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Autor:
Wilkerson GB; Department of Health & Human Performance, University of Tennessee at Chattanooga, Chattanooga, TN 37403, USA., Fleming LR; Department of Intercollegiate Athletics, Lincoln Memorial University, Harrogate, TN 37752, USA., Adams VP; Sports Medicine Outreach Program, Piedmont Physicians Athens Regional Medical Center, Watkinsville, GA 30677, USA., Petty RJ; Department of Intercollegiate Athletics, University of Tennessee at Chattanooga, Chattanooga, TN 37403, USA., Carlson LM; Department of Health & Human Performance, University of Tennessee at Chattanooga, Chattanooga, TN 37403, USA., Hogg JA; Department of Health & Human Performance, University of Tennessee at Chattanooga, Chattanooga, TN 37403, USA., Acocello SN; Department of Health & Human Performance, University of Tennessee at Chattanooga, Chattanooga, TN 37403, USA.
Publikováno v:
Brain sciences [Brain Sci] 2024 Jan 10; Vol. 14 (1). Date of Electronic Publication: 2024 Jan 10.
Autor:
Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA., Huang SJ; Department of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA., Khan A; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA., Golden-Grant K; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Boyd B; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA., Rosenthal EA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Gillentine MA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA., Fleming LR; Department of Genetics, Saint Luke's Genetics and Metabolic Clinic, Boise, ID 83712, USA., Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA., Wolfe L; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA., Allworth A; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Bamshad MJ; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Caruana NJ; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia., Chanprasert S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Chen J; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA., Dargie N; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Doherty D; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Friederich MW; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Hisama FM; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Horike-Pyne M; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Lee JC; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA., Donovan TE; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia., Leppig KA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Miller DE; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA., Mirzaa G; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA., Ranchalis J; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Raskind WH; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Michel CR; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Reisdorph R; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Schwarze U; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA., Sheppeard S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Strohbehn S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia., Sybert VP; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Wener MH; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.; Department of Rheumatology, University of Washington, Seattle, WA 98195, USA., Stergachis AB; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Lam CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Jarvik GP; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Dipple KM; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Glass IA; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Publikováno v:
Rare (Amsterdam, Netherlands) [Rare] 2024; Vol. 2. Date of Electronic Publication: 2024 Aug 14.
Autor:
Vocke CD; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA., Fleming LR; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Department of Genetics, Saint Luke's Genetics and Metabolic Clinic, Boise, Idaho, USA., Piskorski AM; Department of Pathology, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA., Amin A; Department of Pathology, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA., Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA., de la Monte S; Department of Pathology, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA., Vilboux T; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Duncan F; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Department of Pediatric Emergency Medicine, Johns Hopkins Children's Center, Baltimore, Maryland, USA., Pellegrino J; Medical Genetics, Upstate Medical University, Syracuse, New York, USA., Braddock B; Medical Genetics, Upstate Medical University, Syracuse, New York, USA., Middelton LA; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA., Schmidt LS; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.; Basic Science Program, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA., Merino MJ; Laboratory of Pathology Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA., Cowen EW; Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland, USA., Introne WJ; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Linehan WM; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA., Smith ACM; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Feb; Vol. 191 (2), pp. 490-497. Date of Electronic Publication: 2022 Dec 13.
Autor:
Stenton SL; Institute of Human Genetics, School of Medicine, Technische Universität München, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany., Tesarova M; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Sheremet NL; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases', Moscow, Russia., Catarino CB; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogentica, Bologna, Italy.; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy., Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Curry K; Genetics and Metabolic Clinic, St. Luke's Health System, Boise, USA., Engvall M; Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Stockholm, Sweden., Fleming LR; Genetics and Metabolic Clinic, St. Luke's Health System, Boise, USA., Freisinger P; Department of Paediatrics, Metabolic Disease Center, Klinikum Reutlingen, Reutlingen, Germany., Iwanicka-Pronicka K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Warsaw, Poland., Jurkiewicz E; Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland., Klopstock T; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster of Systems Neurology (SyNergy), Munich, Germany., Koenig MK; Center for the Treatment of Pediatric Neurodegenerative Disease, The University of Texas McGovern Medical School at Houston, Houston, USA., Kolářová H; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Kousal B; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Krylova T; Research Centre for Medical Genetics, Moscow, Russia., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogentica, Bologna, Italy., Nosková L; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Russo SN; Center for the Treatment of Pediatric Neurodegenerative Disease, The University of Texas McGovern Medical School at Houston, Houston, USA., Stránecký V; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Tóthová I; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Träisk F; Department of Neuro-Ophthalmology, St Erik Eye Hospital, Stockholm, Sweden., Prokisch H; Institute of Human Genetics, School of Medicine, Technische Universität München, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.
Publikováno v:
Brain : a journal of neurology [Brain] 2022 Jun 03; Vol. 145 (5), pp. 1624-1631.
Autor:
Dodwell TJ; Institute of Data Science and AI, University of Exeter, Exeter EX4 4QJ, UK.; The Alan Turing Institute, London NW1 2DB, UK., Fleming LR; School of Mathematics, Statistics and Physics, Newcastle University, Newcastle upon Tyne, NE1 7RU, UK., Buchanan C; The Alan Turing Institute, London NW1 2DB, UK.; Department of Civil and Environmental Engineering, Imperial College London, London SW7 2AZ, UK., Kyvelou P; Department of Civil and Environmental Engineering, Imperial College London, London SW7 2AZ, UK., Detommaso G; Amazon Core AI, Berlin, Germany., Gosling PD; School of Engineering, Heidelberg University, Heidelberg 69120, Germany., Scheichl R; Institute of Applied Mathematics, Heidelberg University, Heidelberg 69120, Germany., Kendall WS; Department of Statistics, University of Warwick, Coventry CV4 7AL, UK., Gardner L; The Alan Turing Institute, London NW1 2DB, UK.; Department of Civil and Environmental Engineering, Imperial College London, London SW7 2AZ, UK., Girolami MA; The Alan Turing Institute, London NW1 2DB, UK.; Civil Engineering, University of Cambridge, Cambridge CB2 1PZ, UK., Oates CJ; The Alan Turing Institute, London NW1 2DB, UK.; School of Mathematics, Statistics and Physics, Newcastle University, Newcastle upon Tyne, NE1 7RU, UK.
Publikováno v:
Proceedings. Mathematical, physical, and engineering sciences [Proc Math Phys Eng Sci] 2021 Nov; Vol. 477 (2255), pp. 20210444. Date of Electronic Publication: 2021 Nov 10.
Autor:
Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil., Farazi Fard MA; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Tabatabaei Z; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Habibzadeh P; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Levchenko OA; Research Centre for Medical Genetics, Moscow, Russia., Nikuei P; Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran., Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.; Biomedical Research Foundation Academy of Athens, Athens, Greece., Hussain M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hanover, Germany., Zeinali S; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran., Fallah MS; Department of Medical Genetics, Kawsar Human Genetics Research Center, Tehran, Iran., Schuurs-Hoeijmakers JHM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Shahzad M; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical Research Center, University of Health Sciences, Lahore, Pakistan., Fatima F; Center for Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan., Fatima N; Center for Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan., Kaat LD; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Bruggenwirth HT; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Fleming LR; St. Luke's Children's Genetics and Metabolic Clinic, Boise, ID, USA., Condie J; St Luke's Pediatric Neurology Clinic, Boise, ID, USA., Ploski R; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Pollak A; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Pilch J; Department of Pediatric Neurology, Medical University of Silesia, Katowice, Poland., Demina NA; Research Centre for Medical Genetics, Moscow, Russia., Chukhrova AL; Research Centre for Medical Genetics, Moscow, Russia., Sergeeva VS; Research Centre for Medical Genetics, Moscow, Russia., Venselaar H; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Masri AT; Faculty of Medicine, Pediatric Department Division of Child Neurology, The University of Jordan, Amman, Jordan., Hamamy H; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland., Santoni FA; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.; Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne, Switzerland., Linda K; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Ahmed ZM; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA., Nadif Kasri N; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Bergmann AK; Department of Human Genetics, Hannover Medical School, Hanover, Germany., Hethey S; Department of Neuropediatrics, Children's and Youth Hospital Auf der Bult, Hanover, Germany., Yavarian M; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Ansar M; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland., Riazuddin S; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA., Riazuddin S; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical Research Center, University of Health Sciences, Lahore, Pakistan., Silawi M; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Ruggeri G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Pirozzi F; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Eftekhar E; Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran., Taghipour Sheshdeh A; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Bahramjahan S; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Lavrov AV; Research Centre for Medical Genetics, Moscow, Russia., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Faghihi MA; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran.; Department of Psychiatry & Behavioral Sciences, Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA., van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Hans.vanbokhoven@radboudumc.nl.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jul; Vol. 23 (7), pp. 1246-1254. Date of Electronic Publication: 2021 Apr 06.
Autor:
Ballout RA; Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., Dickerson C; WakeMed Physician Practices, Maternal-Fetal Medicine, Raleigh, North Carolina., Wick MJ; Departments of Obstetrics and Gynecology and Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Al-Sweel N; Department of Pathology, University of Utah, Salt Lake City, Utah.; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah., Openshaw AS; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Swanson LC; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Bramswig NC; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Hong B; Department of Pathology, University of Utah, Salt Lake City, Utah.; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah., Fleming LR; St. Luke's Children's Genetics and Metabolic Clinic, Boise, Idaho., Curry K; St. Luke's Children's Genetics and Metabolic Clinic, Boise, Idaho., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Andersen EF; Department of Pathology, University of Utah, Salt Lake City, Utah.; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, UAE.
Publikováno v:
Human mutation [Hum Mutat] 2020 Jul; Vol. 41 (7), pp. 1238-1249. Date of Electronic Publication: 2020 Mar 12.
Autor:
Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Smith-Hicks CL; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland., Greene C; Department of Pediatrics, University of Maryland Baltimore, Baltimore, Maryland., Abbott MA; Department of Pediatrics, Baystate Medical Center, Springfield, Massachusetts., Siu VM; Division of Medical Genetics, Department of Pediatrics, University of Western Ontario, London, Ontario, Canada., Calhoun ARUL; Division of Medical Genetics, Department of Pediatrics, University of Iowa, Iowa City, Iowa., Pandya A; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Li C; Clinical Genetics Program, McMaster University Medical Center, Hamilton, Ontario, Canada., Sellars EA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Kaylor J; InformedDNA, St. Petersburg, Florida., Bosanko K; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Kalsner L; Departments of Neurology and Pediatrics, Connecticut Children's Medical Center and University of Connecticut Health Center, Farmington, Connecticut., Basinger A; Cook Children's Physician Network, Fort Worth, Texas., Slavotinek AM; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California., Perry H; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California., Saenz M; Children's Hospital Colorado, Aurora, Colorado., Szybowska M; Clinical Genetics Program, McMaster University Medical Center, Hamilton, Ontario, Canada., Wilson LC; Department of Genetics, Great Ormond Street for Children NHS Foundation Trust, London, UK., Kumar A; Department of Genetics, Great Ormond Street for Children NHS Foundation Trust, London, UK., Brain C; Department of Endocrinology, Great Ormond Street for Children NHS Foundation Trust, London, UK., Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Dubbs H; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Ortiz-Gonzalez XR; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Zackai E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Stein Q; Divisions of Pediatric Neurology and Genetics, Sanford Children's Specialty Clinic, Sanford Children's Hospital, Sioux Falls, South Dakota., Powell CM; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Schrier Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Britt A; Division of Medical Genetics, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas., Sun A; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Seattle Children's Hospital, Seattle, Washington., Smith W; Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, Maine., Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama., Picker J; Boston Children's Hospital, Boston, Massachusetts., Kirby A; Division of Medical Genetics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis, Missouri., Pinz H; Division of Medical Genetics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis, Missouri., Bombei H; Division of Medical Genetics, Department of Pediatrics, University of Iowa, Iowa City, Iowa., Mahida S; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland., Cohen JS; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland., Fatemi A; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland., Vernon HJ; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland., McClellan R; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland., Fleming LR; Clinical Genetics and Genomics, St. Luke's Children's Hospital, Boise, Idaho., Knyszek B; Clinical Genetics and Genomics, St. Luke's Children's Hospital, Boise, Idaho., Steinraths M; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Velasco Gonzalez C; Biostatistics Program, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Beck AE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Seattle Children's Hospital, Seattle, Washington., Golden-Grant KL; Seattle Children's Hospital, Seattle, Washington., Egense A; Department of Pediatrics, University of Maryland Baltimore, Baltimore, Maryland., Parikh A; University of Toledo Department of Pediatrics, Toledo, Ohio.; University Hospitals Cleveland Medical Center, Cleveland, Ohio.; Department of Genetics and Genome Sciences Case Western Reserve University School of Medicine, Cleveland, Ohio., Raimondi C; Advocate Children's Hospital, Park Ridge, Illinois., Angle B; Advocate Children's Hospital, Park Ridge, Illinois., Allen W; Fullerton Genetics Center, Asheville, North Carolina., Schott S; Fullerton Genetics Center, Asheville, North Carolina., Algrabli A; FDNA, Inc., Boston, Massachusetts., Robin NH; University of Alabama at Birmingham, Birmingham, Alabama., Ray JW; Division of Medical Genetics, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas., Everman DB; Greenwood Genetic Center, Greenwood, South Carolina., Gambello MJ; Emory University School of Medicine, Atlanta, Georgia., Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, New York.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Apr; Vol. 176 (4), pp. 925-935. Date of Electronic Publication: 2018 Feb 13.
Autor:
Fleming LR; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material ., Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M
Publikováno v:
Clinical journal of the American Society of Nephrology : CJASN [Clin J Am Soc Nephrol] 2017 Dec 07; Vol. 12 (12), pp. 1962-1973. Date of Electronic Publication: 2017 Nov 16.