Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

• Prashant Sharma ,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: sharmap@mail.nih.gov

  Affiliations NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

  http://orcid.org/0000-0002-1165-980X

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• Marie Reichert,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Resources, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliations NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Yan Lu,

  Roles Data curation, Formal analysis, Investigation, Methodology, Resources, Validation, Visualization, Writing – review & editing

  Affiliation Iron Metabolism Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia

  http://orcid.org/0000-0002-7522-9454

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• Thomas C. Markello,

  Roles Data curation, Formal analysis, Investigation, Resources, Software, Visualization

  Affiliations NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland Bethesda, Maryland, United States of America

  http://orcid.org/0000-0002-2298-9759

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• David R. Adams,

  Roles Data curation, Investigation, Resources, Visualization

  Affiliations NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Peter J. Steinbach,

  Roles Methodology, Resources, Software, Visualization, Writing – review & editing

  Affiliation Center for Molecular Modeling, Center for Information Technology, National Institutes of Health, Bethesda, Maryland, United States of America

  http://orcid.org/0000-0002-6710-3472

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• Brie K. Fuqua,

  Roles Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Resources, Validation, Visualization, Writing – review & editing

  Affiliation Department of Medicine, University of California, Los Angeles, United States of America

  http://orcid.org/0000-0002-4875-6523

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• Xenia Parisi,

  Roles Investigation, Resources

  Affiliations NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Stephen G. Kaler,

  Roles Data curation, Formal analysis, Investigation, Resources, Writing – review & editing

  Affiliation Section on Translational Neuroscience, Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America

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• Christopher D. Vulpe,

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Resources, Supervision, Writing – review & editing

  Affiliation Center for Environmental and Human Toxicology, Department of Physiological Sciences, University of Florida, Gainesville, Florida, United States of America

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• Gregory J. Anderson,

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Resources, Supervision, Writing – review & editing

  Affiliation Iron Metabolism Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia

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• William A. Gahl,

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliations NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland Bethesda, Maryland, United States of America

  http://orcid.org/0000-0002-2494-6752

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• May Christine V. Malicdan

  Roles Conceptualization, Data curation, Formal analysis, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – review & editing

  Affiliations NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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