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