah, Naisha and Bryson, Susan E and Munson, Jeff and Tancredi, Raffaella and Nygren, Gudrun and Wittemeyer, Kerstin and Merikangas, Alison and Oliveira, Guiomar and Farrar, Penny and Maestrini, Elena and Liu, Xiao-Qing and Gallagher, Louise and McConachie, Helen and Zurawiecki, Danielle and Schellenberg, Gerard D and Glessner, Joseph T and Lord, Catherine and Piven, Joseph and ... and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Nature, ISSN 0028-0836, 07/2010, Volume 466, Issue 7304, pp. 368 - 372
Journal Article