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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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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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Retinitis Pigmentosa[original query]>>Original Studies[Product Type]
Phenotypic heterogeneity in family members of patients with retinitis pigmentosa.
Rajasekar Loheshwari Kuppuraj et al. Indian J Ophthalmol 2023 71(6) 2504-2511
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Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Tamar Ben Yosef et al. Mol Vis 2023 291-12
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Electronic medical records driven big data analytics in retinal diseases, report number 1: non-oncological retinal diseases in children and adolescents in India.
Komal Agarwal et al. International ophthalmology 2023
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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Janine Reurink et al. HGG advances 2023 4(2) 100181
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Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese Paolo Enrico et al. Frontiers in genetics 2022 13914345
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Patients with Retinitis Pigmentosa May Have a Higher Risk of Developing Open-Angle Glaucoma.
Hung Man-Chen et al. Journal of ophthalmology 2022 20229719095
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Experiences of genetic testing among individuals with retinitis pigmentosa.
Krauss Emily et al. Ophthalmic genetics 2022 1-8
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Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
Dong Li et al. JAMA network open 2022 5(5) e229960
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A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo María et al. NPJ genomic medicine 2022 7(1) 17
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Clinical Observation and Genotype-Phenotype analysis of ABCA4- related Hereditary retinal degeneration before Gene Therapy.
Xiao Xuan et al. Current gene therapy 2022
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Prime Editing for Inherited Retinal Diseases.
da Costa Bruna Lopes et al. Frontiers in genome editing 2021 3775330
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Acupuncture for retinitis pigmentosa: study protocol for a randomised, sham-controlled trial.
Huang Hui et al. BMJ open 2021 11(11) e049245
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Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Iannaccone Alessandro et al. American journal of medical genetics. Part A 2021
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Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.
Shen Ren-Juan et al. Orphanet journal of rare diseases 2021 16(1) 278
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Partial recovery of visual function in a blind patient after optogenetic therapy
JA Sahel et al, Nature Medicine, May 24, 2021
Deep Learning-Based Classification of Inherited Retinal Diseases Using Fundus Autofluorescence.
Miere Alexandra et al. Journal of clinical medicine 2020 Oct 9(10)
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Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial
L Kuehlwein et al, JAMA Dermatology, October 15, 2020
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.
Goetz Kerry E et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Sep
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Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
Georgiou Michalis et al. American journal of ophthalmology 2020 Aug
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Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation.
Mansfield Brian C et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug e31825
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A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff Elena R et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug
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The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study.
Sabbaghi Hamideh et al. Archives of Iranian medicine 2020 Jul 23(7) 445-454
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Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah Mital et al. Ophthalmic genetics 2020 Jun 1-7
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Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
JC Kapetanovic et al. Nature Medicine, February 24, 2020
A nation-wide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon Dror et al. Human mutation 2019 Aug
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Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge.
Holtan Josephine Prener et al. Acta ophthalmologica 2019 Aug
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Genetic Screening of the Usher Syndrome in Cuba.
Santana Elayne E et al. Frontiers in genetics 2019 10501
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Genetic testing in patients with retinitis pigmentosa: features of unsolved cases.
Birtel Johannes et al. Clinical & experimental ophthalmology 2019 Apr
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The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar
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The location of exon 4 mutations in RP1 raises challenges for genetic counselling and gene therapy.
Nanda A et al. American journal of ophthalmology 2019 Feb
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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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