| Institution: | 1. https://orcid.org/0000-0002-0801-666X;2. NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA;3. Elizabeth A. Burke, NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.;4. Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA;5. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, USA;6. Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA;7. Human Development Section, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA;8. Electromyography Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA;9. Department of Neurology, Children's National Medical Center, Washington, District of Columbia, USA;10. Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA |
