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Evidence for HTR1A and LHPP as interacting genetic risk factors in major depression

Molecular psychiatry, 2009-06, Vol.14 (6), p.621-630

2009

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Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

Journal of medical genetics, 2004-07, Vol.41 (7), p.492-507

2004

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A Cell Cycle Regulator Potentially Involved in Genesis of Many Tumor Types

Science (American Association for the Advancement of Science), 1994-04, Vol.264 (5157), p.436-440

1994

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Analysis of the p16 gene ( CDKN2 ) as a candidate for the chromosome 9p melanoma susceptibility locus

Nature genetics, 1994-09, Vol.8 (1), p.22-26

1994

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Systematic Population-Based Assessment of Cancer Risk in First-Degree Relatives of Cancer Probands

JNCI : Journal of the National Cancer Institute, 1994-11, Vol.86 (21), p.1600-1608

1994

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Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families : Results of an international study

American journal of human genetics, 1996-02, Vol.58 (2), p.271-280

1996

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Prostate Cancer Susceptibility Locus HPC1 in Utah High-Risk Pedigrees

Human molecular genetics, 1999-12, Vol.8 (13), p.2437-2442

1999

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A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

Human genetics, 2004-03, Vol.114 (4), p.349-353

2004

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Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred

Arteriosclerosis, thrombosis, and vascular biology, 2000-04, Vol.20 (4), p.1089-1093

2000

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Identification of a 14 kb Deletion Involving the Promoter Region of BRCA1 in a Breast Cancer Family

Human molecular genetics, 1997-09, Vol.6 (9), p.1513-1517

1997

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Variants in Apaf-1 segregating with major depression promote apoptosome function

Molecular psychiatry, 2006-01, Vol.11 (1), p.76-85

2006

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Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

Science (American Association for the Advancement of Science), 1990-06, Vol.248 (4960), p.1224-1227

1990

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Low incidence of BRCA2 mutations in breast carcinoma and other cancers

Nature genetics, 1996-06, Vol.13 (2), p.241-244

1996

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Familiality of cancer in Utah

Cancer research (Chicago, Ill.), 1994-05, Vol.54 (9), p.2378-2385

1994

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Comparison of BRCA1 Polymorphisms, Rare Sequence Variants and/or Missense Mutations in Unaffected and Breast/Ovarian Cancer Populations

Human molecular genetics, 1996-06, Vol.5 (6), p.835-842

1996

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A Large Kindred With 17q-Linked Breast and Ovarian Cancer: Genetic, Phenotypic, and Genealogical Analysis

JNCI : Journal of the National Cancer Institute, 1994-02, Vol.86 (3), p.200-209

1994

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Prevalence of hemochromatosis among 11,065 presumably healthy blood donors

The New England journal of medicine, 1988-05, Vol.318 (21), p.1355-1362

1988

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CDKN2 (MTS1) tumor suppressor gene mutations in human tumor cell lines

Oncogene, 1995-03, Vol.10 (6), p.1061-1067

1995

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The incidence and gene frequency of Ataxia-telangiectasia in the United States

American journal of human genetics, 1986-11, Vol.39 (5), p.573-583

1986

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Genomic DNA pooling for whole-genome association scans in complex disease: empirical demonstration of efficacy in rheumatoid arthritis

Genes and immunity, 2007-01, Vol.8 (1), p.57-68

2007

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Interobserver concordance in discriminating clinical atypia of melanocytic nevi, and correlations with histologic atypia

Journal of the American Academy of Dermatology, 1996-04, Vol.34 (4), p.618-625

1996

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Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk

Journal of clinical oncology, 1998-07, Vol.16 (7), p.2417-2425

1998

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Penetrance and expressivity of the chromosome 9p melanoma susceptibility locus (MLM)

Cancer research (Chicago, Ill.), 1994-12, Vol.54 (23), p.6041-6044

1994

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BRCA1 Mutations in Primary Breast and Ovarian Carcinomas

Science (American Association for the Advancement of Science), 1994-10, Vol.266 (5182), p.120-122

1994

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The future of DNA diagnostics

Disease markers, 1999-10, Vol.15 (1-3), p.106-107

SKOLNICK, M. H

1999

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Evidence for HTR1A and LHPP as interacting genetic risk factors in major depression

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

A Cell Cycle Regulator Potentially Involved in Genesis of Many Tumor Types

Analysis of the p16 gene ( CDKN2 ) as a candidate for the chromosome 9p melanoma susceptibility locus

Systematic Population-Based Assessment of Cancer Risk in First-Degree Relatives of Cancer Probands

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families : Results of an international study

Prostate Cancer Susceptibility Locus HPC1 in Utah High-Risk Pedigrees

A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred

Identification of a 14 kb Deletion Involving the Promoter Region of BRCA1 in a Breast Cancer Family

Variants in Apaf-1 segregating with major depression promote apoptosome function

Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

Low incidence of BRCA2 mutations in breast carcinoma and other cancers

Familiality of cancer in Utah

Comparison of BRCA1 Polymorphisms, Rare Sequence Variants and/or Missense Mutations in Unaffected and Breast/Ovarian Cancer Populations

A Large Kindred With 17q-Linked Breast and Ovarian Cancer: Genetic, Phenotypic, and Genealogical Analysis

Prevalence of hemochromatosis among 11,065 presumably healthy blood donors

CDKN2 (MTS1) tumor suppressor gene mutations in human tumor cell lines

The incidence and gene frequency of Ataxia-telangiectasia in the United States

Genomic DNA pooling for whole-genome association scans in complex disease: empirical demonstration of efficacy in rheumatoid arthritis

Interobserver concordance in discriminating clinical atypia of melanocytic nevi, and correlations with histologic atypia

Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk

Penetrance and expressivity of the chromosome 9p melanoma susceptibility locus (MLM)

BRCA1 Mutations in Primary Breast and Ovarian Carcinomas

The future of DNA diagnostics

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