Associated Papers
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
New Omics-Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?
Donato L et al.
International Journal of Molecular Sciences, 2020
Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants.
Hanany M et al.
Journal of Medical Genetics, 2019
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
28944235 (PubMed )
Supplement: MGG3-5-516-s001.xlsx › Table_S1
The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.
Men CJ et al.
Molecular Vision, 2017
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
Schulz E et al.
Nature Communications, 2014
25307848 (PubMed )
Supplement: ncomms6191-s1.pdf
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration.
Nojima S et al.
Nature Communications, 2013
SEMA4A mutations lead to susceptibility to light irradiation, oxidative stress, and ER stress in retinal pigment epithelial cells.
Tsuruma K et al.
Investigative Ophthalmology & Visual Science, 2012
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.
Abid A et al.
Journal of Medical Genetics, 2006
On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness.
Bryant L et al.
Ophthalmic Genetics, 0
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