المؤلفون: Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B, Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J

مؤلفون مشاركون: Care4Rare Canada Consortium, Undiagnosed Diseases Network

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1240. Date of Electronic Publication: 2024 May 14.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Mullegama SV; GeneDx, Gaithersburg, MD 20877, USA; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA. Electronic address: smullegama@genedx.com., Kiernan KA; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA., Torti E; GeneDx, Gaithersburg, MD 20877, USA., Pavlovsky E; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Tilton N; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Sekula A; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Gao H; GeneDx, Gaithersburg, MD 20877, USA., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Engleman K; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA., Rush ET; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA., Blocker K; Division of Clinical Genetics, Stanford Children's Health, San Francisco, CA, USA., Dipple KM; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Fettig VM; Center for Inherited Cardiovascular Disease, Cardiovascular Genetics Program, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Hare H; Northeastern Ontario Medical Genetics Program, Health Sciences, North Sudbury, ON, Canada., Glass I; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Griffin M; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Phornphutkul C; Division of Genetics, Department of Pediatrics, Alpert School of Medicine at Brown University, Providence, RI, USA., Massingham L; Division of Genetics, Department of Pediatrics, Alpert School of Medicine at Brown University, Providence, RI, USA., Mehta L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Miller DE; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Thies J; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Merritt JL 2nd; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Muller E 2nd; Division of Clinical Genetics, Stanford Children's Health, San Francisco, CA, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Sawyer SL; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada., Slaugh R; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Hickey RE; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Anne & Robert H. Lurie Children's Hospital, Chicago, IL, USA., Wolf B; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Anne & Robert H. Lurie Children's Hospital, Chicago, IL, USA., Choudhary S; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Simonović M; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA., Zhang Y; Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX 77555, USA., Palculict TB; GeneDx, Gaithersburg, MD 20877, USA., Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA., Carere DA; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Morrow MM; GeneDx, Gaithersburg, MD 20877, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Yang J; Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX 77555, USA. Electronic address: junyang@utmb.edu., Juusola J; GeneDx, Gaithersburg, MD 20877, USA.

مؤلفون مشاركون: Care4Rare Canada Consortium, Undiagnosed Diseases Network

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 778-790. Date of Electronic Publication: 2024 Mar 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Musculoskeletal Abnormalities*/genetics , Neurodevelopmental Disorders*/genetics, Animals ; Child ; Humans ; Developmental Disabilities/genetics ; Exons ; Mammals/genetics ; Muscle Hypotonia/genetics ; Neuroblastoma/genetics ; Reactive Oxygen Species

المؤلفون: 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.

مؤلفون مشاركون: ELEVIATE Consortium

المصدر: JAMA neurology [JAMA Neurol] 2022 Dec 01; Vol. 79 (12), pp. 1267-1276.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Testing*/methods , Epilepsy*/drug therapy , Epilepsy*/genetics, Humans ; Female ; Infant, Newborn ; Infant ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Male ; Retrospective Studies ; Cross-Sectional Studies ; Seizures/genetics