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

Charlotte A. Haaxma

Radboud University Nijmegen

ORCID: 0000-0002-0682-345X

Also affiliated with Radboud University Medical Center

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: “Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness”.

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Human Molecular Genetics(2020)10.1093/hmg/ddaa108
N/A
0DataRank · unranked
37 citations

Doriana Misceo, Stephanie Htun, Linda Mathisen, Eirik Frengen, Michelle Foreman +18 more

Genotype–phenotype correlations and novel molecular insights into the DHX30 -associated neurodevelopmental disorders

medRxiv(2020)10.1101/2020.09.24.20196097
N/A
0DataRank · unranked
0 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.019
N/A
0DataRank · unranked
47 citations

Heidi Cope, Zelha Nil, Thomas A. Ravenscroft, Wu‐Lin Charng, Shenzhao Lu +42 more

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00900-3
N/A
0DataRank · unranked
31 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more