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

Sídney M. Gospe

Duke University

ORCID: 0000-0002-0099-109X

Also affiliated with University of Washington

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

0in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 7 papers. Top paper: “Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy”.

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

Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research

Annals of the Child Neurology Society(2023)10.1002/cns3.20016
N/A
0DataRank · unranked
23 citations

Sídney M. Gospe, Curtis R. Coughlin

Feasibility of newborn screening for pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.109002
N/A
0DataRank · unranked
10 citations

Michael Woontner, José E. Abdenur, Bimal P. Chaudhari, Rachel Gosselin, Kimberly A. Kripps +5 more

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

medRxiv(2024)10.1101/2024.03.29.24304673
N/A
0DataRank · unranked
2 citations

Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach +64 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.12.004
N/A
0DataRank · unranked
1 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa S. Rajan, Senta Schönnagel +53 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

medRxiv(2025)10.1101/2025.03.31.25324695
N/A
0DataRank · unranked
2 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa Rajan, Senta Schönnagel +54 more