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Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

The Lancet (British edition), 2000-09, Vol.356 (9232), p.830-832

2000

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Syndromic ophthalmic genetics

Acta ophthalmologica (Oxford, England), 2012-09, Vol.90 (s249), p.0-0

BLACK, GCM

2012

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Delivering it: retinitis pigmentosa

Acta ophthalmologica (Oxford, England), 2012-09, Vol.90 (s249), p.0-0

BLACK, GCM

2012

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Inherited Ocular Developmental Disease

Acta ophthalmologica (Oxford, England), 2011-09, Vol.89 (s248), p.0-0

BLACK, GCM

2011

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Update on inherited ocular developmental disease

Acta ophthalmologica (Oxford, England), 2010-09, Vol.88 (s246), p.0-0

BLACK, GCM

2010

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The genetics of corneal dystrophies

Acta ophthalmologica (Oxford, England), 2010-09, Vol.88 (s246), p.0-0

BLACK, GCM

2010

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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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Personalized ophthalmology

Clinical genetics, 2014-07, Vol.86 (1), p.1-11

2014

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LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Cell, 2001-11, Vol.107 (4), p.513-523

2001

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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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Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

American journal of human genetics, 2004-04, Vol.74 (4), p.721-730

2004

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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

Nature genetics, 2004-04, Vol.36 (4), p.411-416

2004

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Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation

British journal of ophthalmology, 1996-10, Vol.80 (10), p.915-917

1996

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Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Investigative ophthalmology & visual science, 2004-10, Vol.45 (10), p.3683-3689

2004

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Missense mutations in COL8A2, the gene encoding the alpha 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

Human molecular genetics, 2001-10, Vol.10 (21), p.2415-2423

2001

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Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

American journal of human genetics, 2005-04, Vol.76 (4), p.609-622

2005

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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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Identification of mutations in CUL7 in 3-M syndrome

Nature genetics, 2005-10, Vol.37 (10), p.1119-1124

2005

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Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin

Genetics in medicine, 2012-11, Vol.14 (11), p.891-899

2012

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Familial Glucocorticoid Resistance Caused by a Novel Frameshift Glucocorticoid Receptor Mutation

The journal of clinical endocrinology and metabolism, 2010-12, Vol.95 (12), p.E490-E499

2010

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Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

Journal of medical genetics, 2003-04, Vol.40 (4), p.233-241

2003

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De novo GL13 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GL13 defects and overlap with murine models

Journal of medical genetics, 2002-11, Vol.39 (11), p.804-806

2002

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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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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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A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

Molecular vision, 2010-12, Vol.16, p.2916-2922

2010

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Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

Syndromic ophthalmic genetics

Delivering it: retinitis pigmentosa

Inherited Ocular Developmental Disease

Update on inherited ocular developmental disease

The genetics of corneal dystrophies

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Personalized ophthalmology

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

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

Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation

Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Missense mutations in COL8A2, the gene encoding the alpha 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

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

Identification of mutations in CUL7 in 3-M syndrome

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin

Familial Glucocorticoid Resistance Caused by a Novel Frameshift Glucocorticoid Receptor Mutation

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

De novo GL13 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GL13 defects and overlap with murine models

BIGH3 Mutation Spectrum in Corneal Dystrophies

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

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

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