List of works - Bradford C Powell

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

scientific article published on 13 August 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

scientific article published in February 2018

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

scientific article published on 16 November 2017

ClinGen Allele Registry links information about genetic variants

scientific article published in November 2018

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

scientific article published on 12 January 2017

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

article by Neethu Shah et al published April 2021 in Molecular Genetics and Metabolism

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

scientific article published on 07 October 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.

scientific article

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

scientific article

Finding the Rare Pathogenic Variants in a Human Genome

scientific article published on 01 May 2017

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

scientific article published on 14 August 2020

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

scientific article published on December 19, 2012

Newborn Sequencing in Genomic Medicine and Public Health

scientific article

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

scientific article published on 22 February 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

scientific article published on 18 May 2017

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

scientific article published on 11 January 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

scientific article published on 04 August 2020

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

scientific article

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

scientific article published on 01 September 2018

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

scientific article published on 26 October 2017

Tracking the evolution of alternatively spliced exons within the Dscam family

scientific article

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

scientific article published on 15 October 2020

List of works by Bradford C Powell

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