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Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

American journal of human genetics, 2007-08, Vol.81 (2), p.292-303

2007

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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Proceedings of the National Academy of Sciences - PNAS, 2015-06, Vol.112 (25), p.E3236-E3245

2015

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Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

American journal of human genetics, 2009-11, Vol.85 (5), p.581-592

2009

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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 PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

American journal of human genetics, 2011-06, Vol.88 (6), p.767-777

2011

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The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

American journal of human genetics, 2009-06, Vol.84 (6), p.801-806

2009

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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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Brittle cornea syndrome: recognition, molecular diagnosis and management

Orphanet journal of rare diseases, 2013-05, Vol.8 (1), p.68-68, Article 68

2013

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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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Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

Human mutation, 2008-08, Vol.29 (8), p.1017-1027

2008

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Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination

Human molecular genetics, 2007-07, Vol.16 (14), p.1773-1782

2007

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Cerebellar hypoplasia and Cohen syndrome: A confirmed association

American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2390-2393

2010

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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Molecular genetics and metabolism, 2013-07, Vol.109 (3), p.289-295

2013

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Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy

Investigative ophthalmology & visual science, 2011-06, Vol.52 (6), p.3730-3736

2011

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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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Developmental and Tissue Expression of Xenopus laevis RPGR

Investigative ophthalmology & visual science, 2006-01, Vol.47 (1), p.348-356

2006

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Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2

Investigative ophthalmology & visual science, 2011-10, Vol.52 (11), p.7859-7865

2011

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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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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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Evidence of Genetic Heterogeneity in MRCS (Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma) Syndrome

American journal of ophthalmology, 2006-02, Vol.141 (2), p.418-420

2006

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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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Sequence of the gene encoding flavocytochrome c from Shewanella putrefaciens: a tetraheme flavoenzyme that is a soluble fumarate reductase related to the membrane-bound enzymes from other bacteria

Biochemistry (Easton), 1992-12, Vol.31 (48), p.12132-12140

1992

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

American journal of human genetics, 2011-08, Vol.89 (2), p.346-346

2011

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Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C20RF71

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

2010

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Inherited eye disease: cause and late effect

Trends in molecular medicine, 2005-10, Vol.11 (10), p.449-455

2005

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Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

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

Brittle cornea syndrome: recognition, molecular diagnosis and management

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

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination

Cerebellar hypoplasia and Cohen syndrome: A confirmed association

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

Developmental and Tissue Expression of Xenopus laevis RPGR

Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2

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

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

Evidence of Genetic Heterogeneity in MRCS (Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma) Syndrome

Childhood-onset autosomal recessive bestrophinopathy

Sequence of the gene encoding flavocytochrome c from Shewanella putrefaciens: a tetraheme flavoenzyme that is a soluble fumarate reductase related to the membrane-bound enzymes from other bacteria

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C20RF71

Inherited eye disease: cause and late effect

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