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Examination of AVPR1a as an autism susceptibility gene

Molecular psychiatry, 2004-10, Vol.9 (10), p.968-972

2004

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Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination

American journal of human genetics, 1998-09, Vol.63 (3), p.861-869

1998

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Pax6 3′ deletion results in aniridia, autism and mental retardation

Human genetics, 2008-05, Vol.123 (4), p.371-378

2008

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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Nature genetics, 1997-12, Vol.17 (4), p.411-422

1997

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Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different Populations

Human molecular genetics, 1999-05, Vol.8 (5), p.899-905

1999

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Mutation of a nuclear receptor gene, NR2E3 , causes enhanced S cone syndrome, a disorder of retinal cell fate

Nature genetics, 2000-02, Vol.24 (2), p.127-131

2000

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Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness

JAMA : the journal of the American Medical Association, 1999-06, Vol.281 (23), p.2211

1999

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Identification of a Gene That Causes Primary Open Angle Glaucoma

Science (American Association for the Advancement of Science), 1997-01, Vol.275 (5300), p.668-670

1997

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A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Nature genetics, 1999-06, Vol.22 (2), p.199-202

1999

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The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

Nature genetics, 1998-06, Vol.19 (2), p.140-147

1998

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Bardet-Biedl Syndrome Type 4 (BBS4)-Null Mice Implicate Bbs4 in Flagella Formation but Not Global Cilia Assembly

Proceedings of the National Academy of Sciences - PNAS, 2004-06, Vol.101 (23), p.8664-8669

2004

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Missense Variations in the Fibulin 5 Gene and Age-Related Macular Degeneration

The New England journal of medicine, 2004-07, Vol.351 (4), p.346-353

2004

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A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye

American journal of human genetics, 2001-02, Vol.68 (2), p.364-372

2001

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Mice defective in Trpm6 show embryonic mortality and neural tube defects

Human molecular genetics, 2009-11, Vol.18 (22), p.4367-4375

2009

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Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene (GLC1A)

The New England journal of medicine, 1998-04, Vol.338 (15), p.1022-1027

1998

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Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)

American journal of human genetics, 2004-09, Vol.75 (3), p.475-484

2004

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An Analysis of Allelic Variation in the ABCA4 Gene

Investigative ophthalmology & visual science, 2001-05, Vol.42 (6), p.1179-1189

2001

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Physicians' Use of and Attitudes Toward Electronic Mail for Patient Communication

Journal of general internal medicine : JGIM, 2003-05, Vol.18 (5), p.385-389

2003

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De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

Nature genetics, 1998-04, Vol.18 (4), p.311-312

1998

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Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

Human molecular genetics, 2003-05, Vol.12 (9), p.1073-1078

2003

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Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

Nature genetics, 1998-12, Vol.20 (4), p.328-329

1998

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Glucocorticoid Induction of the Glaucoma Gene MYOC in Human and Monkey Trabecular Meshwork Cells and Tissues

Investigative ophthalmology & visual science, 2001-07, Vol.42 (8), p.1769-1780

2001

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Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)

Human molecular genetics, 2000-07, Vol.9 (11), p.1709-1715

2000

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The Nuclear Receptor NR2E3 Plays a Role in Human Retinal Photoreceptor Differentiation and Degeneration

Proceedings of the National Academy of Sciences - PNAS, 2002-01, Vol.99 (1), p.473-478

2002

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Attachment of a 40-Base-Pair G+C-Rich Sequence (GC-Clamp) to Genomic DNA Fragments by the Polymerase Chain Reaction Results in Improved Detection of Single-Base Changes

Proceedings of the National Academy of Sciences - PNAS, 1989-01, Vol.86 (1), p.232-236

1989

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Examination of AVPR1a as an autism susceptibility gene

Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination

Pax6 3′ deletion results in aniridia, autism and mental retardation

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different Populations

Mutation of a nuclear receptor gene, NR2E3 , causes enhanced S cone syndrome, a disorder of retinal cell fate

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness

Identification of a Gene That Causes Primary Open Angle Glaucoma

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

Bardet-Biedl Syndrome Type 4 (BBS4)-Null Mice Implicate Bbs4 in Flagella Formation but Not Global Cilia Assembly

Missense Variations in the Fibulin 5 Gene and Age-Related Macular Degeneration

A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye

Mice defective in Trpm6 show embryonic mortality and neural tube defects

Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene (GLC1A)

Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)

An Analysis of Allelic Variation in the ABCA4 Gene

Physicians' Use of and Attitudes Toward Electronic Mail for Patient Communication

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

Glucocorticoid Induction of the Glaucoma Gene MYOC in Human and Monkey Trabecular Meshwork Cells and Tissues

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)

The Nuclear Receptor NR2E3 Plays a Role in Human Retinal Photoreceptor Differentiation and Degeneration

Attachment of a 40-Base-Pair G+C-Rich Sequence (GC-Clamp) to Genomic DNA Fragments by the Polymerase Chain Reaction Results in Improved Detection of Single-Base Changes

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