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

Nicola Longo

University of California, Los Angeles

ORCID: 0000-0002-3677-1216

Also affiliated with Center for Human Genetics, Institute of Human Genetics

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 7%percentile

0.165Author 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 →

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

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101555

Top 70%

0.165DataRank

Top 70%2 citations

Pavla Nedbalova, Miroslava Hančárová, Jan Prchal, Darina Prchalová, Markéta Vlčková +74 more

Papers

Driven by 16 papers — median percentile 30. 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

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

104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)

Journal of Neurology(2024)10.1007/s00415-024-12236-0

N/A

0.803DataRank · unranked

28 citations

Priya S. Kishnani, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Jordi Díaz‐Manera +79 more

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101555

Top 70%

0.165DataRank

Top 70%2 citations

Pavla Nedbalova, Miroslava Hančárová, Jan Prchal, Darina Prchalová, Markéta Vlčková +74 more

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

Neurology(2022)10.1212/wnl.0000000000201222

N/A

0DataRank · unranked

42 citations

Laura A. Tseng, Levinus A. Bok, Hans Hartmann, Emma Footitt, Pasquale Striano +18 more

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.02.005

N/A

0DataRank · unranked

27 citations

José E. Abdenur, Ashley Andrews, Verena G. Aziz, Levinus A. Bok, Monica Boyer +13 more

Challenges and strategies for clinical trials in propionic and methylmalonic acidemias

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107612

N/A

0DataRank · unranked

13 citations

Barbara K. Burton, Agnieszka Jurecka, Jitendra Ganju, Beth Leiro, Roberto T. Zori +2 more

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108362

N/A

0DataRank · unranked

10 citations

Amanda Thomas‐Wilson, Emily Groopman, Vimla S. Aggarwal, Simona Bianconi, Raquel Fernandez +9 more

Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63516

N/A

0DataRank · unranked

2 citations

Nicola Longo, Robert G. Lewis, Thomas J. Nicholas, Steven E. Boyden, Ashley Andrews +6 more

Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108541

N/A

0DataRank · unranked

2 citations

Georgianne L. Arnold, Uta Lichter‐Konecki, Gerard T. Berry, Dorothy K. Grange, Cary O. Harding +8 more

Phenylketonuria in adults: we know plenty, but there is much more to learn

American Journal of Clinical Nutrition(2025)10.1016/j.ajcnut.2024.12.024

N/A

0DataRank · unranked

2 citations

Georgianne L. Arnold, Gerard T Berry, Shawn E. Christ, Dorothy K. Grange, Elaina Jurecki +10 more

Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.11.004

N/A

0DataRank · unranked

10 citations

E. Salvatici, Alberto B. Burlina, Ashley Andrews, Marzia Pasquali, Nicola Longo +1 more

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency

Orphanet Journal of Rare Diseases(2025)10.1186/s13023-025-03900-3

N/A

0DataRank · unranked

1 citations

Emily Reinhardt, Audrey Thurm, Beth K. Potter, Maureen Smith, Celeste Graham +25 more

Pathophysiology and management of classic galactosemic primary ovarian insufficiency

Reproduction and Fertility(2021)10.1530/raf-21-0014

N/A

0DataRank · unranked

13 citations

John S. Rushing, Leslie Appiah, Nicola Longo, Ashley Andrews, Kent Lai +2 more

Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.

(2021)10.22541/au.161997823.33283461/v1

N/A

0DataRank · unranked

0 citations

Barry Moore, Nantaporn Haskins, Véronique Rüfenacht, Dariusz Rokicki, M. Estela Rubio‐Gozalbo +7 more

Biomarkers for drug development in propionic and methylmalonic acidemias

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12478

N/A

0DataRank · unranked

45 citations

Jörn Oliver Sass, Agnieszka Jurecka, Jerry Vockley, Nicola Longo