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A genome-wide search for type 2 diabetes susceptibility genes in Utah Caucasians

Diabetes (New York, N.Y.), 1999-05, Vol.48 (5), p.1175

1999

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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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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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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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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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BAT-26 and BAT-40 Instability in Colorectal Adenomas and Carcinomas and Germline Polymorphisms

The American journal of pathology, 1999-06, Vol.154 (6), p.1637-1641

1999

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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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The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

Cell, 1993-04, Vol.73 (1), p.159-168

1993

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Multivariate characterization of white matter heterogeneity in autism spectrum disorder

NeuroImage clinical, 2017-01, Vol.14 (C), p.54-66

2017

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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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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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Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

Neuron (Cambridge, Mass.), 1992-05, Vol.8 (5), p.891-897

1992

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Inverse Relationship between Microsatellite Instability and K- ras and p53 Gene Alterations in Colon Cancer

The American journal of pathology, 2001-04, Vol.158 (4), p.1517-1524

2001

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Prognostic significance of p53 mutations in colon cancer at the population level

International journal of cancer, 2002-06, Vol.99 (4), p.597-602

2002

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Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia : evidence for locus heterogeneity

American journal of human genetics, 1993-07, Vol.53 (1), p.193-200

1993

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Associations between phenylthiocarbamide gene polymorphisms and cigarette smoking

Nicotine & tobacco research, 2005-12, Vol.7 (6), p.853-858

2005

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Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

Neurology, 1994-08, Vol.44 (8), p.1500

1994

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Bloom Syndrome: An Analysis of Consanguineous Families Assigns the Locus Mutated to Chromosome Band 15q26.1

Proceedings of the National Academy of Sciences - PNAS, 1994-07, Vol.91 (14), p.6669-6673

1994

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Genetic screening of candidate genes for a prothrombotic interaction with type I protein C deficiency in a large kindred

Thrombosis and haemostasis, 2001-01, Vol.85 (1), p.82

2001

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Detailed genetic characterization of the interleukin-23 receptor in psoriasis

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

2008

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Allogeneic hematopoietic cell transplantation for metastatic renal cell carcinoma after nonmyeloablative conditioning: Toxicity, clinical response, and immunological response to minor histocompatibility antigens

Clinical cancer research, 2004-12, Vol.10 (23), p.7799-7811

2004

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Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

Annals of neurology, 1993-03, Vol.33 (3), p.300-307

1993

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Genetic Heterogeneity in Familial Acute Myelogenous Leukemia: Evidence for a Second Locus at Chromosome 16q21-23.2

American journal of human genetics, 1997-10, Vol.61 (4), p.873-881

1997

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Recessive Inheritance of Obesity in Familial Non—Insulin-Dependent Diabetes Mellitus, and Lack of Linkage to Nine Candidate Genes

American journal of human genetics, 1997-09, Vol.61 (3), p.668-677

1997

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Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy

Neuromuscular disorders : NMD, 2001-09, Vol.11 (6), p.525-529

2001

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A genome-wide search for type 2 diabetes susceptibility genes in Utah Caucasians

Genome-wide linkage in Utah autism pedigrees

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

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

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

BAT-26 and BAT-40 Instability in Colorectal Adenomas and Carcinomas and Germline Polymorphisms

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

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

Multivariate characterization of white matter heterogeneity in autism spectrum disorder

The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer

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

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

Inverse Relationship between Microsatellite Instability and K- ras and p53 Gene Alterations in Colon Cancer

Prognostic significance of p53 mutations in colon cancer at the population level

Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia : evidence for locus heterogeneity

Associations between phenylthiocarbamide gene polymorphisms and cigarette smoking

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

Bloom Syndrome: An Analysis of Consanguineous Families Assigns the Locus Mutated to Chromosome Band 15q26.1

Genetic screening of candidate genes for a prothrombotic interaction with type I protein C deficiency in a large kindred

Detailed genetic characterization of the interleukin-23 receptor in psoriasis

Allogeneic hematopoietic cell transplantation for metastatic renal cell carcinoma after nonmyeloablative conditioning: Toxicity, clinical response, and immunological response to minor histocompatibility antigens

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

Genetic Heterogeneity in Familial Acute Myelogenous Leukemia: Evidence for a Second Locus at Chromosome 16q21-23.2

Recessive Inheritance of Obesity in Familial Non—Insulin-Dependent Diabetes Mellitus, and Lack of Linkage to Nine Candidate Genes

Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy

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