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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

artículo científico publicado en 2016

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management

scientific article published on 31 May 2019

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

scientific article published on 21 August 2018

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

article

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

artículo científico publicado en 2009

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

artículo científico publicado en 2015

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

artículo científico publicado en 2016

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

artículo científico publicado en 2016

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

scientific article published on March 2009

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