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4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate

European journal of medical genetics, 2009-11, Vol.52 (6), p.454-457

2009

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Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development

Human molecular genetics, 2003-12, Vol.12 (24), p.3269-3276

2003

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An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis

Human molecular genetics, 2012-01, Vol.21 (2), p.384-393

2012

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Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling

The Journal of molecular diagnostics : JMD, 2022-12, Vol.24 (12), p.1232-1239

2022

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Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

Journal of medical genetics, 2018-02, Vol.55 (2), p.114-121

2018

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Atypical presentation of CRB1 retinopathy

Acta ophthalmologica (Oxford, England), 2016-09, Vol.94 (6), p.e513-e514

2016

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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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A bidirectional YAC walk from the Norrie disease (NDP) locus

Genomics (San Diego, Calif.), 1995-02, Vol.25 (3), p.644-649

1995

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BIGH3 Mutation Spectrum in Corneal Dystrophies

Investigative ophthalmology & visual science, 2002-04, Vol.43 (4), p.949-954

2002

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Breast cancer susceptibility variants alter risks in familial disease

Journal of medical genetics, 2010-02, Vol.47 (2), p.126-131

2010

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Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation

Human mutation, 2007-10, Vol.28 (10), p.968-977

2007

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Childhood-onset autosomal recessive bestrophinopathy

Archives of ophthalmology (1960), 2011-08, Vol.129 (8), p.1088

2011

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Clinical and genetic variability in children with partial albinism

Scientific reports, 2019-11, Vol.9 (1), p.16576-10, Article 16576

2019

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Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)

European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.4-4

2012

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Coats' Disease of the Retina (Unilateral Retinal Telangiectasis) Caused by Somatic Mutation in the NDP Gene: A Role for Norrin in Retinal Angiogenesis

Human molecular genetics, 1999-10, Vol.8 (11), p.2031-2035

1999

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Cochlear implantation in the era of genomic medicine

Cochlear implants international, 2020-03, Vol.21 (2), p.117-120

2020

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Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

American journal of human genetics, 2003-06, Vol.72 (6), p.1359-1369

2003

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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Scientific reports, 2021-10, Vol.11 (1), p.20607-20607, Article 20607

2021

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Congenital and vascular retinal abnormalities

Pediatric Ophthalmology and Strabismus, 2013, p.502-509.e2

Fourth Edition, 2013

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Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

American journal of human genetics, 2004-07, Vol.75 (1), p.122-127

2004

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Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

American journal of human genetics, 2010-05, Vol.86 (5), p.686-695

2010

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Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

Human molecular genetics, 2002, Vol.11 (1), p.33-42

2002

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A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding

Human molecular genetics, 2003-03, Vol.12 (6), p.585-594

2003

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Erosive Vitreoretinopathy and Wagner Disease Are Caused by Intronic Mutations in CSPG2/Versican That Result in an Imbalance of Splice Variants

Investigative ophthalmology & visual science, 2006-08, Vol.47 (8), p.3565-3572

2006

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Establishing Genotype–phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation

Otology & neurotology, 2020-04, Vol.41 (4), p.431-437

2020

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4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate

Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development

An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis

Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

Atypical presentation of CRB1 retinopathy

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

A bidirectional YAC walk from the Norrie disease (NDP) locus

BIGH3 Mutation Spectrum in Corneal Dystrophies

Breast cancer susceptibility variants alter risks in familial disease

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation

Childhood-onset autosomal recessive bestrophinopathy

Clinical and genetic variability in children with partial albinism

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)

Coats' Disease of the Retina (Unilateral Retinal Telangiectasis) Caused by Somatic Mutation in the NDP Gene: A Role for Norrin in Retinal Angiogenesis

Cochlear implantation in the era of genomic medicine

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Congenital and vascular retinal abnormalities

Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding

Erosive Vitreoretinopathy and Wagner Disease Are Caused by Intronic Mutations in CSPG2/Versican That Result in an Imbalance of Splice Variants

Establishing Genotype–phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation

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