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Office
101 Manning Dr
Chapel Hill, NC 27514Phone+1 919-843-8724Fax+1 919-966-4151
Education & Training
- Baylor College of MedicineResidency, Medical Genetics and Genomics, 2010 - 2012
- University of FloridaResidency, Pediatrics, 2007 - 2010
- University of North Carolina at Chapel Hill School of MedicineClass of 2007
Certifications & Licensure
- NC State Medical License 2013 - 2025
- PA State Medical License 2010 - 2014
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing Start of enrollment: 2012 Aug 01
- North Carolina Newborn Exome Sequencing for Universal Screening Start of enrollment: 2016 Jun 01
- North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Start of enrollment: 2018 Sep 28
Publications & Presentations
PubMed
- WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype.Tam P Sneddon, Kelly L Gilmore, Mai Xiong, Karen E Weck, Bradford C Powell
American Journal of Medical Genetics. Part A. 2025-01-01 - 2 citationsA systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.Heidi L Cope, Laura V Milko, Elizabeth R Jalazo, Blythe G Crissman, Ann Katherine M Foreman
Genetics in Medicine. 2024-12-01 - Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group.Christine M Pak, Marian J Gilmore, Joanna E Bulkley, Pranesh Chakraborty, Orit Dagan-Rosenfeld
Genetics in Medicine. 2024-08-01
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