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
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High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.

Autor: Gustafson JA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.; Molecular and Cellular Biology Program, University of Washington, Seattle, Washington 98195, USA., Gibson SB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA., Damaraju N; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.; Institute for Public Health Genetics, University of Washington, Seattle, Washington 98195, USA., Zalusky MPG; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Hoekzema K; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA., Twesigomwe D; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa., Yang L; Pacific Northwest Research Institute, Seattle, Washington 98122, USA., Snead AA; Department of Biology, New York University, New York, New York 10003, USA., Richmond PA; Alamya Health, Baton Rouge, Louisiana 70806, USA., De Coster W; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2650, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp 2000, Belgium., Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA., Guarracino A; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.; Human Technopole, Milan 20157, Italy., Li Q; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA., Miller AL; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Goffena J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Anderson ZB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Storz SHR; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Ward SA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Sinha M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Mexico City 76230, Mexico., Clarke WE; New York Genome Center, New York, New York 10013, USA.; Outlier Informatics Inc., Saskatoon, Saskatchewan S7H 1L4, Canada., Basile AO; New York Genome Center, New York, New York 10013, USA., Corvelo A; New York Genome Center, New York, New York 10013, USA., Reeves C; New York Genome Center, New York, New York 10013, USA., Helland A; New York Genome Center, New York, New York 10013, USA., Musunuri RL; New York Genome Center, New York, New York 10013, USA., Revsine M; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA., Patterson KE; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA., Paschal CR; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington 98195, USA.; Department of Laboratories, Seattle Children's Hospital, Seattle, Washington 98195, USA., Zakarian C; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA., Goodwin S; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA., Jensen TD; Department of Genetics, Stanford University, Stanford, California 94305, USA., Robb E; Department of Computer Science, Stanford University, Stanford, California 94305, USA., McCombie WR; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Department of Computer Science, Rice University, Houston, Texas 77251, USA., Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA., Montgomery SB; Department of Genetics, Stanford University, Stanford, California 94305, USA., Garrison E; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA., Kolmogorov M; Cancer Data Science Laboratory, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA., Schatz MC; Human Technopole, Milan 20157, Italy., McLaughlin RN Jr; Molecular and Cellular Biology Program, University of Washington, Seattle, Washington 98195, USA.; Pacific Northwest Research Institute, Seattle, Washington 98122, USA., Dashnow H; Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112, USA.; Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA., Zody MC; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Mexico City 76230, Mexico., Loose M; Deep Seq, School of Life Sciences, University of Nottingham, Nottingham NG7 2TQ, UK., Jain M; Department of Bioengineering, Northeastern University, Boston, Massachusetts 02115, USA.; Department of Physics, Northeastern University, Boston, Massachusetts 02115, USA.; Khoury College of Computer Sciences, Northeastern University, Boston, Massachusetts 02115, USA., Eichler EE; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, Washington 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA., Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA; dm1@uw.edu.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, Washington 98195, USA.

Publikováno v: Genome research [Genome Res] 2024 Nov 20; Vol. 34 (11), pp. 2061-2073. Date of Electronic Publication: 2024 Nov 20.

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 DS; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington.; Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan., Burt AA; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington., Ranchalis JE; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington., Wilmot B; Division of Bioinformatics and Computational Biology, Department of Medical Informatics and Clinical Epidemiology, Oregon Health and Science University, Portland, Oregon., Smith JD; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington., Patterson KE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington., Coe BP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington., Li YK; Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan., Bamshad MJ; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington., Nikolas M; Department of Psychology, University of Iowa, Iowa City, Iowa., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington., Swanson JM; Department of Psychiatry, University of California-Irvine, Irvine, California.; Department of Epidemiology, University of California-Irvine, Irvine, California., Nigg JT; Department of Psychiatry, Oregon Health and Science University, Portland, Oregon., Nickerson DA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington., Jarvik GP; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington.

Publikováno v: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2017 Jun; Vol. 174 (4), pp. 381-389. Date of Electronic Publication: 2017 Mar 22.