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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

Molecular psychiatry, 2017-11, Vol.22 (11), p.1604-1614

2017

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Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American journal of human genetics, 2011-06, Vol.88 (6), p.827-838

2011

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Overview of the Cornea: Structure, Function, and Development

Progress in molecular biology and translational science, 2015, Vol.134, p.7-23

2015

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Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy

American journal of human genetics, 2012-03, Vol.90 (3), p.533-539

2012

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Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

American journal of human genetics, 2009-05, Vol.84 (5), p.664-671

2009

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A single-base substitution in the seed region of miR-184 causes EDICT syndrome

Investigative ophthalmology & visual science, 2012-01, Vol.53 (1), p.348-353

2012

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Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4

American journal of human genetics, 2013-10, Vol.93 (4), p.758-764

2013

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Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

PloS one, 2019-12, Vol.14 (12), p.e0225010-e0225010

2019

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A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

Human genomics, 2018-07, Vol.12 (1), p.35-35, Article 35

2018

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

Investigative ophthalmology & visual science, 2017-04, Vol.58 (4), p.2218-2238

2017

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

Molecular vision, 2020, Vol.26, p.14-25

2020

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Transcriptome Profiling of Developing Murine Lens Through RNA Sequencing

Investigative ophthalmology & visual science, 2015-07, Vol.56 (8), p.4919-4926

2015

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

Scientific reports, 2022-10, Vol.12 (1), p.17218-17218, Article 17218

2022

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A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

American journal of human genetics, 2010-05, Vol.86 (5), p.805-812

2010

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Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

Molecular psychiatry, 2020-11, Vol.25 (11), p.3101-3102

2020

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

Nature communications, 2016-04, Vol.7 (1), p.10953-10953, Article 10953

2016

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Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

Human genetics, 2007-11, Vol.122 (3-4), p.293-299

2007

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

Human genetics, 2021-04, Vol.140 (4), p.649-666

2021

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Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

American journal of human genetics, 2010, Vol.86 (1), p.45-53

2010

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Examining the effects of cigarette smoke on mouse lens through a multi OMIC approach

Scientific reports, 2021-09, Vol.11 (1), p.18801-18801, Article 18801

2021

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Lens Biology and Biochemistry

Progress in molecular biology and translational science, 2015, Vol.134, p.169-201

2015

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Metabolome profiling of the developing murine lens

Experimental eye research, 2021-01, Vol.202, p.108343-108343, Article 108343

2021

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

Molecular vision, 2010-03, Vol.16, p.511-517

2010

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Comparative transcriptome analysis of hESC- and iPSC-derived lentoid bodies

Scientific reports, 2019-12, Vol.9 (1), p.18552-9, Article 18552

2019

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Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC–RPEs model

Human mutation, 2021-02, Vol.42 (2), p.189-199

2021

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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

Overview of the Cornea: Structure, Function, and Development

Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

A single-base substitution in the seed region of miR-184 causes EDICT syndrome

Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

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

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

Transcriptome Profiling of Developing Murine Lens Through RNA Sequencing

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

A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

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

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

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

Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

Examining the effects of cigarette smoke on mouse lens through a multi OMIC approach

Lens Biology and Biochemistry

Metabolome profiling of the developing murine lens

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

Comparative transcriptome analysis of hESC- and iPSC-derived lentoid bodies

Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC–RPEs model

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