Associated Papers
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report.
Mizumoto K et al.
Medicine, 2022
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I et al.
Npj Genomic Medicine, 2022
A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.
Hitti-Malin RJ et al.
Genes, 2021
Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.
Ali G et al.
Biomed Research International, 2021
Bardet-Biedl syndrome and related disorders in Japan.
Hirano M et al.
Journal of Human Genetics, 2020
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA et al.
European Journal of Human Genetics : Ejhg, 2020
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
Dan H et al.
Molecular Genetics & Genomic Medicine, 2020
Forty-five patient-derived xenografts capture the clinical and biological heterogeneity of Wilms tumor.
Murphy AJ et al.
Nature Communications, 2019
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sanchez-Navarro I et al.
Scientific Reports, 2018
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Maria M et al.
Scientific Reports, 2016
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.
Hirano M et al.
Plos One, 2015
[Clinical features of Bardet-Biedl syndrome with renal abnormalities as initial manifestations].
Wang H et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Janssen S et al.
Human Genetics, 2011
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.
Harville HM et al.
Journal of Medical Genetics, 2010
Further support for digenic inheritance in Bardet-Biedl syndrome.
Fauser S et al.
Journal of Medical Genetics, 2003