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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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Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

Ophthalmology (Rochester, Minn.), 2014-06, Vol.121 (6), p.1174-1184

2014

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Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma

PloS one, 2014-08, Vol.9 (8), p.e104000

2014

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The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients

Ophthalmology (Rochester, Minn.), 2013-11, Vol.120 (11), p.2324-2331

2013

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A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

American journal of ophthalmology, 2013-06, Vol.155 (6), p.1075-1088.e13

2013

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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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Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q

European journal of human genetics : EJHG, 2003-10, Vol.11 (10), p.784-793

2003

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A novel α-synuclein missense mutation in Parkinson disease

Neurology, 2013-03, Vol.80 (11), p.1062

2013

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Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy

PloS one, 2012-03, Vol.7 (3), p.e32330-e32330

2012

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Refractive Defects and Cataracts in Mice Lacking Lens Intrinsic Membrane Protein-2

Investigative ophthalmology & visual science, 2007-02, Vol.48 (2), p.500-508

2007

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NMNAT1 mutations cause Leber congenital amaurosis

Nature genetics, 2012-09, Vol.44 (9), p.1040-1045

2012

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RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

Human mutation, 2013-03, Vol.34 (3), p.506-514

2013

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Focus on Molecules: Cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2)

Experimental eye research, 2012-09, Vol.102, p.111-112

2012

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Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction

JAMA ophthalmology, 2016-09, Vol.134 (9), p.1049

2016

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Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

Human genomics, 2014-11, Vol.8 (1), p.19-19

2014

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A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity

Human mutation, 2014-03, Vol.35 (3), p.289-293

2014

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Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1

British journal of ophthalmology, 2011-06, Vol.95 (6), p.811-817

2011

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Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study

Investigative ophthalmology & visual science, 2012-06, Vol.53 (7), p.3927-3938

2012

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RDH12 retinopathy: novel mutations and phenotypic description

Molecular vision, 2011-10, Vol.17, p.2706-2716

2011

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Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

Molecular vision, 2010-03, Vol.16, p.369-377

2010

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Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations

Investigative ophthalmology & visual science, 2011-05, Vol.52 (6), p.3032-3038

2011

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A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q

American journal of human genetics, 2002-11, Vol.71 (5), p.1216-1221

2002

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SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

Human molecular genetics, 2007-10, Vol.16 (20), p.2482-2493

2007

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Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans

Molecular vision, 2010-01, Vol.16, p.46-52

2010

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A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy

Molecular vision, 2010-03, Vol.16, p.540-548

2010

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

Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma

The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients

A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

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

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q

A novel α-synuclein missense mutation in Parkinson disease

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy

Refractive Defects and Cataracts in Mice Lacking Lens Intrinsic Membrane Protein-2

NMNAT1 mutations cause Leber congenital amaurosis

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

Focus on Molecules: Cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2)

Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study

RDH12 retinopathy: novel mutations and phenotypic description

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations

A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy

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