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Marie Theresa McDonald

Professor of Pediatrics
Pediatrics, Medical Genetics
2082 GSRB1, Box 103857, Durham, NC 27710
2082 GSRB1, Box 103857, Durham, NC 27710

Overview


My current research interests are in the field of Clinical Genetics, Dysmorphology, and Fabry disease.

Current Appointments & Affiliations


Professor of Pediatrics · 2021 - Present Pediatrics, Medical Genetics, Pediatrics

Recent Publications


Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).

Journal Article Am J Med Genet A · October 2024 Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016 ... Full text Link to item Cite

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal Article Eur J Hum Genet · August 2024 Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay ... Full text Link to item Cite
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Recent Grants


Residency/Fellowship Training in Medical Genetics

FellowshipPrincipal Investigator · Awarded by Genzyme Corporation · 2022 - 2024

Residency in Medical Genetics at Duke University

ResearchPrincipal Investigator · Awarded by Genzyme Corporation · 2021 - 2024

Postdoctoral Training in Genomic Medicine Research

Inst. Training Prgm or CMEMentor · Awarded by National Institutes of Health · 2017 - 2023

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Education, Training & Certifications


University Dublin Trinity College (Ireland) · 1988 M.D.