Bushra Rauf

Lahore, PB 54500, Pakistan

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications

Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

Journal: American journal of human genetics
Published: March 27, 2026

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Journal: Human genome variation
Published: April 14, 2022

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Journal: Scientific reports
Published: November 25, 2021

A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.

A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.

Journal: Human genetics
Published: May 05, 2020

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families.

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families.

Journal: Human genome variation
Published: December 05, 2019

Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.

Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.

Journal: Molecular vision
Published: May 24, 2019

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Journal: PloS one
Published: March 10, 2017

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.

Journal: PloS one
Published: April 04, 2016

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Journal: PloS one
Published: March 11, 2016

A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.

A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.

Journal: Human genome variation
Published: October 21, 2015
Showing 1-10 of 10

Last Updated: 09/26/2026