List of works - Javed Akram

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts

scientific article

A mutation in IFT43 causes non-syndromic recessive retinal degeneration.

scientific article published on 18 September 2017

A new locus for autosomal recessive congenital cataract identified in a Pakistani family

scientific article

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

scientific article published on 04 August 2016

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

scientific article

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

scientific article

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family

scientific article

Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly

scientific article published on 26 September 2019

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

scientific article published on 9 March 2017

Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

scientific article published on 30 January 2017

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

scientific article

Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

scientific article

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

scientific journal article

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

scientific article

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

scientific article published on 9 September 2015

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases

scientific article published on 10 June 2016

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

scientific article published on 24 September 2015

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

scientific article

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

scientific article

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

scientific article published on 29 August 2018

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

scientific article

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

scientific article

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa ⬇️

scientific article published on May 25, 2011

Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

scientific article

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy

scientific article published on 19 July 2013

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

scientific article published on 16 July 2016

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.

scientific article

List of works by Javed Akram

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts

A mutation in IFT43 causes non-syndromic recessive retinal degeneration.

A new locus for autosomal recessive congenital cataract identified in a Pakistani family

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

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family

Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly

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

Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa ⬇️

Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.