Associated Papers
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.
Ali A et al.
Molecular Biology Reports, 2023
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A et al.
International Journal of Molecular Sciences, 2023
Two novel variants in a Bardet-Biedl syndrome type 5 patient with severe renal phenotype.
Shao Y et al.
Nephrology (carlton, Vic.), 2022
Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.
Saeed S et al.
Diabetes, 2020
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA et al.
European Journal of Human Genetics : Ejhg, 2020
31836858 (PubMed )
Supplement: 41431_2019_548_MOESM1_ESM.docx
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
Khan S et al.
Annals of Human Genetics, 2019
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Ullah A et al.
Molecular Vision, 2017
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Maria M et al.
Scientific Reports, 2016
27708425 (PubMed )
Supplement: srep34764-s1.pdf
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.
Harville HM et al.
Journal of Medical Genetics, 2010
Select a paper to view details