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Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

American journal of human genetics, 2011-07, Vol.89 (1), p.183-190

2011

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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

American journal of human genetics, 2016-12, Vol.99 (6), p.1305-1315

2016

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Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

American journal of human genetics, 2014-05, Vol.94 (5), p.760-769

2014

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Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

American journal of human genetics, 2009-11, Vol.85 (5), p.711-719

2009

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Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

American journal of human genetics, 2013-12, Vol.93 (6), p.1143-1150

2013

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Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

American journal of human genetics, 2008-01, Vol.82 (1), p.19-31

2008

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Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

American journal of human genetics, 2013-08, Vol.93 (2), p.321-329

2013

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Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration

American journal of human genetics, 2006-12, Vol.79 (6), p.1059-1070

2006

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Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause “Cone Dystrophy with Supernormal Rod Electroretinogram” in Humans

American journal of human genetics, 2006-09, Vol.79 (3), p.574-579

2006

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Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina

American journal of human genetics, 2011-12, Vol.89 (6), p.782-791

2011

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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

American journal of human genetics, 2020-11, Vol.107 (5), p.802-814

2020

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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

American journal of human genetics, 2017-04, Vol.100 (4), p.592-604

2017

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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

American journal of human genetics, 2017-02, Vol.100 (2), p.334-342

2017

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Somatic inactivation of the VHL gene in von Hippel-Lindau disease tumors

American journal of human genetics, 1997-04, Vol.60 (4), p.765-771

1997

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Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A^sub 2^, Cause Benign Fleck Retina

American journal of human genetics, 2011-12, Vol.89 (6), p.782

2011

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Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A sub(2), Cause Benign Fleck Retina

American journal of human genetics, 2011-12, Vol.89 (6), p.782-791

2011

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An Analysis of Phenotypic Variation in the Familial Cancer Syndrome von Hippel–Lindau Disease: Evidence for Modifier Effects

American journal of human genetics, 1998-10, Vol.63 (4), p.1025-1035

1998

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DNA Methylation Signatures within the Human Brain

American journal of human genetics, 2007-12, Vol.81 (6), p.1304-1315

2007

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Genotyping Array Design and Data Quality Control in the Million Veteran Program

American journal of human genetics, 2020-04, Vol.106 (4), p.535-548

2020

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Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

American journal of human genetics, 2016-11, Vol.99 (5), p.1163-1171

2016

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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

American journal of human genetics, 2018-07, Vol.103 (1), p.144-153

2018

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Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration

Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause “Cone Dystrophy with Supernormal Rod Electroretinogram” in Humans

Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Somatic inactivation of the VHL gene in von Hippel-Lindau disease tumors

Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A^sub 2^, Cause Benign Fleck Retina

Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A sub(2), Cause Benign Fleck Retina

An Analysis of Phenotypic Variation in the Familial Cancer Syndrome von Hippel–Lindau Disease: Evidence for Modifier Effects

DNA Methylation Signatures within the Human Brain

Genotyping Array Design and Data Quality Control in the Million Veteran Program

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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