35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

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Bibliographic Details
Title: 35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.
Authors: Li MH; Division of Genetics, Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA., Coleman DL; Department of Pediatrics, Department of Pharmacology, University of Washington School of Medicine, Seattle, Washington, USA.; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Hogan K; Division of Genetics, Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA., Luz D; Division of Genetics, Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA., Bhandari L; Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Belnap N; Neurogenomics Division, Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA., Busa T; Department of Medical Genetics, Timone Children's Hospital, AP-HM, Marseille, France., Coutton C; University Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Institut for Advanced Biosciences, Grenoble, France., Dieterich K; University Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Institut for Advanced Biosciences, Grenoble, France., Gorokhova S; Department of Medical Genetics, Timone Children's Hospital, AP-HM, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U 1251, Marseille, France., Hildebrandt C; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina, Chapel Hill, Chapel Hill, North Carolina, USA., Logan R; Division of Neurosciences, Children's Healthcare of Atlanta, Atlanta, Georgia, USA., Mariani M; Department of Pediatrics, ASST Lariana Sant'anna Hospital, Como, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Pappas J; Department of Pediatrics, Clinical Genetics Services, New York University Grossman School of Medicine, New York, New York, USA., Rabin R; Department of Pediatrics, Clinical Genetics Services, New York University Grossman School of Medicine, New York, New York, USA., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA., Selicorni A; Department of Pediatrics, ASST Lariana Sant'anna Hospital, Como, Italy., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA., Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA., Sullivan J; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA., Tardy C; Department of Medical Genetics, Timone Children's Hospital, AP-HM, Marseille, France., Vergano SAS; Department of Pediatrics, Eastern Virginia Medical School, Children's Hospital of the King's Daughters, Norfolk, Virginia, USA., Grill B; Department of Pediatrics, Department of Pharmacology, University of Washington School of Medicine, Seattle, Washington, USA.; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Baranano K; Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr 13. Date of Electronic Publication: 2026 Apr 13.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1552-4833
DOI:10.1002/ajmg.a.70127