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

Nicolas J. Abreu

New York University

ORCID: 0000-0002-8288-6268

MedicineBiochemistry, Genetics and Molecular BiologyNeuroscience

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

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 6 papers. Top paper: “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)”.

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

Two cases of MT-ND5 -related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder

Multiple Sclerosis Journal(2023)10.1177/13524585231172947

N/A

0DataRank · unranked

3 citations

Amy Yu, Connolly Steigerwald, Kurenai Tanji, Alejandro Iglesias, Michio Hirano +4 more

CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107713

N/A

0DataRank · unranked

2 citations

Jill Borsuk, John Pappas, Miranda Galey, Anna Scott, Joseph M. Devaney +3 more

Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency

Genetics in Medicine(2024)10.1016/j.gim.2024.101280

N/A

0DataRank · unranked

8 citations

Mônica M. França, Maha Abdulhadi‐Atwan, Haruki Fujisawa, Manassawee Korwutthikulrangsri, Isis Marchand +14 more

Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63578

N/A

0DataRank · unranked

2 citations

Lisa Weingarten, Nicolas J. Abreu, Houda Zghal Elloumi, Tobias B. Haack, Clara Hildebrant +7 more

Novel C1A Domain Variant in Protein Kinase Cγ in Spinocerebellar Ataxia Type 14 Decreases Autoinhibition

The Cerebellum(2025)10.1007/s12311-025-01818-x

N/A

0DataRank · unranked

0 citations

Tiffany Kao, Connolly Steigerwald, Nora L. Chan, Alexandra C. Newton, Nicolas J. Abreu +1 more