Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases.

Autor: Abuzaitoun RO; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan., Branham KH; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan., Lacy GD; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan., Hufnagel RB; Medical Genetics and Ophthalmic Genomics Unit, Ophthalmic Genomics Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Kumar MM; Blueprint Genetics Ltd, Helsinki, Finland., Koskenvuo JW; Blueprint Genetics Ltd, Helsinki, Finland., Tuupanen S; Blueprint Genetics Ltd, Helsinki, Finland., Durham T; Foundation Fighting Blindness, Columbia, Maryland., Zhao PY; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan., Abalem MF; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan.; Department of Ophthalmology and Otolaryngology, University of Sao Paulo Medical School, São Paulo, Brazil., Andrews CA; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan., Schlegel D; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan., Khan NW; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan., Fahim AT; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan., Heckenlively JR; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan., Musch DC; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan.; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan., Jayasundera KT; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan.

Publikováno v: JAMA ophthalmology [JAMA Ophthalmol] 2024 Nov 07. Date of Electronic Publication: 2024 Nov 07.

Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.

Autor: Ullah E; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Lin S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, United Kingdom., Lu J; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas., Bender C; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Webster AR; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, United Kingdom., Malka S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, United Kingdom., Madhusudhan S; Department of Eye & Vision Sciences, University of Liverpool, Liverpool, United Kingdom.; St Paul's Eye Unit, Liverpool University Hospitals NHS Foundation Trust, Liverpool, United Kingdom., Rees E; Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Williams D; Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Agather AR; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Cukras CA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.; Center for Integrated Health Care Research, Kaiser Permanente Hawaii, Hawaii Permanente Medical Group, Honolulu., Chen R; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas., Huryn LA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Arno G; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, United Kingdom.; JC Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina., Guan B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.

Publikováno v: JAMA ophthalmology [JAMA Ophthalmol] 2024 Nov 01; Vol. 142 (11), pp. 1081-1086.

Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans.

Autor: Owete AC; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ionin R; National Institutes of Health Library, National Institutes of Health, Bethesda, MD, USA., Huryn LA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA., Cukras CA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA., Blain D; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA., Agather AR; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA., Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA., Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA., Nwanyanwu K; Department of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT, USA., Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA.

Publikováno v: Translational vision science & technology [Transl Vis Sci Technol] 2024 Sep 03; Vol. 13 (9), pp. 4.

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.

Autor: Liu J; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., He Y; Fermentation Facility, Biochemistry and Biophysics Center, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA., Lwin C; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Han M; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Guan B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Naik A; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Bender C; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Moore N; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Huryn LA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Sergeev YV; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Qian H; Visual Function Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Zeng Y; Visual Function Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Dong L; Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Liu P; Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Lei J; Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Haugen CJ; Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Prasov L; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48105, USA., Shi R; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, 100730 Beijing, China., Dollfus H; Centre de référence pour les Affections Rares Ophtalmologiques CARGO, Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, UMRS_1112, Strasbourg 67091, France., Aristodemou P; Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus.; VRMCy Centre, Limassol 3025, Cyprus., Laich Y; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Genetics, Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK., Németh AH; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, ACE Building, Nuffield Orthopaedic Centre, Oxford OX3 7HE, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK., Taylor J; Oxford Regional Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK., Downes S; Nuffield Department of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK., Krawczynski MR; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-512, Poland., Meunier I; National Referent Centre for Rare Sensory Diseases, Montpellier University Hospital, Montpellier University, Montpellier 34295, France., Strassberg M; Invitae Corporation, San Francisco, CA 94103, USA., Tenney J; Division of Medical Genetics, Department of Pediatrics, UCSF School of Medicine, San Francisco, CA 94143, USA., Gao J; Division of Medical Genetics, Department of Pediatrics, UCSF School of Medicine, San Francisco, CA 94143, USA., Shear MA; Division of Medical Genetics, Department of Pediatrics, UCSF School of Medicine, San Francisco, CA 94143, USA., Moore AT; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Ophthalmology, UCSF School of Medicine, San Francisco, CA 94143, USA., Duncan JL; Department of Ophthalmology, UCSF School of Medicine, San Francisco, CA 94143, USA., Menendez B; Department of Pediatrics, University of Illinois School of Medicine, Chicago, IL 60612, USA., Hull S; Department of Ophthalmology, University of Auckland, Auckland 1023, New Zealand., Vincent AL; Department of Ophthalmology, University of Auckland, Auckland 1023, New Zealand., Siskind CE; Neurology and Neurological Sciences, Stanford School of Medicine, Stanford, CA 94305, USA., Traboulsi EI; The Center for Genetic Eye Diseases, The Cleveland Clinic Eye Institute, Cleveland, OH 44106, USA., Blackstone C; Movement Disorders Division, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Sisk RA; Department of Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Miraldi Utz V; Department of Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Webster AR; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Genetics, Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK., Michaelides M; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Genetics, Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK., Arno G; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Genetics, Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK., Synofzik M; Division Translational Genomics of Neurodegenerative Diseases Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany., Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Genetics and Center for Integrated Healthcare Research, Kaiser Permanente Hawaii Region, Honolulu, HI 98619, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Jun 03; Vol. 147 (6), pp. 2085-2097.

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.

Autor: Kunisetty B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States., Martin-Giacalone BA; Division of Public Health Sciences, Department of Surgery, Washington University School of Medicine, St. Louis, Missouri, United States.; Section of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States., Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.; Baylor Genetics, Houston, Texas, United States., Luna PN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States., Brooks BP; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, United States., Hufnagel RB; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, United States., Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States., Agopian AJ; Department of Epidemiology, Human Genetics & Environmental Sciences, UTHealth School of Public Health, Houston, Texas, United States., Lupo PJ; Section of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, United States.

Publikováno v: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2024 Mar 05; Vol. 65 (3), pp. 25.