Irini Manoli

Also affiliated with National Human Genome Research Institute, Metabolic Solutions

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 19 papers. Top paper: “Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia”.

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12636

N/A

1.1DataRank · unranked

42 citations

Abigael Gebremariam, Samantha McCoy, Alexandra Pass, Jack Gagné, Camryn Hall +11 more

Severity modeling of propionic acidemia using clinical and laboratory biomarkers

Genetics in Medicine(2021)10.1038/s41436-021-01173-2

N/A

0.846DataRank · unranked

23 citations

Irini Manoli, Paul Juneau, Jennifer L. Sloan, Susan Ferry, Jennifer Myles +15 more

1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

Genetics in Medicine(2021)10.1038/s41436-021-01143-8

N/A

0.688DataRank · unranked

16 citations

Alexandra Pass, Elizabeth A. Harrington, Jennifer L. Sloan, Jack Gagné, Samantha McCoy +16 more

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Nature Genetics(2023)10.1038/s41588-023-01424-9

N/A

0.550DataRank · unranked

38 citations

Silvio Alessandro Di Gioia, Bryn D. Webb, Wai‐Man Chan, Elke de Boer, Sarah J. Garnai +53 more

The Platform Vector Gene Therapies Project: Increasing the Efficiency of Adeno-Associated Virus Gene Therapy Clinical Trial Startup

Human Gene Therapy(2020)10.1089/hum.2020.259

N/A

0.529DataRank · unranked

33 citations

Elizabeth A. Ottinger, Deanna Portero, Richa Madan Lomash, Asaf Alimardanov, Pramod Terse +35 more

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Human Genetics(2021)10.1007/s00439-021-02379-9

N/A

0.510DataRank · unranked

29 citations

Brenda J. Barry, Caroline D. Robson, Flavia M. Facio, Carol Van Ryzin, Wai‐Man Chan +31 more

Inability to move one's face dampens facial expression perception

Cortex(2023)10.1016/j.cortex.2023.08.014

N/A

0.467DataRank · unranked

12 citations

Jessica Jordan, Judith Licht, Savannah Lokey, Gang Chen, Joseph Snow +7 more

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation

JCI Insight(2024)10.1172/jci.insight.174097

N/A

0.345DataRank · unranked

6 citations

Justin R. Sysol, PamelaSara E. Head, Madeline Epping, Oksana Gavrilova, Melissa K. Crocker +22 more

Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.109005

N/A

0.165DataRank · unranked

2 citations

Huw Davies, Robert P. Mohney, Ace J. Hatch, Owen Birch, Susan Ferry +9 more

Disparate language and model effects on AI-based translation and recognition of genetic conditions

Journal of the American Medical Informatics Association(2026)10.1093/jamia/ocag067

N/A

0.165DataRank · unranked

2 citations

Irini Manoli, Shubha R Phadke, Chanika Phornphutkul, Jonathan D Raymond, Benjamin D Solomon +1 more

Inability to make facial expressions dampens emotion perception

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.10.11.510399

N/A

0DataRank · unranked

3 citations

Jessica Jordan, Judith Licht, Savannah Lokey, Gang Chen, Joseph Snow +7 more

ImmTOR nanoparticles enhance AAV transgene expression after initial and repeat dosing in a mouse model of methylmalonic acidemia

Molecular Therapy — Methods & Clinical Development(2021)10.1016/j.omtm.2021.06.015

N/A

0DataRank · unranked

37 citations

Alicia Michaud, Gina L. Rizzo, Christopher Roy, Sheldon S. Leung, Stephanie L. Elkins +11 more

A framework for the evaluation of patients with congenital facial weakness

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01736-1

N/A

0DataRank · unranked

13 citations

Irini Manoli, Elizabeth C. Engle, Ethylin Wang Jabs, Bryn D. Webb

Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin

Science Translational Medicine(2022)10.1126/scitranslmed.abn4772

N/A

0DataRank · unranked

54 citations

Sangho Myung, Yong Chen, Jessica L. Schneller, Cindy Wang, Nicholas R. Duncan +7 more

Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9

Molecular Therapy — Methods & Clinical Development(2022)10.1016/j.omtm.2022.09.001

N/A

0DataRank · unranked

14 citations

Giovanni Di Pasquale, Jennifer L. Sloan, Samantha McCoy, Brandon T. Hubbard, Tina M. Kilts +4 more

The first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report

BMC Cancer(2020)10.1186/s12885-020-06723-6

N/A

0DataRank · unranked

13 citations

Francine B. de Abreu, Sho Yano, Liqiang Xi, Donald W. Hadley, Irini Manoli +4 more

Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology

Molecular Psychiatry(2024)10.1038/s41380-023-02385-5

N/A

0DataRank · unranked

12 citations

Cristan Farmer, Colby Chlebowski, Dee Adedipe, Susan Ferry, Irini Manoli +7 more

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness

International Journal of Environmental Research and Public Health(2024)10.3390/ijerph21050615

N/A

0DataRank · unranked

2 citations

Konstantinia Almpani, Rashmi Mishra, Carol W. Bassim, Carol Van Ryzin, Bryn D. Webb +6 more

Systematic phenotype and genotype characterization of Moebius syndrome

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103437

N/A

0DataRank · unranked

1 citations

Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang, Brenda J. Barry, Carol Van Ryzin +37 more