Irini Manoli

12PUBLICATIONS
79CO-AUTHORS
Pacific Peoples and disabilityInfant and child healthNeurology and neuromuscular diseasesMedical mycologyMedical molecular engineering of nucleic acids and proteins
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Publications (12)

|May 25, 2024
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.

Denise K Liberton, Konstantinia Almpani, Rashmi Mishra

|Jan 10, 2024
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.

Oleg A Shchelochkov, Cristan A Farmer, Colby Chlebowski

|Jun 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.

Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb

|May 27, 2023
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.

Irini Manoli, Abigael Gebremariam, Samantha McCoy

|May 25, 2022
Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin.

PamelaSara E Head, Sangho Myung, Yong Chen

|May 01, 2022
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.

Carolina Montano, Thomas Cassini, Shira G Ziegler

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Frequent Collaborators

5 joint publications

Charles P Venditti

4 joint publications

Jennifer L Sloan

3 joint publications

Elizabeth C Engle

2 joint publications

Ethylin Wang Jabs