Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

• Sarah J. Garnai ,

  Contributed equally to this work with: Sarah J. Garnai, Michelle L. Brinkmeier

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Writing – original draft, Writing – review & editing

  Affiliations Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America, Harvard Medical School, Boston, MA, United States of America

  http://orcid.org/0000-0002-0283-5437

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• Michelle L. Brinkmeier ,

  Contributed equally to this work with: Sarah J. Garnai, Michelle L. Brinkmeier

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

  Affiliations Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America, Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States of America

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• Ben Emery,

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Resources, Writing – original draft, Writing – review & editing

  Affiliation Jungers Center for Neurosciences Research, Department of Neurology, Oregon Health & Science University, Portland, OR, United States of America

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• Tomas S. Aleman,

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

  Affiliations The Children’s Hospital of Philadelphia, Philadelphia, PA, United States of America, Scheie Eye Institute, Department of Ophthalmology, Philadelphia, PA, United States of America

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• Louise C. Pyle,

  Roles Investigation, Resources, Writing – review & editing

  Affiliation Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, United States of America

  http://orcid.org/0000-0002-8933-9320

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• Biliana Veleva-Rotse,

  Roles Investigation, Resources

  Affiliation Jungers Center for Neurosciences Research, Department of Neurology, Oregon Health & Science University, Portland, OR, United States of America

  http://orcid.org/0000-0002-7783-0112

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• Robert A. Sisk,

  Roles Data curation, Investigation, Resources, Writing – original draft

  Affiliation Cincinnati Eye Institute, Cincinnati, Ohio, United States of America

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• Frank W. Rozsa,

  Roles Project administration, Resources, Writing – review & editing

  Affiliations Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America, Molecular and Behavior Neuroscience Institute, University of Michigan, Ann Arbor, MI, United States of America

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• Ayse Bilge Ozel,

  Roles Methodology, Resources, Software

  Affiliation Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States of America

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• Jun Z. Li,

  Roles Investigation, Methodology, Software

  Affiliation Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States of America

  ⨯
• Sayoko E. Moroi,

  Roles Resources

  Affiliation Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America

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• Steven M. Archer,

  Roles Resources, Writing – review & editing

  Affiliation Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America

  http://orcid.org/0000-0002-5539-4129

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• Cheng-mao Lin,

  Roles Investigation, Methodology, Writing – review & editing

  Affiliation Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America

  http://orcid.org/0000-0003-2409-9423

  ⨯
• Sarah Sheskey,

  Roles Investigation, Methodology, Writing – review & editing

  Affiliation Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America

  http://orcid.org/0000-0003-3394-4174

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• Laurel Wiinikka-Buesser,

  Roles Data curation, Investigation, Resources

  Affiliation Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America

  ⨯
• James Eadie,

  Roles Investigation

  Affiliation Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America

  ⨯
• Jill E. Urquhart,

  Roles Investigation

  Affiliations Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary’s Hospital, Manchester, United Kingdom, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom

  ⨯
• Graeme C.M. Black,

  Roles Funding acquisition, Investigation, Supervision, Writing – review & editing

  Affiliations Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary’s Hospital, Manchester, United Kingdom, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom

  ⨯
• Mohammad I. Othman,

  Roles Investigation

  Affiliation Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America

  ⨯
• Michael Boehnke,

  Roles Resources

  Affiliation Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, United States of America

  http://orcid.org/0000-0002-6442-7754

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• Scot A. Sullivan,

  Roles Resources

  Affiliation Dean McGee Eye Institute, Department of Ophthalmology, University of Oklahoma, Oklahoma City, OK

  ⨯
• Gregory L. Skuta,

  Roles Resources

  Affiliation Dean McGee Eye Institute, Department of Ophthalmology, University of Oklahoma, Oklahoma City, OK

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• Hemant S. Pawar,

  Roles Data curation, Formal analysis, Investigation

  Affiliation Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America

  ⨯
• Alexander E. Katz,

  Roles Resources

  Affiliation Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America

  http://orcid.org/0000-0001-9706-9490

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• Laryssa A. Huryn,

  Roles Investigation, Writing – review & editing

  Affiliation Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America

  ⨯
• Robert B. Hufnagel,

  Roles Investigation, Resources, Writing – review & editing

  Affiliation Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America

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• The Genomic Ascertainment Cohort ,

  ¶Membership of the Genomic Ascertainment Cohort is listed in the Acknowledgments.

  ⨯
• Sally A. Camper,

  Roles Conceptualization, Formal analysis, Funding acquisition, Methodology, Project administration, Supervision, Writing – review & editing

  Affiliation Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States of America

  http://orcid.org/0000-0001-8556-3379

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• Julia E. Richards,

  Roles Conceptualization, Funding acquisition, Methodology, Project administration, Supervision, Writing – review & editing

  Affiliations Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America, Department of Epidemiology, University of Michigan, Ann Arbor, MI, United States of America

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•  [ ... ],
• Lev Prasov

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: lev.prasov@nih.gov, lprasov@umich.edu

  Affiliations Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America

  http://orcid.org/0000-0002-6635-1116

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