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

Thorsten Marquardt

Klinik und Poliklinik für Kinder- und Jugendmedizin

ORCID: 0000-0002-9982-2981

Also affiliated with University Hospital Münster

Biochemistry, Genetics and Molecular BiologyMedicineChemistry

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 4 papers. Top paper: “Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1”.

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.11.005
N/A
0DataRank · unranked
23 citations

Pamela Kell, Dennis J. Dietzen, Nicole Y. Farhat, An Dang, Forbes D. Porter +12 more

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.01.007
N/A
0DataRank · unranked
37 citations

Pamela Kell, Dennis J. Dietzen, Nicole Y. Farhat, An Dang, Forbes D. Porter +13 more

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.015
N/A
0DataRank · unranked
7 citations

Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Reneé C. Lin +95 more

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

medRxiv(2024)10.1101/2024.07.18.24310581
N/A
0DataRank · unranked
1 citations

Cailyn P Leo, Chenghong Deng, Kejia Zhang, Sheng‐Jia Lin, Reza Maroofian +75 more