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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Morimoto, Marie; Bhambhani, Vikas; Gazzaz, Nour; Davids, Mariska; Sathiyaseelan, Paalini; Macnamara, Ellen F; Lange, Jennifer; Lehman, Anna; Zerfas, Patricia M; Murphy, Jennifer L; Acosta, Maria T; Wang, Camille; Alderman, Emily; Reichert, Sara; Thurm, Audrey; Adams, David R; Introne, Wendy J; Gorski, Sharon M; Boerkoel, Cornelius F; Gahl, William A; Tifft, Cynthia J; Malicdan, May Christine V.
Affiliation
  • Morimoto M; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Bhambhani V; Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, 55404, USA.
  • Gazzaz N; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.
  • Davids M; Provincial Medical Genetics Program, British Columbia Women's and Children's Hospital, Vancouver, BC, V6H 3N1, Canada.
  • Sathiyaseelan P; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Macnamara EF; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Lange J; Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, V5Z 1L3, Canada.
  • Lehman A; Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC, V5A 1S6, Canada.
  • Zerfas PM; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Acosta MT; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.
  • Wang C; Diagnostic and Research Services Branch, Office of Research Services, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Alderman E; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Reichert S; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Thurm A; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.
  • Adams DR; Provincial Medical Genetics Program, British Columbia Women's and Children's Hospital, Vancouver, BC, V6H 3N1, Canada.
  • Gorski SM; Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, 55404, USA.
  • Boerkoel CF; Neurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Gahl WA; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Tifft CJ; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Malicdan MCV; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20892, USA.
NPJ Genom Med ; 8(1): 4, 2023 Feb 10.
Article in En | MEDLINE | ID: mdl-36765070
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: NPJ Genom Med Year: 2023 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: NPJ Genom Med Year: 2023 Document type: Article