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

Lyse Ruaud

ORCID: 0000-0003-4940-5896

Also affiliated with Centre Hospitalier Universitaire de Grenoble, Assistance Publique – Hôpitaux de Paris, Hôpital Mère-Enfant, Grenoble Institute of Neurosciences, Institut pour l'avancée des biosciences, Université Grenoble Alpes

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 5 papers. Top paper: “TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions”.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.10.007

N/A

0DataRank · unranked

26 citations

Linda M. Reis, Davut Pehli̇van, Jonathan A. Bernstein, Michael Muriello, Erin Syverson +33 more

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

European Journal of Human Genetics(2022)10.1038/s41431-021-01018-1

N/A

0DataRank · unranked

17 citations

Aidin Foroutan, Ellen Richardson, Steven A. Skinner, Jack Reilly, Jennifer Kerkhof +18 more

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.001

N/A

0DataRank · unranked

13 citations

Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame +33 more

New ZNHIT3 Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated Hydrops

medRxiv(2024)10.1101/2024.08.26.24312490

N/A

0DataRank · unranked

3 citations

Adeline Bonnard, Feng Wang, Lyse Ruaud, Fabien Guimiot, Yangping Li +8 more

Loss of function variants in ADAMTS6 : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)

medRxiv(2025)10.1101/2025.05.02.25326573

N/A

0DataRank · unranked

1 citations

Pauline Arnaud, Angélique Bibimbou, Deborah E. Seifert, Zakaria Mougin, Louise Benarroch +18 more