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Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Genetics in medicine, 2010-10, Vol.12 (10), p.597-605

2010

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A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

American journal of human genetics, 2007-11, Vol.81 (5), p.873-883

2007

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Clinical significance of large rearrangements in BRCA1 and BRCA2

Cancer, 2012-11, Vol.118 (21), p.5210-5216

2012

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BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast‐ovarian cancer

Cancer, 2009-05, Vol.115 (10), p.2222-2233

2009

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Type V Collagen Controls the Initiation of Collagen Fibril Assembly

The Journal of biological chemistry, 2004-12, Vol.279 (51), p.53331-53337

2004

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The PREMM1,2,6 Model Predicts Risk of MLH1 , MSH2 , and MSH6 Germline Mutations Based on Cancer History

Gastroenterology (New York, N.Y. 1943), 2011-01, Vol.140 (1), p.73-81.e5

2011

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Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer

Journal of clinical oncology, 2016-05, Vol.34 (13), p.1460-1468

2016

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Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next‐generation sequencing with a 25‐gene panel

Cancer, 2015-01, Vol.121 (1), p.25-33

2015

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Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer

Journal of clinical oncology, 2017-04, Vol.35 (10), p.1086-1095

2017

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Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome

Gastroenterology (New York, N.Y. 1943), 2015-09, Vol.149 (3), p.604-613.e20

2015

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Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas

JAMA : the journal of the American Medical Association, 2012-08, Vol.308 (5), p.485

2012

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Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history

Genetics in medicine, 2018-01, Vol.20 (1), p.119-127

2018

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BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study

Genetics in medicine, 2015-07, Vol.17 (7), p.569-577

2015

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Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry

Breast cancer research and treatment, 2015-01, Vol.149 (1), p.223-227

2015

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An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi

Cancer, 2017-02, Vol.123 (4), p.617-628

2017

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Implementation of Pharmacogenetics at Cincinnati Children's Hospital Medical Center: Lessons Learned Over 14 Years of Personalizing Medicine

Clinical pharmacology and therapeutics, 2019-01, Vol.105 (1), p.49-52

2019

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ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development

Developmental dynamics, 2006-12, Vol.235 (12), p.3295-3305

2006

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Prevalence of BRCA mutations in an unselected population of triple‐negative breast cancer

Cancer, 2012-06, Vol.118 (11), p.2787-2795

2012

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Body Surface Area–based Dosing of 5-Fluoruracil Results in Extensive Interindividual Variability in 5-Fluorouracil Exposure in Colorectal Cancer Patients on FOLFOX Regimens

Clinical colorectal cancer, 2011-09, Vol.10 (3), p.203-206

2011

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Targeted Deletion of Collagen V in Tendons and Ligaments Results in a Classic Ehlers-Danlos Syndrome Joint Phenotype

The American journal of pathology, 2015-05, Vol.185 (5), p.1436-1447

2015

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Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model

Journal of cell science, 2011-12, Vol.124 (Pt 23), p.4096-4105

2011

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Diagnostic Distinction of Malignant Melanoma and Benign Nevi by a Gene Expression Signature and Correlation to Clinical Outcomes

Cancer epidemiology, biomarkers & prevention, 2017-07, Vol.26 (7), p.1107-1113

2017

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Clinical validation of a gene expression signature that differentiates benign nevi from malignant melanoma

Journal of cutaneous pathology, 2015-04, Vol.42 (4), p.244-252

2015

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Regulation of Collagen Fibril Nucleation and Initial Fibril Assembly Involves Coordinate Interactions with Collagens V and XI in Developing Tendon

The Journal of biological chemistry, 2011-06, Vol.286 (23), p.20455-20465

2011

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Community Practice Implementation of a Self-administered Version of PREMM1,2,6 to Assess Risk for Lynch Syndrome

Clinical gastroenterology and hepatology, 2018-01, Vol.16 (1), p.49-58

2018

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Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

Clinical significance of large rearrangements in BRCA1 and BRCA2

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast‐ovarian cancer

Type V Collagen Controls the Initiation of Collagen Fibril Assembly

The PREMM1,2,6 Model Predicts Risk of MLH1 , MSH2 , and MSH6 Germline Mutations Based on Cancer History

Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next‐generation sequencing with a 25‐gene panel

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome

Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas

Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history

BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study

Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry

An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi

Implementation of Pharmacogenetics at Cincinnati Children's Hospital Medical Center: Lessons Learned Over 14 Years of Personalizing Medicine

ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development

Prevalence of BRCA mutations in an unselected population of triple‐negative breast cancer

Body Surface Area–based Dosing of 5-Fluoruracil Results in Extensive Interindividual Variability in 5-Fluorouracil Exposure in Colorectal Cancer Patients on FOLFOX Regimens

Targeted Deletion of Collagen V in Tendons and Ligaments Results in a Classic Ehlers-Danlos Syndrome Joint Phenotype

Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model

Diagnostic Distinction of Malignant Melanoma and Benign Nevi by a Gene Expression Signature and Correlation to Clinical Outcomes

Clinical validation of a gene expression signature that differentiates benign nevi from malignant melanoma

Regulation of Collagen Fibril Nucleation and Initial Fibril Assembly Involves Coordinate Interactions with Collagens V and XI in Developing Tendon

Community Practice Implementation of a Self-administered Version of PREMM1,2,6 to Assess Risk for Lynch Syndrome

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