🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Amel Karaa

Cambridge Hospital

ORCID: 0000-0001-5781-9824

Also affiliated with Massachusetts General Hospital

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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 2%percentile
3.8Author DataRank

Indexed papers

3in 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 3 indexed papers 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 →

Top data-sharing exemplar

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Mitochondrial diseases in North America

Neurology Genetics(2020)10.1212/nxg.0000000000000402
Top 11%
2.0DataRank
Top 11%77 citations

Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro +30 more

Papers

Driven by 14 papers — median percentile 83. Top paper: “Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial”.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

The Lancet Neurology(2021)10.1016/s1474-4422(21)00241-6
N/A
2.9DataRank · unranked
185 citations

Priya S. Kishnani, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub +95 more

Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells

New England Journal of Medicine(2020)10.1056/nejmoa2001265
N/A
2.6DataRank · unranked
100 citations

Caleb A. Lareau, Leif S. Ludwig, Amel Karaa, Vijay G. Sankaran, Aviv Regev +2 more

Mitochondrial diseases in North America

Neurology Genetics(2020)10.1212/nxg.0000000000000402
Top 11%
2.0DataRank
Top 11%77 citations

Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro +30 more

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy

Neurology(2023)10.1212/wnl.0000000000207402
N/A
1.5DataRank · unranked
72 citations

Enrico Bertini, Valério Carelli, Bruce H. Cohen, Gregory M. Enns, Marni J. Falk +59 more

The North American mitochondrial disease registry

Journal of Translational Genetics and Genomics(2020)10.20517/jtgg.2020.12
Top 17%
1.2DataRank
Top 17%8 citations

John L.P. Thompson, Richard Haas, Johan L.K. Van Hove, Amel Karaa, Danuta Krotoski +5 more

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

Human Mutation(2020)10.1002/humu.24107
N/A
0.789DataRank · unranked
192 citations

Marie T. Lott, Matthew C. Dulik, Li Shen, Marcella Attimonelli, Ornella Vitale +16 more

The evolution of the mitochondrial disease diagnostic odyssey

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-023-02754-x
Top 33%
0.604DataRank
Top 33%19 citations

Amel Karaa, Hung Viet Pham, Philip E. Yeske, Jeffrey P. Krischer, Yi Xiao +10 more

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

Genetics in Medicine(2022)10.1016/j.gim.2022.07.005
N/A
0.477DataRank · unranked
23 citations

Rachel VanCoillie, Elizabeth VanSickle, Deanna Alexis Carere, Kara Withrow, Erin Torti +43 more

T cell activation contributes to purifying selection against the MELAS‐associated m.3243A>G pathogenic variant in blood

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12726
N/A
0.292DataRank · unranked
6 citations

Shuqiang Li, Kenneth J. Livak, Amel Karaa, Catherine J. Wu, Vamsi K. Mootha +1 more

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

Advanced Genetics(2021)10.1002/ggn2.202100047
N/A
0.208DataRank · unranked
3 citations

Laura E. MacMullen, John C. Campbell, John Christodoulou, Bruce H. Cohen, Thomas Klopstock +11 more

Phenotypes of undiagnosed adults with actionable OTC and GLA variants

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100226
N/A
0.208DataRank · unranked
3 citations

Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong +7 more

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12196
N/A
0DataRank · unranked
68 citations

David A. Brown, Mitchell E. Allen, Laurence A. Bindoff, Gráinne S. Gorman, Amel Karaa +12 more

Long‐Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63940
N/A
0DataRank · unranked
3 citations

Emilie S. Zoltick, Hana Zouk, Wei He, Emma Perez, L. Clarke +8 more

Signs, symptoms, and health-related quality of life in MELAS: measuring what’s important from the patient and clinician perspectives

Journal of Patient-Reported Outcomes(2025)10.1186/s41687-025-00962-6
N/A
0DataRank · unranked
1 citations

Benjamin Banderas, Marisa Brimmer, Lily Settel, Sari Berger, Alan L. Shields +14 more