SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.

Autor: Stefanski A; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA., Pérez-Palma E; Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago de Chile 7610658, Chile., Brünger T; Cologne Center for Genomics (CCG), Medical Faculty of the University of Cologne, University Hospital of Cologne, Cologne 50931, Germany., Montanucci L; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA., Gati C; Department of Biological Sciences, Bridge Institute, USC Michelson Center for Convergent Bioscience, University of Southern California, Los Angeles, CA 90089, USA., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany., Johannesen KM; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshispitalet, Copenhagen 2100, Denmark., Goodspeed K; Children's Health, Medical Center, Dallas, TX 75235, USA.; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Macnee M; Cologne Center for Genomics (CCG), Medical Faculty of the University of Cologne, University Hospital of Cologne, Cologne 50931, Germany., Deng AT; Clinical Genetics, Guys and St Thomas NHS Trust, London SE19RT, UK., Aledo-Serrano Á; Epilepsy Program, Neurology Department, Hospital Ruber Internacional, Madrid 28034, Spain., Borovikov A; Research and Counseling Department, Research Centre for Medical Genetics, Moscow 115478, Russia., Kava M; Department of Neurology and Metabolic Medicine, Perth Children's Hospital, Perth 6009, Australia.; School of Paediatrics and Child Health, UWA Medical School, University of Western Australia, Perth 6009, Australia., Bouman AM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam 3015GD, The Netherlands., Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics and Genomics, Albany Medical College, Albany Med Health System, Albany, NY 12208, USA., Pal DK; Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology and Neuroscience, King's College, London SE58AF, UK.; Department of Basic and Clinical Neurosciences, King's College Hospital, London SE59RS, UK., Engelen M; Department of Pediatric Neurology, Amsterdam Public Health, Amsterdam University Medical Center, Amsterdam 1081HV, The Netherlands., Hagebeuk EEO; Department of Pediatric Neurology, Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede and Zwolle 2103SW, The Netherlands., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, St.Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO 63110, USA., Heidlebaugh AR; Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17837, USA., Oetjens K; Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17837, USA., Hoffman TL; Department of Regional Genetics, Anaheim, Southern California Kaiser Permanente Medical Group, CA 92806, USA., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa 16132, Italy., Freed AS; Department of Clinical Science, Kaiser Permanente Bernard J. Tyson School of Medicine, Pasadena, CA 91101, USA., Futtrup L; Department of Paediatrics, Regional Hospital of Central Jutland, Viborg 8800, Denmark., Balslev T; Department of Paediatrics, Regional Hospital of Central Jutland, Viborg 8800, Denmark.; Centre for Educational Development, Aarhus University, Aarhus 8200, Denmark., Abulí A; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d'Hebron, Barcelona 08035, Spain., Danvoye L; Department of Neurology, Université catholique de Louvain, Cliniques universitaires Saint-Luc, Brussels 1200, Belgium., Lederer D; Centre for Human Genetics, Institute for Pathology and Genetics, Gosselies 6041, Belgium., Balci T; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A3K7, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON N6A5A5, Canada., Nouri MN; Department of Paediatrics, Division of Pediatric Neurology, London Health Sciences Centre, London, ON N6A5W9, Canada., Butler E; GeneDx, Gaithersburg, MD 20877, USA., Drewes S; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., van Engelen K; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A5W9, Canada., Howell KB; Department of Neurology, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Khoury J; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA., May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette 4362, Luxembourg., Trinidad M; Translational Genomics, BioMarin Pharmaceutical Inc., Novato, CA 94949, USA., Froelich S; Translational Genomics, BioMarin Pharmaceutical Inc., Novato, CA 94949, USA., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig 04103, Germany., Tiller J; SLC6A1 Connect, Frisco, TX 75034, USA., Freed AN; SLC6A1 Connect, Frisco, TX 75034, USA., Kang JQ; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37240, USA.; Neuroscience Graduate Program, Vanderbilt University, Nashville, TN 37235, USA.; Department of Neurology, Vanderbilt Brain Institute, Nashville, TN 37235, USA.; Department of Pharmacology, Vanderbilt University, Nashville, TN 37232, USA.; Vanderbilt Kennedy Center of Human Development, Nashville, TN 37203, USA., Wuster A; Translational Genomics, BioMarin Pharmaceutical Inc., Novato, CA 94949, USA., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5000, Denmark., Lal D; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.; Stanley Center of Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Neurology, University of Texas Health Sciences Center at Houston, Houston, TX 77030, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 5198-5208.

Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses.

Autor: Wain KE; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA., Tolwinski K; Biomedical Ethics Unit, McGill University, Montreal, QC H3A 1X1, Canada., Palen E; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA., Heidlebaugh AR; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA., Holdren K; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA., Walsh LK; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA., Oetjens MT; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA., Ledbetter DH; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA., Martin CL; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.

Publikováno v: Journal of personalized medicine [J Pers Med] 2021 May 01; Vol. 11 (5). Date of Electronic Publication: 2021 May 01.

Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.

Autor: Sapp JC; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA., Johnston JJ; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA., Driscoll K; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA., Heidlebaugh AR; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA., Miren Sagardia A; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA., Dogbe DN; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA., Umstead KL; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA., Turbitt E; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA., Alevizos I; National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA., Baron J; Section on Growth Development, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA., Bönnemann C; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, Bethesda, MD 20892, USA., Brooks B; Office of the Clinical Director, National Eye Institute, Bethesda, MD 20892, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, Bethesda, MD 20892, USA., Jee YH; Section on Growth Development, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA., Linehan WM; Urologic Oncology Branch, National Cancer Institute, Bethesda, MD 20892, USA., McMahon FJ; Human Genetics Branch, National Institutes of Mental Health, Bethesda, MD 20892, USA., Moss J; Laboratory of Translational Research, National Heart, Lung, and Blood Institute, Bethesda, MD 20892, USA., Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, Bethesda, MD 20892, USA., Nielsen D; Urologic Oncology Branch, National Cancer Institute, Bethesda, MD 20892, USA., Pelayo E; National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA., Remaley AT; Lipoprotein Metabolism Laboratory, National Heart, Lung, and Blood Institute, Bethesda, MD 20892, USA., Siegel R; Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA., Su H; Human Immunological Diseases Section, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA., Zarate C; Human Genetics Branch, National Institutes of Mental Health, Bethesda, MD 20892, USA., Manolio TA; Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD 20892, USA., Biesecker BB; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA., Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA. Electronic address: lesb@mail.nih.gov.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2018 Sep 06; Vol. 103 (3), pp. 358-366. Date of Electronic Publication: 2018 Aug 16.

A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study.

Autor: Turbitt E; Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, MD, USA., Chrysostomou PP; Reproductive and Adult Endocrinology, National Institute of Child Health and Human Development, National Institutes Health, Bethesda, MD, USA., Peay HL; RTI International, Chapel Hill, NC, USA., Heidlebaugh AR; Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, MD, USA., Nelson LM; Reproductive and Adult Endocrinology, National Institute of Child Health and Human Development, National Institutes Health, Bethesda, MD, USA., Biesecker BB; Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, MD, USA. bbiesecker@rti.org.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2018 May; Vol. 26 (5), pp. 622-630. Date of Electronic Publication: 2018 Feb 16.

CHD8 -Related Neurodevelopmental Disorder with Overgrowth

Autor: Mitchel MW; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, Myers SM; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, Heidlebaugh AR; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, Taylor CM; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, Rea H; University of Washington, Seattle, Washington, Neuhaus E; University of Washington, Seattle, Washington, Kurtz-Nelson EC; University of Washington, Seattle, Washington, Earl R; University of Washington, Seattle, Washington, Bernier R; University of Washington, Seattle, Washington, Ledbetter DH; Department of Psychiatry, University of Florida, Gainesville, Florida, Martin CL; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, Eichler EE; University of Washington;, Howard Hughes Medical Institute, Seattle, Washington

Publikováno v: 1993.