Overview
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 CiteExpanded 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 CiteCorrection: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal Article Eur J Hum Genet · August 2024 Full text Link to item CiteRecent Grants
Residency/Fellowship Training in Medical Genetics
FellowshipPrincipal Investigator · Awarded by Genzyme Corporation · 2022 - 2024Residency in Medical Genetics at Duke University
ResearchPrincipal Investigator · Awarded by Genzyme Corporation · 2021 - 2024Postdoctoral Training in Genomic Medicine Research
Inst. Training Prgm or CMEMentor · Awarded by National Institutes of Health · 2017 - 2023View All Grants
Education, Training & Certifications
University Dublin Trinity College (Ireland) ·
1988
M.D.