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

Sophie Rondeau

Hôpital Necker-Enfants Malades

ORCID: 0000-0001-5962-7033

Also affiliated with Inserm, Université Paris Cité, Assistance Publique – Hôpitaux de Paris, Institut des Maladies Génétiques Imagine

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

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

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.013
N/A
0DataRank · unranked
43 citations

Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood +63 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

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101429
N/A
0DataRank · unranked
0 citations

Laura Mackay, Maria Blazo, Elizabeth Mizerik, Jozef Gécz, Renée Carroll +34 more