Perrine Pennamen

Also affiliated with Centre Hospitalier Universitaire de Bordeaux

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 2 papers. Top paper: “BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome”.

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

Genetics in Medicine(2020)10.1038/s41436-020-0867-5

N/A

0DataRank · unranked

85 citations

Linh Le, Angèle Tingaud‐Sequeira, Mathieu Fiore, Anne Bauters, Nguyen Van Duong Béatrice +14 more

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.016

N/A

0DataRank · unranked

25 citations

Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc +59 more