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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 25, 2024
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Records 1 - 17 (of 17 Records)
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Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.
Bela Parekh et al. Genes 2023 14(3)
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Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.
Animesh Sahu et al. Indian journal of ophthalmology 2023 71(3) 935-940
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Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Amlie-Wolf Louise et al. American journal of medical genetics. Part A 2021
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Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson Daniel et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug
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Genetic testing for inherited ocular conditions in a developing country.
Zanolli Mario et al. Ophthalmic genetics 2020 Mar 1-5
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Genome-wide association studies of structural birth defects: A review and commentary.
Lupo Philip J et al. Birth defects research 2019 Oct
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CLINGEN Actionability Report for Basal Cell Nevus Syndrome (BCNS) - PTCH1
ClinGen Actionability Working Group
Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.
Evans Carey-Anne et al. American journal of medical genetics. Part A 2019 Jul
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Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al. Human genetics 2019 Feb
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The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders.
Patel Aara et al. Ophthalmology 2019 Jan
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Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
Tarilonte María et al. Frontiers in genetics 2018 9479
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Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.
Slavotinek Anne et al. Human genetics 2018 Oct
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The classification of pediatric and young adult renal cell carcinomas registered on the Children's Oncology Group (COG) protocol AREN03B2 after focused genetic testing.
Cajaiba Mariana M et al. Cancer 2018 Jun
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Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom Claudia et al. Ophthalmic genetics 2018 May 1-7
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Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
Riera Marina et al. Molecular genetics & genomic medicine 2017 Nov 5(6) 709-719
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Genetic Testing in Pediatric Ophthalmology.
Verma Ishwar Chander et al. Indian journal of pediatrics 2017 Oct
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Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.
Richardson Rose et al. European journal of human genetics : EJHG 2017 Jan
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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