Anne Guimier

Also affiliated with Inserm, Université Paris Cité, Institut Necker Enfants Malades, Assistance Publique – Hôpitaux de Paris

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: “Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy”.

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61615

N/A

0DataRank · unranked

35 citations

Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph T.C. Shieh +26 more

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

European Journal of Human Genetics(2022)10.1038/s41431-022-01094-x

N/A

0DataRank · unranked

16 citations

Karine Siquier-Pernet, Marlène Rio, Anne Guimier, Emmanuelle Ollivier, Patrick Nitschké +6 more

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics(2023)10.1038/s41431-023-01410-z

N/A

0DataRank · unranked

10 citations

Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini +85 more

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology(2025)10.1002/ana.27272

N/A

0DataRank · unranked

8 citations

María Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual +75 more