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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

PLoS genetics, 2009-09, Vol.5 (9), p.e1000649

2009

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Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

Journal of allergy and clinical immunology, 2008-07, Vol.122 (1), p.181-187

2008

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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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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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KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

Brain (London, England : 1878), 2003-12, Vol.126 (12), p.2726-2737

2003

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Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization

The Journal of physiology, 2008-07, Vol.586 (14), p.3405-3423

2008

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Carriers of Rare Missense Variants in IFIH1 Are Protected from Psoriasis

Journal of investigative dermatology, 2010-12, Vol.130 (12), p.2768-2772

2010

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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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Genome-wide linkage in Utah autism pedigrees

Molecular psychiatry, 2010-10, Vol.15 (10), p.1006-1015

2010

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Health Related Quality of Life and Device-Acceptance in Patients with Implantable Cardioverter-Defibrillators and Telemonitoring

Value in health, 2013-11, Vol.16 (7), p.A535-A535

2013

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The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer

Gastroenterology (New York, N.Y. 1943), 2001-10, Vol.121 (4), p.830-838

2001

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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

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Absence of TGFBR1 and TGFBR2 Mutations in Patients With Bicuspid Aortic Valve and Aortic Dilation

The American journal of cardiology, 2008-09, Vol.102 (5), p.629-631

2008

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Acceptance Of Telemonitoring By Health Care Professionals in Germany: A Question Of Financial Conditions

Value in health, 2014-11, Vol.17 (7), p.A422-A423

2014

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A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis

Human molecular genetics, 2018-07, Vol.27 (13), p.2383-2391

2018

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Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis

Gastroenterology (New York, N.Y. 1943), 2004-08, Vol.127 (2), p.444-451

2004

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PCN47 Cost-of-Illness of Common Cancer Types - Results of a Health Insurance Claims Data Analysis

Value in health, 2012-11, Vol.15 (7), p.A417-A417

2012

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Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

Journal of allergy and clinical immunology, 2008-07, Vol.122 (1), p.181-187

2008

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Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

The American journal of cardiology, 1993-07, Vol.72 (2), p.171-176

1993

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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

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Germline mutation rates in young adults predict longevity and reproductive lifespan

Scientific reports, 2020-06, Vol.10 (1), p.10001-10001, Article 10001

2020

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PHP136 - Big Data In Healthcare - Opportunities And Challenges

Value in health, 2016-11, Vol.19 (7), p.A463-A463

2016

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Big Data In Healthcare - Opportunities And Challenges

Value in health, 2016-11, Vol.19 (7), p.A463-A463

2016

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AGT Genetic Variation, Plasma AGT, and Blood Pressure: An Analysis of the Utah Genetic Reference Project Pedigrees

American journal of hypertension, 2010-08, Vol.23 (8), p.917-923

2010

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A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis

Human molecular genetics, 2018-07, Vol.27 (13), p.2406-2406

2018

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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

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

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

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization

Carriers of Rare Missense Variants in IFIH1 Are Protected from Psoriasis

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

Genome-wide linkage in Utah autism pedigrees

Health Related Quality of Life and Device-Acceptance in Patients with Implantable Cardioverter-Defibrillators and Telemonitoring

The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer

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

Absence of TGFBR1 and TGFBR2 Mutations in Patients With Bicuspid Aortic Valve and Aortic Dilation

Acceptance Of Telemonitoring By Health Care Professionals in Germany: A Question Of Financial Conditions

A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis

Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis

PCN47 Cost-of-Illness of Common Cancer Types - Results of a Health Insurance Claims Data Analysis

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

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

Germline mutation rates in young adults predict longevity and reproductive lifespan

PHP136 - Big Data In Healthcare - Opportunities And Challenges

Big Data In Healthcare - Opportunities And Challenges

AGT Genetic Variation, Plasma AGT, and Blood Pressure: An Analysis of the Utah Genetic Reference Project Pedigrees

A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis

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