Lista de obras -

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

artículo científico publicado en 2015

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

scientific article published on 07 March 2019

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

scientific article published on 24 January 2020

Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings

artículo científico publicado en 2018

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

artículo científico publicado en 2017

ClinGen Allele Registry links information about genetic variants

artículo científico publicado en 2018

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

artículo científico publicado en 2017

ClinGen curation tools, web services and repository for clinical actionability assertions and supporting evidence

artículo científico

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

scientific article published on 29 November 2019

Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

scientific article published on 18 June 2020

Current Tools, Databases, and Resources for Phenotype and Variant Analysis of Clinical Exome Sequencing

artículo científico publicado en 2021

Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol.

artículo científico publicado en 2018

Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings.

artículo científico publicado en 2018

Finding the Rare Pathogenic Variants in a Human Genome

artículo científico publicado en 2017

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

artículo científico publicado en 2020

Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing ⬇️

artículo científico publicado el 19 de diciembre de 2012

Newborn Sequencing in Genomic Medicine and Public Health

artículo científico publicado en 2017

Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs

artículo científico publicado en 2016

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

scientific article published in 2021

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

artículo científico publicado en 2017

Purified Bacillus anthracis lethal toxin complex formed in vitro and during infection exhibits functional and biological activity

artículo científico publicado en 2005

Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty

scientific article published on 22 January 2020

Rosai-Dorfman Disease and Exocrine Pancreatic Insufficiency in a Patient With a Germline SLC29A3 Mutation

artículo científico publicado en 2020

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

artículo científico publicado en 2020

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations

artículo científico publicado en 2018

The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study

artículo científico publicado en 2017

Tracking the evolution of alternatively spliced exons within the Dscam family

artículo científico publicado en 2006

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

artículo científico publicado en 2020

Lista de obras de

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

ClinGen Allele Registry links information about genetic variants

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

ClinGen curation tools, web services and repository for clinical actionability assertions and supporting evidence

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

Current Tools, Databases, and Resources for Phenotype and Variant Analysis of Clinical Exome Sequencing

Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol.

Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings.

Finding the Rare Pathogenic Variants in a Human Genome

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing ⬇️

Newborn Sequencing in Genomic Medicine and Public Health

Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

Purified Bacillus anthracis lethal toxin complex formed in vitro and during infection exhibits functional and biological activity

Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty

Rosai-Dorfman Disease and Exocrine Pancreatic Insufficiency in a Patient With a Germline SLC29A3 Mutation

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations

The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study

Tracking the evolution of alternatively spliced exons within the Dscam family

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies