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Open Access
Peer-reviewed
Research Article
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Michael Boehnke,
Roles Resources
Affiliation Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, United States of America
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Scot A. Sullivan,
Roles Resources
Affiliation Dean McGee Eye Institute, Department of Ophthalmology, University of Oklahoma, Oklahoma City, OK
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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
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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
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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
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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.
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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
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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
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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
- Sarah J. Garnai,
- Michelle L. Brinkmeier,
- Ben Emery,
- Tomas S. Aleman,
- Louise C. Pyle,
- Biliana Veleva-Rotse,
- Robert A. Sisk,
- Frank W. Rozsa,
- Ayse Bilge Ozel,
- Jun Z. Li
![PLOS](/resource/img/logo-plos.png)
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- Published: May 2, 2019
- https://doi.org/10.1371/journal.pgen.1008130