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

Isabel Spier

University of Bonn

ORCID: 0000-0003-2407-7427

Also affiliated with University Hospital Bonn, Hereditary Disease Foundation, Institute of Human Genetics

MedicineBiochemistry, Genetics and Molecular Biology

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: “Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel”.

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

Genetics in Medicine(2023)10.1016/j.gim.2023.100992
N/A
1.0DataRank · unranked
33 citations

Xiaoyu Yin, Marcy E. Richardson, Marta Pineda, Andreas Laner, Deborah Ritter +27 more

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Nature Genetics(2024)10.1038/s41588-024-01836-1
N/A
0DataRank · unranked
49 citations

Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh +95 more

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.09.002
N/A
0DataRank · unranked
15 citations

Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta +27 more

Hereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls

Gut(2025)10.1136/gutjnl-2024-334601
N/A
0DataRank · unranked
7 citations

Alexandre Dias, Ana Maria Pedro, Marta Ferreira, André Pinto-Oliveira, Celina São José +51 more