High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma-Reference-Cited by-同舟云学术

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

Published:2024-03-19 Issue:3 Volume:65 Page:25
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Kunisetty Bhavana¹,Martin-Giacalone Bailey A.²³,Zhao Xiaonan¹⁴,Luna Pamela N.¹,Brooks Brian P.⁵,Hufnagel Robert B.⁵,Shaw Chad A.¹,Rosenfeld Jill A.¹,Agopian A. J.⁶,Lupo Philip J.³,Scott Daryl A.¹⁷

Affiliation:

1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States

2. Division of Public Health Sciences, Department of Surgery, Washington University School of Medicine, St. Louis, Missouri, United States

3. Section of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States

4. Baylor Genetics, Houston, Texas, United States

5. Ophthalmic Genetics & Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, United States

6. Department of Epidemiology, Human Genetics & Environmental Sciences, UTHealth School of Public Health, Houston, Texas, United States

7. Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, United States

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Reference50 articles.

1. Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma;Hornby;Ophthalmic Epidemiol,2000

2. Childhood blindness in the context of VISION 2020—the right to sight;Gilbert;Bull World Health Organ,2001

3. Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum;Skalicky;JAMA Ophthalmol,2013

4. Anophthalmos, microphthalmos, and coloboma in the United Kingdom: clinical features, results of investigations, and early management;Shah;Ophthalmology,2012

5. Classification of microphthalmos and coloboma;Warburg;J Med Genet,1993