Bradford Powell

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University of North Carolina

United States

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Recent Grants

Grant: Close

The Clinical Genome Resource - Expert Curation and EHR Integration

Open Date: 2017-09-12

Close Date: 2021-07-31

Grant: Close

A Knowledge Base for Clinically Relevant Genes and Variants

Open Date: 2013-09-23

Close Date: 2018-07-31

Grant: Close

NC NEXUS, North Carolina Newborn Exome Sequencing for Universal Screening

Open Date: 2013-09-05

Close Date: 2019-08-31

Grant: Close

North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2

Open Date: 2011-12-05

Close Date: 2021-05-31

Grant: Close

Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation

Open Date: 2007-06-08

Close Date: 2023-08-31

Articles (10)

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2024

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2023

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2023

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2022

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2022

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2022

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2022

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2021

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UNITED STATES

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Stephan Sanders

Professor of Paediatric Neurogenetics

University of Oxford

UNITED KINGDOM

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Bradford Powell

Research Interests

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Contact this professor

Recent Grants

Articles (10)

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

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.

Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.

Testing and extending strategies for identifying genetic disease–related encounters in pediatric patients

Establishing the Medical Actionability of Genomic Variants.

ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.

Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.

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

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

Collaborators (6)

Donna Gilleskie

Laura Hendon

Gregory Cooper

Sarah Scollon

STEPHANIE HAO

Stephan Sanders

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