Bradford C. Powell

Medical Genetics | Pediatrics

5078 Genetic Medicine Bldg
Campus Box 7264
Chapel Hill, NC 27599

Last Updated: 09/26/2026

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Found 46 publications

Determinants of DNA-sequence-based Diagnostic Yield in the CSER Consortium.

Determinants of DNA-sequence-based Diagnostic Yield in the CSER Consortium.

Journal: medRxiv : the preprint server for health sciences

Published: May 04, 2026

Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?

Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?

Journal: HGG advances

Published: November 13, 2025

Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?

Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?

Journal: HGG advances

Published: November 13, 2025

Expanding access to genomic analysis and reporting in research studies: The GENYSIS research core.

Expanding access to genomic analysis and reporting in research studies: The GENYSIS research core.

Journal: Journal of clinical and translational science

Published: August 19, 2025

Mondo: integrating disease terminology across communities.

Mondo: integrating disease terminology across communities.

Journal: Genetics

Published: May 30, 2025

Long-Read Sequencing of a Neurodevelopmental Disorder Patient Reveals Complex Rearrangement Involving the ARID1B Gene.

Long-Read Sequencing of a Neurodevelopmental Disorder Patient Reveals Complex Rearrangement Involving the ARID1B Gene.

Journal: American journal of medical genetics. Part A

Published: April 28, 2025

Community Collaboration in Public Health Genetic Literacy: Methods for Co-Designing Educational Resources for Equitable Genomics Research and Practice.

Community Collaboration in Public Health Genetic Literacy: Methods for Co-Designing Educational Resources for Equitable Genomics Research and Practice.

Journal: Public health genomics

Published: March 27, 2025

Age-Based Genomic Screening: Pediatric Providers' Perspectives on Implementation.

Age-Based Genomic Screening: Pediatric Providers' Perspectives on Implementation.

Journal: Public health genomics

Published: January 23, 2025

A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.

A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 13, 2024

Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group.

Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 19, 2024

WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype.

WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype.

Journal: American journal of medical genetics. Part A

Published: February 13, 2024

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

Journal: Science advances

Published: May 01, 2023

Showing 1-12 of 46

Last Updated: 09/26/2026