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

Fernando Scaglia

Baylor College of Medicine

ORCID: 0000-0003-3502-8460

Also affiliated with Prince of Wales Hospital, Texas Children's Hospital, Baylor Genetics, University of Hong Kong

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 2%percentile
2.0Author DataRank

Indexed papers

4in 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 4 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 19 papers — median percentile 89. Top paper: “Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders”.

Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders

Genetics in Medicine(2019)10.1038/s41436-019-0442-0
N/A
3.0DataRank · unranked
68 citations

Lillian Thistlethwaite, Bridget M. Stroup, Qin Sun, Marcus J. Miller, Sandesh C.S. Nagamani +9 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

Detection of clinically relevant exonic copy-number changes by array CGH

Human Mutation(2010)10.1002/humu.21360
N/A
0.824DataRank · unranked
242 citations

Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia M. Hixson, Amber N. Pursley +29 more

Primary and secondary alterations of neonatal carnitine metabolism

Seminars in Perinatology(1999)10.1016/s0146-0005(99)80047-0
N/A
0.677DataRank · unranked
90 citations

Nicola Longo, Fernando Scaglia

Clinical trials in mitochondrial disorders, an update

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.10.002
N/A
0.646DataRank · unranked
73 citations

Ayman W. El‐Hattab, M. Nadir Ali, Claudia Soler‐Alfonso, Fernando Scaglia, Mohammed Almannai

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

Genetics in Medicine(2022)10.1016/j.gim.2022.11.020
N/A
0.590DataRank · unranked
50 citations

Erica Julianne Lay, Claudia Soler‐Alfonso, Kevin E. Glinton, Kimberly Houck, Mustafa Tosur +29 more

Causes of mortality in the congenital disorders of glycosylation

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109052
N/A
0.241DataRank · unranked
4 citations

Seishu Horikoshi, Sabrina Malone Jenkins, Fernando Scaglia, Christina Lam, Éva Morava +3 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

Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62889
N/A
0DataRank · unranked
10 citations

Xiaonan Zhao, Amanda Gerard, Fernando Scaglia, Michael F. Wangler, Samantha A. Schrier Vergano +2 more

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108513
N/A
0DataRank · unranked
13 citations

Kyle D. Hope, Andrew C. Edmondson, Rameen Shah, Maria Patino, Abigail Yesso +7 more

Hyperkinetic Movement Disorder Caused by the Recurrent c. 892C >T NACC1 Variant

Movement Disorders Clinical Practice(2024)10.1002/mdc3.14051
N/A
0DataRank · unranked
4 citations

Salla M. Kangas, Estrella López‐Martín, Timothy Feyma, Fernando Scaglia, Beatriz Martínez–Delgado +7 more

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109087
N/A
0DataRank · unranked
2 citations

Gina L. Mazza, Andrew C. Edmondson, Fernando Scaglia, Seishu Horikoshi, Bryce Kuschel +11 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

TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.01.005
N/A
0DataRank · unranked
26 citations

Claudia Soler‐Alfonso, Kathleen M. Loomes, Amit A. Shah, Danielle Monteil, Carmencita D. Padilla +3 more

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.03.001
N/A
0DataRank · unranked
36 citations

Warapan Nakayuenyongsuk, Brian J. Shayota, William Berquist, Natalia Gomez‐Ospina, Carlos O. Esquivel +18 more

Mitochondrial DNA maintenance defects: potential therapeutic strategies

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.07.003
N/A
0DataRank · unranked
20 citations

Ayman W. El‐Hattab, Mahshid S. Azamian, M. Nadir Ali, Fernando Scaglia, Mohammed Almannai

NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.04.003
N/A
0DataRank · unranked
31 citations

Daniel G. Calame, Charul Gijavanekar, Kristen Fisher, Jill V. Hunter, Elizabeth Mizerik +4 more

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Genetics in Medicine(2022)10.1016/j.gim.2022.09.015
N/A
0DataRank · unranked
17 citations

Yael Mozer‐Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger +56 more