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CD

Colleen Donnelly

Counselor · Icahn School of Medicine at Mount Sinai

Credentials: ·

History

Icahn School of Medicine at Mount Sinai
Present

Research

PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death
Case report · JACC Case Reports · 2023 · 9 citations
A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection
Case report · International Journal of Neonatal Screening · 2024 · First of 4 authors · Corresponding · 5 citations
A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis, and hypoglycemia
Case report · Journal of Clinical Investigation · 2026 · 3 citations

Jaya Ganesh
7 papers
Bruce Gelb
3 papers
Ibrahim Elsharkawi
2 papers
Janhawi Kelkar
2 papers · 2 as a resident
Mary Lopiccolo
2 papers
NJ
Neil Jacob
2 papers · 1 as a fellow
Rory Tinker
2 papers · 2 as a fellow
Abhimanyu Garg
1 paper
Anil Agarwal
1 paper
Anna Platt
1 paper
Daniel Schecter
1 paper · 1 as a resident
Daniel Silver
1 paper