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

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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
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  Data: 35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.
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  Data: <searchLink fieldCode="AU" term="%22Li+MH%22">Li MH</searchLink>; Division of Genetics, Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Coleman+DL%22">Coleman DL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hogan+K%22">Hogan K</searchLink>; Division of Genetics, Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Luz+D%22">Luz D</searchLink>; Division of Genetics, Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Bhandari+L%22">Bhandari L</searchLink>; Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Belnap+N%22">Belnap N</searchLink>; Neurogenomics Division, Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Busa+T%22">Busa T</searchLink>; Department of Medical Genetics, Timone Children's Hospital, AP-HM, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Coutton+C%22">Coutton C</searchLink>; University Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Institut for Advanced Biosciences, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Dieterich+K%22">Dieterich K</searchLink>; University Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Institut for Advanced Biosciences, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Gorokhova+S%22">Gorokhova S</searchLink>; Department of Medical Genetics, Timone Children's Hospital, AP-HM, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U 1251, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+C%22">Hildebrandt C</searchLink>; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina, Chapel Hill, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Logan+R%22">Logan R</searchLink>; Division of Neurosciences, Children's Healthcare of Atlanta, Atlanta, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22Mariani+M%22">Mariani M</searchLink>; Department of Pediatrics, ASST Lariana Sant'anna Hospital, Como, Italy.<br /><searchLink fieldCode="AU" term="%22Morleo+M%22">Morleo M</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Nigro+V%22">Nigro V</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Pappas+J%22">Pappas J</searchLink>; Department of Pediatrics, Clinical Genetics Services, New York University Grossman School of Medicine, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Rabin+R%22">Rabin R</searchLink>; Department of Pediatrics, Clinical Genetics Services, New York University Grossman School of Medicine, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Schoch+K%22">Schoch K</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Selicorni+A%22">Selicorni A</searchLink>; Department of Pediatrics, ASST Lariana Sant'anna Hospital, Como, Italy.<br /><searchLink fieldCode="AU" term="%22Shashi+V%22">Shashi V</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Spillmann+R%22">Spillmann R</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Sullivan+J%22">Sullivan J</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Tardy+C%22">Tardy C</searchLink>; Department of Medical Genetics, Timone Children's Hospital, AP-HM, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Vergano+SAS%22">Vergano SAS</searchLink>; Department of Pediatrics, Eastern Virginia Medical School, Children's Hospital of the King's Daughters, Norfolk, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Grill+B%22">Grill B</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Baranano+K%22">Baranano K</searchLink>; Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2026 Apr 13. <i>Date of Electronic Publication: </i>2026 Apr 13.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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