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Office
3000 Erwin Rd
Durham, NC 27705Phone+1 919-684-2036- Is this information wrong?
Education & Training
- University of Michigan Health SystemResidency, Pediatrics, 1991 - 1994
- University of Dublin Trinity CollegeClass of 1985
Certifications & Licensure
- NC State Medical License 1998 - 2024
- MI State Medical License 1994 - 1999
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- Safety Study of Replagal® Therapy in Children With Fabry Disease Start of enrollment: 2011 May 12
- Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients Start of enrollment: 2012 Oct 01
Publications & Presentations
PubMed
- 3 citationsA recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes a neurodevelopmental disorder with microcephaly and speech delayDianne Laboy Citron, Alison M. Muir, Abbey A. Scott, Marie T. McDonald, Kristin G. Monaghan, Teresa Santiago Sim, Ingrid M. Wentzensen, Chiara De Luca, Francesco Branc...> ;HGG Advances. 2021 Nov 25
- 35 citationsPathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A. Cousin, Blake A Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald James Edwards, Simone Afr...> ;Nature Genetics. 2021 Jul 1
- 5 citationsSevere multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.Tonya Moss, Melanie May, Heather Flanagan-Steet, Raymond Caylor, Yong-Hui Jiang, Marie T. McDonald, Michael J. Friez, Allyn McConkie-Rosell, Richard Steet> ;Cold Spring Harbor Molecular Case Studies. 2021 Jun 11
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Journal Articles
- Expanding the Clinical Phenotype of Individuals with a 3-Bp in-Frame Deletion of the NF1 Gene (c.2970_2972del): An Update of Genotype–Phenotype CorrelationRachel K Hachen, Elizabeth K Schorry, Arthur S Aylsworth, Katherine A Rauen, Ashraf Syed, Daryl A Scott, Lois J Starr, Donald G Basel, Lynne M Bird, Leah W Burke, Mari..., Nature
Hospital Affiliations
- Duke University HospitalDurham, North Carolina
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