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

Marie‐José H. van den Boogaard

University Medical Center Utrecht

ORCID: 0000-0002-3100-9337
Biochemistry, 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: “Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content”.

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

Human Molecular Genetics(2020)10.1093/hmg/ddaa051
N/A
0DataRank · unranked
9 citations

Jouni Kvist, Noora Andersson, Katrin Õunap, Karit Reinson, Monica H. Wojcik +23 more

Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62380
N/A
0DataRank · unranked
18 citations

Cathelijne C. Linders, Sterre H. Tromp, Marie‐José H. van den Boogaard, Agnies M. van Eeghen, Erik Boot

De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies

medRxiv(2021)10.1101/2021.12.07.21266342
N/A
0DataRank · unranked
3 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +67 more

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Science Translational Medicine(2023)10.1126/scitranslmed.abo3189
N/A
0DataRank · unranked
36 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +69 more