Lista de obras -

1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child

artículo científico publicado en 2010

A Review of the Hereditary Component of Triple Negative Breast Cancer: High- and Moderate-Penetrance Breast Cancer Genes, Low-Penetrance Loci, and the Role of Nontraditional Genetic Elements

artículo científico publicado en 2019

Cancer Previvors in an Active Duty Service Women Population: An Opportunity for Prevention and Increased Force Readiness

artículo científico publicado en 2020

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes

artículo científico publicado en 2011

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

artículo científico publicado en 2019

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

artículo científico publicado en 2016

Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple ⬇️

artículo científico publicado el 4 de marzo de 2013

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

artículo científico publicado en 2017

Exercise Dose Associated With Military Service: Implications for the Clinical Management of Inherited Risk for Arrhythmogenic Right Ventricular Cardiomyopathy

artículo científico publicado en 2020

Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer

artículo científico publicado en 2020

Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

artículo científico publicado en 2017

From Discovery to Practice and Survivorship: Building a National Real-World Data Learning Healthcare Framework for Military and Veteran Cancer Patients

artículo científico publicado en 2019

Genomic medicine in the military

artículo científico publicado en 2016

Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes

artículo científico publicado en 2022

Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?

scientific article published on 08 December 2020

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up

artículo científico publicado en 2015

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

artículo científico publicado en 2003

Hypogammaglobulinemia and impaired antibody response in a child with chromosome 2p15-16.1 microdeletion syndrome

artículo científico publicado en 2015

Management of Incidental Findings in the Era of Next-generation Sequencing

artículo científico publicado en 2015

Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services

artículo científico publicado en 2017

Molecularly defined interstitial tandem duplication 6p case with mild manifestations ⬇️

artículo científico publicado el 1 de noviembre de 2001

Patient-centered care and genomic medicine: A qualitative provider study in the military health system

scientific article published on 26 June 2019

Return of secondary findings in genomic sequencing: Military implications

artículo científico publicado en 2019

Should Genetic Testing for Cancer Predisposition Be Standard-of-Care for Women with Invasive Breast Cancer? The Murtha Cancer Center Experience

scientific article published on 17 January 2020

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

artículo científico publicado en 2009

Toward Personalized Medicine Implementation: Survey of Military Medicine Providers in the Area of Pharmacogenomics

scientific article published on 01 March 2020

Trisomy 9 mosaicism and XX sex reversal

scientific article published on 01 November 2007

Lista de obras de

1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child

A Review of the Hereditary Component of Triple Negative Breast Cancer: High- and Moderate-Penetrance Breast Cancer Genes, Low-Penetrance Loci, and the Role of Nontraditional Genetic Elements

Cancer Previvors in an Active Duty Service Women Population: An Opportunity for Prevention and Increased Force Readiness

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple ⬇️

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Exercise Dose Associated With Military Service: Implications for the Clinical Management of Inherited Risk for Arrhythmogenic Right Ventricular Cardiomyopathy

Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer

Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

From Discovery to Practice and Survivorship: Building a National Real-World Data Learning Healthcare Framework for Military and Veteran Cancer Patients

Genomic medicine in the military

Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes

Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

Hypogammaglobulinemia and impaired antibody response in a child with chromosome 2p15-16.1 microdeletion syndrome

Management of Incidental Findings in the Era of Next-generation Sequencing

Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services

Molecularly defined interstitial tandem duplication 6p case with mild manifestations ⬇️

Patient-centered care and genomic medicine: A qualitative provider study in the military health system

Return of secondary findings in genomic sequencing: Military implications

Should Genetic Testing for Cancer Predisposition Be Standard-of-Care for Women with Invasive Breast Cancer? The Murtha Cancer Center Experience

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

Toward Personalized Medicine Implementation: Survey of Military Medicine Providers in the Area of Pharmacogenomics

Trisomy 9 mosaicism and XX sex reversal