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Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

artículo científico publicado en 2017

CHRNB3 is more strongly associated with Fagerström test for cigarette dependence-based nicotine dependence than cigarettes per day: phenotype definition changes genome-wide association studies results

artículo científico publicado en 2012

Characterizing genetic variants for clinical action

artículo científico publicado en 2014

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

article

Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium

artículo científico publicado en 2010

Ethical and practical challenges of sharing data from genome-wide association studies: the eMERGE Consortium experience

artículo científico publicado en 2011

Finding the missing heritability of complex diseases

artículo científico publicado en 2009

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers

artículo científico publicado en 2012

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

artículo científico publicado en 2009

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

artículo científico publicado en 2012

Using ClinVar as a Resource to Support Variant Interpretation

artículo científico publicado en 2016

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