Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

Autor: Chong, Jessica X., Yu, Joon-Ho, Lorentzen, Peter, Park, Karen M., Jamal, Seema M., Tabor, Holly K., Rauch, Anita, Saenz, Margarita Sifuentes, Boltshauser, Eugen, Patterson, Karynne E., Nickerson, Deborah A., Bamshad, Michael J.

Publikováno v: In Genetics in Medicine August 2016 18(8):788-795

Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder

Autor: Kim, Daniel Seung, Burt, Amber A, Ranchalis, Jane E, Wilmot, Beth, Smith, Joshua D, Patterson, Karynne E, Coe, Bradley P, Li, Yatong K, Bamshad, Michael J, Nikolas, Molly, Eichler, Evan E, Swanson, James M, Nigg, Joel T, Nickerson, Deborah A, Jarvik, Gail P, University of Washington Center for Mendelian Genomics

Publikováno v: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, vol 174, iss 4

Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::48ecc397c5700487bba97d0dd6242686
https://escholarship.org/uc/item/2n86p1gt

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Biocomputing 2018 - Proceedings Of The Pacific Symposium

Autor: Russ B Altman, A Keith Dunker, Lawrence Hunter, Marylyn D Ritchie, Tiffany A Murray, Teri E Klein

The Pacific Symposium on Biocomputing (PSB) 2018 is an international, multidisciplinary conference for the presentation and discussion of current research in the theory and application of computational methods in problems of biological significance.