Shahid Mahmood Baig

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR

The paper reports molecular genetic diagnoses for 28 consanguineous OCA families and identifies a pathogenic deep intron variant in TYR that causes OCA through pseudoexon inclusion.

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients

The paper identifies rare homozygous variants in cilia genes associated with congenital heart defects in consanguineous Pakistani patients.

RRP7A links primary microcephaly to radial glial cells and dysfunction of ribosomal biogenesis, neurogenesis and ciliary resorption

This study identifies a mutation in RRP7A linked to primary microcephaly, showing its role in neurogenesis, ribosomal biogenesis, and ciliary resorption in neural stem cells.