COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans

• Cassandre Labelle-Dumais ,

  Contributed equally to this work with: Cassandre Labelle-Dumais, David J. Dilworth

  Affiliation Departments of Ophthalmology and Anatomy, Institute for Human Genetics, University of California San Francisco School of Medicine, San Francisco, California, United States of America

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• David J. Dilworth ,

  Contributed equally to this work with: Cassandre Labelle-Dumais, David J. Dilworth

  Current address: Institute for Systems Biology, Seattle, Washington, United States of America

  Affiliation Departments of Ophthalmology and Anatomy, Institute for Human Genetics, University of California San Francisco School of Medicine, San Francisco, California, United States of America

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• Emily P. Harrington,

  Affiliation Departments of Ophthalmology and Anatomy, Institute for Human Genetics, University of California San Francisco School of Medicine, San Francisco, California, United States of America

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• Michelle de Leau,

  Affiliation Departments of Ophthalmology and Anatomy, Institute for Human Genetics, University of California San Francisco School of Medicine, San Francisco, California, United States of America

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• David Lyons,

  Affiliation Departments of Ophthalmology and Anatomy, Institute for Human Genetics, University of California San Francisco School of Medicine, San Francisco, California, United States of America

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• Zhyldyz Kabaeva,

  Affiliation Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, Michigan, United States of America

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• M. Chiara Manzini,

  Affiliation Division of Genetics and The Manton Center for Orphan Disease Research, Children's Hospital Boston, Howard Hughes Medical Institute, and Harvard Medical School, Boston, Massachusetts, United States of America

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• William B. Dobyns,

  Affiliation Departments of Human Genetics, Neurology, and Pediatrics, University of Chicago, Chicago, Illinois, United States of America

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• Christopher A. Walsh,

  Affiliation Division of Genetics and The Manton Center for Orphan Disease Research, Children's Hospital Boston, Howard Hughes Medical Institute, and Harvard Medical School, Boston, Massachusetts, United States of America

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• Daniel E. Michele,

  Affiliation Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, Michigan, United States of America

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• Douglas B. Gould

  * E-mail: gouldd@vision.ucsf.edu

  Affiliation Departments of Ophthalmology and Anatomy, Institute for Human Genetics, University of California San Francisco School of Medicine, San Francisco, California, United States of America

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