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A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes

American journal of human genetics, 2007-02, Vol.80 (2), p.273-290

2007

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A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction

PLoS genetics, 2008-07, Vol.4 (7), p.e1000125-e1000125

2008

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Using Genetics to Examine a General Liability to Childhood Psychopathology

Behavior genetics, 2020-07, Vol.50 (4), p.213-220

2020

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A novel potassium channel gene, KCNQ2 , is mutated in an inherited epilepsy of newborns

Nature genetics, 1998-01, Vol.18 (1), p.25-29

1998

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Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms

Human molecular genetics, 2010-04, Vol.19 (7), p.1286-1301

2010

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A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia

American journal of medical genetics. Part A, 2012-12, Vol.158A (12), p.3137-3147

2012

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Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

Molecular autism, 2014-01, Vol.5 (1), p.5-5, Article 5

2014

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Common variant of human NEDD4L activates a cryptic splice site to form a frameshifted transcript

Journal of human genetics, 2002-12, Vol.47 (12), p.665-676

2002

Volltextzugriff (PDF)

Exome analysis of a family with pleiotropic congenital heart disease

Circulation. Cardiovascular genetics, 2012-04, Vol.5 (2), p.175

2012

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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

Nature genetics, 1998-01, Vol.18 (1), p.53-55

1998

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Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4) : Clinical description and genetic localization to chromosome 16q22.1

American journal of human genetics, 1996-08, Vol.59 (2), p.392-399

1996

Volltextzugriff (PDF)

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.2975-2984

2015

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Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

American journal of human genetics, 2010-05, Vol.86 (5), p.707-718

2010

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Variants in the 5q31 cytokine gene cluster are associated with psoriasis

Genes and immunity, 2008-03, Vol.9 (2), p.176-181

2008

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Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p

Human genetics, 2003-05, Vol.112 (5-6), p.567-572

2003

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Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia

American journal of human genetics, 1998-02, Vol.62 (2), p.325-333

1998

Volltextzugriff (PDF)

Colorectal adenomas and cancer link to chromosome 13q22.1–13q31.3 in a large family with excess colorectal cancer

Journal of medical genetics, 2010-10, Vol.47 (10), p.692-699

2010

Volltextzugriff (PDF)

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

Nature genetics, 1997-03, Vol.15 (3), p.236-246

1997

Volltextzugriff (PDF)

Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1519-1522

2015

Volltextzugriff (PDF)

Linkage analysis of Tourette syndrome in a large utah pedigree

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-03, Vol.153B (2), p.656-662

2010

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The 5q31 variants associated with psoriasis and Crohn's disease are distinct

Human molecular genetics, 2008-10, Vol.17 (19), p.2978-2985

2008

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Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families

American journal of human genetics, 2007-02, Vol.80 (2), p.265-272

Anon

2007

Volltextzugriff (PDF)

Quantitative-Trait Loci Influencing Body-Mass Index Reside on Chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study

American journal of human genetics, 2002-01, Vol.70 (1), p.72-82

2002

Volltextzugriff (PDF)

Genetic Mapping of Ossification of the Posterior Longitudinal Ligament of the Spine

American journal of human genetics, 1998-06, Vol.62 (6), p.1460-1467

1998

Volltextzugriff (PDF)

Detailed genetic characterization of the interleukin-23 receptor in psoriasis

Genes and immunity, 2008-09, Vol.9 (6), p.546-555

2008

Volltextzugriff (PDF)

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A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes

A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction

Using Genetics to Examine a General Liability to Childhood Psychopathology

A novel potassium channel gene, KCNQ2 , is mutated in an inherited epilepsy of newborns

Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms

A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

Common variant of human NEDD4L activates a cryptic splice site to form a frameshifted transcript

Exome analysis of a family with pleiotropic congenital heart disease

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4) : Clinical description and genetic localization to chromosome 16q22.1

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

Variants in the 5q31 cytokine gene cluster are associated with psoriasis

Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p

Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia

Colorectal adenomas and cancer link to chromosome 13q22.1–13q31.3 in a large family with excess colorectal cancer

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis

Linkage analysis of Tourette syndrome in a large utah pedigree

The 5q31 variants associated with psoriasis and Crohn's disease are distinct

Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families

Quantitative-Trait Loci Influencing Body-Mass Index Reside on Chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study

Genetic Mapping of Ossification of the Posterior Longitudinal Ligament of the Spine

Detailed genetic characterization of the interleukin-23 receptor in psoriasis

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