Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Haldeman-Englert CR"'
Autor:
Schmid CM; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland., Gregor A; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland., Ruiz A; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Manso Bazús C; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Neurosciences, Boystown National Research Hospital, Boystown, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Ammouri F; The University of Kansas Health System, Westwood, KS, USA., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., McNiven V; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Steindl K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Begemann A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Suter AA; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Isidor B; Department of Medical Genetics, CHU Nantes, Nantes, France., Mercier S; Department of Medical Genetics, CHU Nantes, Nantes, France., Nizon M; Department of Medical Genetics, CHU Nantes, Nantes, France., Cogné B; Department of Medical Genetics, CHU Nantes, Nantes, France., Deb W; Department of Medical Genetics, CHU Nantes, Nantes, France., Besnard T; Department of Medical Genetics, CHU Nantes, Nantes, France., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Linden T; University Children's Hospital, Klinikum Oldenburg, Department of Neuropediatrics, Oldenburg, Germany., Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC, USA., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Mattioli F; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Ibrahim N; Lahore College for Women University, Lahore, Pakistan., Naz S; Lahore College for Women University, Lahore, Pakistan., Lacaze E; Department of Medical Genetics, Le Havre Hospital, Le Havre, France., Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Elloumi HZ; GeneDx, Gaithersburg, MD, USA., Person R; GeneDx, Gaithersburg, MD, USA., Zou F; GeneDx, Gaithersburg, MD, USA., Kahle JJ; GeneDx, Gaithersburg, MD, USA., Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany., Schmidt A; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany., Delrue MA; Department of Genetics, Université de Montréal, Sainte-Justine University Hospital, Montreal, Canada., Almeida PM; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal., Ramos F; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Centro de Diagnóstico Pré-natal, Unidade Local de Saúde de Coimbra, Coimbra, Portugal., Srivastava S; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Quinlan A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Robertson S; Department of Pediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand., Manka E; Center for Rare Disease Essen (Essener Zentrum für Seltene Erkrankungen-EZSE), Universitätsmedizin Essen, Essen, Germany., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Spranger S; Praxis für Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada., Elshafie RM; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait., Alsharhan H; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.; Department of Pediatrics, Health science center, College of Medicine, Kuwait University, P.O. Box 24923, Safat, Kuwait., Hillman PR; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA., Dunnington LA; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA., Braakman HMH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center & Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., McKee S; Belfast HSC Trust, Northern Ireland Regional Genetics Service, Belfast, Northern, Ireland., Moresco A; Division of Clinical Genetics, Pediatric Department, Children's Hospital, London Health Sciences Centre, Western University, London, ON, Canada., Ignat AD; Division of Clinical Genetics, Pediatric Department, Children's Hospital, London Health Sciences Centre, Western University, London, ON, Canada., Newbury-Ecob R; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK., Banneau G; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France., Patat O; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France., Kuerbitz J; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Rzucidlo S; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA., Sell SS; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA., Gordon P; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Halleb Y; Le Mans Hospital, Department of Medical Genetics, Le Mans, France., Stoeva R; Le Mans Hospital, Department of Medical Genetics, Le Mans, France., Keren B; Department of Genetics, Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France., Al Masseri Z; Department of Pediatrics, Medical Genetics Unit, Qatif Central Hospital, Eastern Health Cluster, Dammam, Saudi Arabia., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Hammer-Hansen S; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Krüger Sølyst S; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Steigerwald CG; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA., Abreu NJ; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA., Faust H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Müller-Nedebock A; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Tran Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; Génétique des Anomalies Du Développement, INSERM 123, Université de Bourgogne, Dijon, France., Sticht H; Institut für Biochemie, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland. christiane.zweier@insel.ch.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland. christiane.zweier@insel.ch.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Dec 12. Date of Electronic Publication: 2024 Dec 12.
Autor:
McKnight D; Invitae, San Francisco, California., Morales A; Invitae, San Francisco, California., Hatchell KE; Invitae, San Francisco, California., Bristow SL; Invitae, San Francisco, California., Bonkowsky JL; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.; Center for Personalized Medicine, Primary Children's Hospital, Salt Lake City, Utah., Perry MS; Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, Texas., Berg AT; Department of Neurology, Northwestern University-Feinberg School of Medicine, Chicago, Illinois.; COMBINEDBrain, Brentwood, Tennessee., Borlot F; Section of Neurology, Department of Internal Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Esplin ED; Invitae, San Francisco, California., Moretz C; Invitae, San Francisco, California., Angione K; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora., Ríos-Pohl L; Clinical Integral de Epilepsia, Facultad de Medicina, Universidad Finis Terrae, Santiago, Chile., Nussbaum RL; Invitae, San Francisco, California., Aradhya S; Invitae, San Francisco, California., Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, North Carolina., Levy RJ; Division of Medical Genetics, Lucile Packard Children's Hospital at Stanford University, Stanford, California.; Division of Child Neurology, Lucile Packard Children's Hospital at Stanford University, Stanford, California., Parachuri VG; Kaiser Permanente, Portland, Oregon., Lay-Son G; Genetic Unit, Pediatrics Division, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile., de Montellano DJD; Genetics Department, National Institute of Neurology and Neurosurgery, 'Manuel Velasco Suárez,' Mexico City, Mexico., Ramirez-Garcia MA; Genetics Department, National Institute of Neurology and Neurosurgery, 'Manuel Velasco Suárez,' Mexico City, Mexico., Benítez Alonso EO; Genetics Department, National Institute of Neurology and Neurosurgery, 'Manuel Velasco Suárez,' Mexico City, Mexico., Ziobro J; Department of Pediatrics, University of Michigan, Ann Arbor., Chirita-Emandi A; Genetic Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy 'Victor Babes' Timisoara, Timis, Romania.; Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children 'Louis Turcanu' Timisoara, Timis, Romania., Felix TM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Kulasa-Luke D; NeuroDevelopmental Science Center, Akron Children's Hospital, Akron, Ohio., Megarbane A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.; Institut Jerome Lejeune, Paris, France., Karkare S; Cohen Children's Medical Center, Queens, New York., Chagnon SL; Children's Hospital of the King's Daughters, Norfolk, Virginia., Humberson JB; University of Virginia Pediatric Genetics and Metabolism, Charlottesville, Virginia., Assaf MJ; Banner Children's Neurology-Thunderbird, Glendale, Arizona., Silva S; Child Neurology Service, Hospital de Puerto Montt, Puerto Montt, Chile., Zarroli K; University of Florida-Jacksonville, Jacksonville., Boyarchuk O; I.Horbachevsky Ternopil National Medical University, Ternopil, Ukraine., Nelson GR; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Hammond KC; Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham., Hwang ST; Zucker School of Medicine, Hofstra Northwell, Hempstead, New York., Boutlier SB; ECU Physician Internal Medicine Pediatric Neurology, Greenville, North Carolina., Nolan M; Starship Child Health, Auckland, New Zealand., Batley KY; Department of Pediatrics and Neurology, UT Southwestern, Dallas, Texas., Chavda D; SUNY Downstate Health Sciences University, Brooklyn, New York., Reyes-Silva CA; Facultad de Ciencias de la Salud, Universidad de los Hemisferios, Quito, Ecuador., Miroshnikov O; Institute of Pediatrics, Obstetrics and Gynecology, Kyiv, Ukraine., Zuccarelli B; University of Kansas School of Medicine-Salina, Salina., Amlie-Wolf L; Nemours Children's Hospital, Wilmington, Delaware., Wheless JW; Pediatric Neurology, University of Tennessee Health Science Center, Memphis.; Le Bonheur Comprehensive Epilepsy Program & Neuroscience Institute, Le Bonheur Children's Hospital, Memphis, Tennessee., Seinfeld S; Joe DiMaggio Children's Hospital, Hollywood, Florida., Kanhangad M; Department of Paediatrics, Monash University, Clayton, Australia., Freeman JL; The Royal Children's Hospital Melbourne, Melbourne, Australia., Monroy-Santoyo S; Instituto Nacional de Pediatria/Centro Medico ABC, Mexico City, Mexico., Rodriguez-Vazquez N; University of Puerto Rico, Medical Sciences Campus, San Juan, Puerto Rico., Ryan MM; The Royal Children's Hospital Melbourne, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia., Machie M; Department of Pediatrics and Neurology, UT Southwestern, Dallas, Texas., Guerra P; Universidad San Sebastián, Department of Pediatrics, Medicine School, Patagonia Campus, Puerto Montt, Chile., Hassan MJ; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan., Candee MS; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Bupp CP; Spectrum Health, West Michigan Helen DeVos Children's Hospital, Grand Rapids, Michigan., Park KL; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Muller E 2nd; Clinical Genetics, Stanford Children's Health Specialty Services, San Francisco, California., Lupo P; Division of Neurology, Department of Pediatrics, University of Texas Medical Branch, League City., Pedersen RC; Hawaii Permanente Medical Group, Honolulu., Arain AM; Division of Epilepsy, Department of Neurology, University of Utah School of Medicine, Salt Lake City., Murphy A; Mary Bird Perkins Cancer Center, Baton Rouge, Louisiana., Schatz K; Johns Hopkins University, Baltimore, Maryland., Mu W; Johns Hopkins University, Baltimore, Maryland., Kalika PM; University of Miami, Miami, Florida., Plaza L; Hospital Materno Perinatal 'Mónica Pretelini Sáenz,' Toluca, México., Kellogg MA; Oregon Health & Science University, Portland., Lora EG; Dominican Neurological and Neurosurgical Society, Santo Domingo, Dominican Republic., Carson RP; Vanderbilt University Medical Center, Nashville, Tennessee., Svystilnyk V; Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine., Venegas V; Clínica Alemana de Santiago, Universidad del Desarrollo, Pediatric Neurology Unit, Santiago, Chile., Luke RR; Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, Texas., Jiang H; Nationwide Children's Hospital, Toledo, Ohio., Stetsenko T; Brain Stimulation Center, Kyiv, Ukraine., Dueñas-Roque MM; Hospital Nacional Edgardo Rebagliati Martins-EsSalud, Lima, Perú., Trasmonte J; Atrium Health Navicent, Macon, Georgia., Burke RJ; Division of Medical Genetics, Department of Pediatrics, West Virginia University School of Medicine, Morgantown.; Division of Neonatology, Department of Pediatrics, West Virginia University School of Medicine, Morgantown., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham., Smith DM; Minnesota Epilepsy Group, St Paul., Massingham LJ; Hasbro Children's Hospital, Providence, Rhode Island.; Alpert Medical School, Brown University, Providence, Rhode Island., Pisani L; Zucker School of Medicine, Hofstra Northwell, Hempstead, New York.; Northwell Health, Medical Genetics, Great Neck, New York., Costin CE; Genetic Center, Akron Children's Hospital, Akron, Ohio., Ostrander B; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Filloux FM; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Ananth AL; Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham., Mohamed IS; Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham., Nechai A; Neurology Department, Kiev City Children Clinical Hospital No. 1, Kyiv City, Ukraine., Dao JM; Adult and Child Neurology Medical Associates, Long Beach, California.; Miller Children's Hospital, Long Beach, California., Fahey MC; Department of Paediatrics, Monash University, Clayton, Australia., Aliu E; Department of Genetics, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania., Falchek S; Nemours Children's Hospital, Wilmington, Delaware.; Thomas Jefferson University, Philadelphia, Pennsylvania., Press CA; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Treat L; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Eschbach K; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Starks A; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Kammeyer R; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Bear JJ; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Jacobson M; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora., Chernuha V; Pediatric Neurology Institute, 'Dana-Dwek' Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Meibos B; University of Utah, Salt Lake City., Wong K; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Sweney MT; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Espinoza AC; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Van Orman CB; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Weinstock A; Division of Child Neurology, Department of Neurology, University at Buffalo, Buffalo, New York.; Oishei Children's Hospital, Buffalo, New York., Kumar A; Department of Pediatrics and Neurology, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania., Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Nolan DA; Pediatric Epilepsy, Beaumont Children's, Royal Oak, Michigan., Raza M; Nishtar Medical University, Multan, Punjab, Pakistan., Rojas Carrion MD; Alejandro Mann Hospital Complex, Guayaquil, Ecuador., Chari G; SUNY Downstate Health Sciences University, Brooklyn, New York.; Kings County Hospital Center, Brooklyn, New York., Marsh ED; Division of Child Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; University of Pennsylvania Perelman School of Medicine, Philadelphia., Shiloh-Malawsky Y; University of North Carolina at Chapel Hill, Chapel Hill., Parikh S; Neurogenetics, Cleveland Clinic, Cleveland, Ohio., Gonzalez-Giraldo E; University of California-San Francisco, San Francisco., Fulton S; Pediatric Neurology, University of Tennessee Health Science Center, Memphis.; Le Bonheur Comprehensive Epilepsy Program & Neuroscience Institute, Le Bonheur Children's Hospital, Memphis, Tennessee., Sogawa Y; UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania., Burns K; Sanford Health, Sioux Falls, South Dakota., Malets M; Uzhhorod National University, Uzhhorod, Ukraine., Montiel Blanco JD; National Institute of Child Health, Lima, Perú., Habela CW; Johns Hopkins University, Baltimore, Maryland., Wilson CA; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City., Guzmán GG; Servicio Neuropsiquiatria Infantil, Hospital San Borja Arriarán, Santiago, Chile., Pavliuk M; Volyn Regional Hospital, Lutsk, Ukraine.
Publikováno v:
JAMA neurology [JAMA Neurol] 2022 Dec 01; Vol. 79 (12), pp. 1267-1276.
Autor:
Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: lesb@mail.nih.gov., Adam MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA., Alkuraya FS; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Amemiya AR; Computercraft Corporation, McLean, VA 20005, USA., Bamshad MJ; Department of Pediatrics and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA., Beck AE; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98015, USA., Bennett JT; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute and Division Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA., Bird LM; Department of Pediatrics, University of California San Diego, San Diego 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Carey JC; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA., Chung B; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, China., Clark RD; Loma Linda University School of Medicine, Department of Pediatrics, Division of Medical Genetics, Loma Linda, CA 92354, USA., Cox TC; Department of Oral and Craniofacial Sciences, School of Dentistry and Department of Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA., Curry C; Genetic Medicine, Department of Pediatrics, University of California, Fresno, Fresno, CA 93701, USA., Dinulos MBP; The Geisel School of Medicine at Dartmouth, Department of Pediatrics, Section of Genetics and Child Development, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, USA., Dobyns WB; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA., Giampietro PF; University of Illinois College of Medicine, Chicago, IL 60612, USA., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Glass IA; Department of Pediatrics and Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA., Graham JM Jr; Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA., Gripp KW; Division of Medical Genetics, Department of Pediatrics, AI DuPont Hospital for Children/Nemours, Wilmington, DE 19803, USA., Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC 28803, USA., Hall BD; Greenwood Genetic Center, Greenwood, SC 29646, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada., Kalish JM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Departments of Pediatrics and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Keppler-Noreuil KM; Division of Genetics, Children's National Medical Center, Washington, DC 20010, USA., Kosaki K; Keio University School of Medicine, Tokyo 160-8582, Japan., Kozel BA; Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Mirzaa GM; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA., Mulvihill JJ; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; National Human Genome Research Institute, Bethesda, MD 20892, USA., Nowaczyk MJM; Molecular Medicine & Pathology and Pediatrics, McMaster University, Hamilton, ON L8S 3K9, Canada., Pagon RA; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA., Retterer K; GeneDx, Gaithersburg, MD 20877, USA., Rope AF; Genome Medical, South San Francisco, CA 94080, USA., Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90048, USA., Seaver LH; Spectrum Health Medical Genetics and Genomics/Helen Devos Children's Hospital, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI 49503, USA., Shieh JT; Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA., Slavotinek AM; Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA., Sobering AK; Augusta University/University of Georgia Athens, Medical Partnership, Athens, GA 30606, USA., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA., Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA 94305, USA., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Tsai AC; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, Indianapolis, IN 46202, USA., Williams MS; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Zackai E; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA 19104, USA., Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1809-1810.
Autor:
Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain., Boerrigter MM; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands., Gómez-Andrés D; Child Neurology Unit. Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Marcos-Alcalde Í; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain.; Bioscience Research Institute, School of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, Spain., Popp B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Everman DB; Greenwood Genetic Center, Greenwood, SC, USA., Lovgren AK; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Arpin S; Service de génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France., Bahrambeigi V; Greenwood Genetic Center, Greenwood, SC, USA.; Graduate School of Biomedical Sciences, The University of Texas, MD Anderson Cancer Center UTHealth, Houston, TX, USA., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Bisgaard AM; Center for Rett syndrome, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark., Bjerregaard VA; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Bruel AL; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Challman TD; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA., Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Coubes C; Département de Génétique Médicale, Maladies rares et Médecine personnalisée, CHU Montpellier, France., de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands., Denommé-Pichon AS; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Dye TJ; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Elmslie F; South West Thames Regional Genetics Service, St George's University Hospitals, University of London, London, United Kingdom., Feuk L; Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Gertler T; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Giorgio E; Department of Medical Sciences, University of Turin, Torino, Italy., Gruchy N; Service de Génétique, CHU Caen Clemenceau, Biotargen, Univ Caen, France., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC, USA., Haukanes BI; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Soller MJ; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kushary S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Kvarnung M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Landau YE; Leumit Health Care Services, Tel-Aviv, Israel.; Metabolic Disease Service, Schneider Children's Medical Center of Israel, Tel-Aviv, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Leppig KA; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA., Lindstrand A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kleinendorst L; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., MacKenzie A; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada., Mandrile G; Thalassemia Centre and Genetic Unit, San Luigi University Hospital, Orbassano, Italy., Mendelsohn BA; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA, USA., Moghadasi S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Morton JE; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham Women's Hospital, Birmingham, United Kingdom., Moutton S; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France., Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., O'Leary M; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pacio-Míguez M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Parikh S; Mitochondrial Medicine & Neurogenetics, Cleveland Clinic, Cleveland, OH, USA., Pfundt R; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel., Pode-Shakked B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Repnikova E; Division of Clinical Laboratory Genetics & Genomics, Children's Mercy Hospital, Kansas City, MO, USA., Revah-Politi A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NY, USA., Ross MJ; Department of Pediatrics, Columbia University Medical Center, NewYork-Presbyterian Hospital, New York, NY, USA., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Sarrazin E; Centre de Référence des Maladies rares neuromusculaires AOC, Hôpital Pierre Zobda Quitman, CHU Martinique, Fort de France, Martinique., Savatt JM; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain., Schönewolf-Greulich B; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Shad Z; Cook Children's Medical Center Genetics, Fort Worth, TX, USA., Shaw-Smith C; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Shohat M; Bioinformatics unit, Cancer Research Center, Sheba Medical Center and Sackler Medical Center, Tel Aviv University and Maccabi HMO, Tel Aviv, Israel., Spranger S; Praxis fuer Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany., Thiese H; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA., Mau-Them FT; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van de Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., van Drie E; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Haelst MM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Ravenswaaij-Arts CM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain., Vitobello A; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Whiting S; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Prada CE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Reiter SF; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Gómez-Puertas P; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May; Vol. 23 (5), pp. 888-899. Date of Electronic Publication: 2021 Feb 17.
Autor:
Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: lesb@mail.nih.gov., Adam MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Amemiya AR; Computercraft Corporation, McLean, VA 20005, USA., Bamshad MJ; Department of Pediatrics and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA., Beck AE; Pediatric Genetic Medicine Service, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98015, USA., Bennett JT; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute and Division Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA., Bird LM; Department of Pediatrics, University of California San Diego, San Diego 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Carey JC; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA., Chung B; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, China., Clark RD; Loma Linda University School of Medicine, Department of Pediatrics, Division of Medical Genetics, Loma Linda, CA 92354, USA., Cox TC; Department of Oral and Craniofacial Sciences, School of Dentistry and Department of Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA., Curry C; Genetic Medicine, Department of Pediatrics, University of California, Fresno, Fresno, CA 93701, USA., Dinulos MBP; The Geisel School of Medicine at Dartmouth, Department of Pediatrics, Section of Genetics and Child Development, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, USA., Dobyns WB; Division of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA., Giampietro PF; Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901, USA., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Glass IA; Department of Pediatrics and Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA., Graham JM Jr; Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA., Gripp KW; Division of Medical Genetics, Department of Pediatrics, AI DuPont Hospital for Children/Nemours, Wilmington, DE 19803, USA., Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC 28803, USA., Hall BD; Greenwood Genetic Center, Greenwood, SC 29646, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada., Kalish JM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Departments of Pediatrics and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Keppler-Noreuil KM; Division of Genetics, Children's National Medical Center, Washington, DC 20010, USA., Kosaki K; Keio University School of Medicine, Tokyo 160-8582, Japan., Kozel BA; Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Mirzaa GM; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA., Mulvihill JJ; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; National Human Genome Research Institute, Bethesda, MD 20892, USA., Nowaczyk MJM; Molecular Medicine & Pathology and Pediatrics, McMaster University, Hamilton, ON L8S 3K9, Canada., Pagon RA; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA., Retterer K; GeneDx, Gaithersburg, MD 20877, USA., Rope AF; Genome Medical, South San Francisco, CA 94080, USA., Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90048, USA., Seaver LH; Spectrum Health Medical Genetics and Genomics/Helen Devos Children's Hospital, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI 49503, USA., Shieh JT; Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA., Slavotinek AM; Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA., Sobering AK; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA., Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA 94305, USA., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Tsai AC; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, Indianapolis, IN 46202, USA., Williams MS; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Zackai E; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA 19104, USA., Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Jan 07; Vol. 108 (1), pp. 8-15.
Publikováno v:
Ophthalmic surgery, lasers & imaging retina [Ophthalmic Surg Lasers Imaging Retina] 2016 Feb; Vol. 47 (2), pp. 183-6.
Autor:
Tuz K; Center for Neuropharmacology and Neuroscience, Albany Medical College, Albany, NY 12208, USA., Bachmann-Gagescu R; Institute of Molecular Life Sciences, University of Zurich, 8057 Zurich, Switzerland; Institute of Medical Genetics, University of Zurich, 8603 Zurich, Switzerland., O'Day DR; Divisions of Genetic Medicine and Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Hua K; Center for Neuropharmacology and Neuroscience, Albany Medical College, Albany, NY 12208, USA., Isabella CR; Divisions of Genetic Medicine and Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Phelps IG; Divisions of Genetic Medicine and Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Stolarski AE; Center for Neuropharmacology and Neuroscience, Albany Medical College, Albany, NY 12208, USA., O'Roak BJ; Department of Molecular & Medical Genetics, Oregon Health Sciences University, Portland, OR 97239, USA., Dempsey JC; Divisions of Genetic Medicine and Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Lourenco C; Neurogenetics Division, Clinics Hospital, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo 14049-900, Brazil., Alswaid A; Department of Pediatrics, King Abdulaziz Medical City, Riyadh 11426, Saudi Arabia., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, John Edward Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA., Medne L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, AIMS Ponekkara Post Office, Kochi, Kerala 682041, India., Stark Z; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, VIC 3052, Australia., Leventer RJ; Departments of Neurology and Pediatrics, Murdoch Childrens Research Institute, Royal Children's Hospital and University of Melbourne, Parkville, VIC 3052, Australia., Topçu M; Department of Child Neurology, Hacettepe University Medical Faculty, Ihsan Dogramacı Children's Hospital, Ankara 06100, Turkey., Cansu A; Pediatric Neurology Unit, De Karadeniz Technical University, Trabzon 61080, Turkey., Jagadeesh S; MediScan Systems, Mylapore, Chennai 600 004, India., Done S; Department of Radiology, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Ishak GE; Department of Radiology, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Glass IA; Divisions of Genetic Medicine and Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Hospital Research Institute, Seattle, WA 98105, USA., Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Neuhauss SC; Institute of Molecular Life Sciences, University of Zurich, 8057 Zurich, Switzerland., Haldeman-Englert CR; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA., Doherty D; Divisions of Genetic Medicine and Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Hospital Research Institute, Seattle, WA 98105, USA. Electronic address: ddoher@uw.edu., Ferland RJ; Center for Neuropharmacology and Neuroscience, Albany Medical College, Albany, NY 12208, USA; Department of Neurology, Albany Medical College, Albany, NY 12208, USA. Electronic address: ferlanr@mail.amc.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2014 Jan 02; Vol. 94 (1), pp. 62-72. Date of Electronic Publication: 2013 Dec 19.
Autor:
Mark PR; Department of Medical Genetics, Spectrum Health, Grand Rapids, MI 49503, USA. paul.mark@spectrumhealth.org, Radlinski BC, Core N, Fryer A, Kirk EP, Haldeman-Englert CR
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2013 May; Vol. 161A (5), pp. 1117-21. Date of Electronic Publication: 2013 Mar 13.
Autor:
Delio M; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA., Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2013 Mar; Vol. 161A (3), pp. 527-33. Date of Electronic Publication: 2013 Feb 07.
Autor:
Kuppler KM; Wake Forest School of Medicine, Winston-Salem, North Carolina 27157, USA., Kirse DJ, Thompson JT, Haldeman-Englert CR
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2012 May; Vol. 158A (5), pp. 1212-5. Date of Electronic Publication: 2012 Apr 09.