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Journal Article
by Lek, Monkol and Karczewski, Konrad J and Minikel, Eric V and Samocha, Kaitlin E and Banks, Eric and Fennell, Timothy and O'Donnell-Luria, Anne H and Ware, James S and Hill, Andrew J and Cummings, Beryl B and Tukiainen, Taru and Birnbaum, Daniel P and Kosmicki, Jack A and Duncan, Laramie E and Estrada, Karol and Zhao, Fengmei and Zou, James and Pierce-Hoffman, Emma and Berghout, Joanne and Cooper, David N and Deflaux, Nicole and DePristo, Mark and Do, Ron and Flannick, Jason and Fromer, Menachem and Gauthier, Laura and Goldstein, Jackie and Gupta, Namrata and Howrigan, Daniel and Kiezun, Adam and Kurki, Mitja I and Moonshine, Ami Levy and Natarajan, Pradeep and Orozco, Lorena and Peloso, Gina M and Poplin, Ryan and Rivas, Manuel A and Ruano-Rubio, Valentin and Rose, Samuel A and Ruderfer, Douglas M and Shakir, Khalid and Stenson, Peter D and Stevens, Christine and Thomas, Brett P and Tiao, Grace and Tusie-Luna, Maria T and Weisburd, Ben and Won, Hong-Hee and Yu, Dongmei and Altshuler, David M and Ardissino, Diego and Boehnke, Michael and Danesh, John and Donnelly, Stacey and Elosua, Roberto and Florez, Jose C and Gabriel, Stacey B and Getz, Gad and Glatt, Stephen J and Hultman, Christina M and Kathiresan, Sekar and Laakso, Markku and McCarroll, Steven and McCarthy, Mark I and McGovern, Dermot and McPherson, Ruth and Neale, Benjamin M and Palotie, Aarno and Purcell, Shaun M and Saleheen, Danish and Scharf, Jeremiah M and Sklar, Pamela and Sullivan, Patrick F and Tuomilehto, Jaakko and Tsuang, Ming T and Watkins, Hugh C and Wilson, James G and Daly, Mark J and MacArthur, Daniel G and Exome Aggregation Consortium
ISSN 0028-0836, 2016
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 05/2018, Volume 71, Issue 20, pp. 2293 - 2302
Journal Article
Journal Article
Journal of Cardiovascular Electrophysiology, ISSN 1045-3873, 01/2018, Volume 29, Issue 1, pp. 98 - 104
Journal Article
ANNALS OF CLINICAL AND LABORATORY SCIENCE, ISSN 0091-7370, 07/2017, Volume 47, Issue 4, pp. 481 - 490
Journal Article
Nature, ISSN 0028-0836, 2016, Volume 536, Issue 7616, pp. 285 - 291
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe... 
HUMAN-DISEASE | EVOLUTION | MULTIDISCIPLINARY SCIENCES | MUTATION | GUIDELINES | FRAMEWORK | SEQUENCE VARIANTS | NETWORKS | DISCOVERY | HUMAN-POPULATION HISTORY | Genetic aspects | Research | Man | Human beings | Genetic variation | Analysis | Datasets | Proteins | Disease | Genes | Principal components analysis | Genetics | Genomes | Data bases
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 09/2017, Volume 5, Issue 5, pp. 495 - 507
Background Syntaxin‐binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane.... 
protein structure | Exome Aggregation Consortium | genomics | syntaxin‐binding protein 1 | Munc18 | Epilepsy | syntaxin-binding protein 1 | RETT-SYNDROME | PLASMA-MEMBRANE | INFANTILE EPILEPTIC ENCEPHALOPATHY | INTELLECTUAL DISABILITY | GENETIC-VARIATION | DE-NOVO MUTATIONS | SNARE COMPLEX | OHTAHARA SYNDROME | GENETICS & HEREDITY | N-PEPTIDE | MUNC18-1 DOMAIN 3A
Journal Article
ISSN 2324-9269, 2018
Background: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane.... 
epilepsy | protein structure | Exome Aggregation Consortium | genomics | Munc18 | syntaxin-binding protein 1
Journal Article