Associated Papers
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
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
Khan S et al.
Annals of Human Genetics, 2019
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Maria M et al.
Scientific Reports, 2016
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
Ajmal M et al.
Molecular Vision, 2013
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