Karine Siquier-Pernet

Also affiliated with Université Paris Cité, Institut des Maladies Génétiques Imagine

Biochemistry, Genetics and Molecular BiologyNeuroscience

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

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 5 papers. Top paper: “Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder”.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Nature Communications(2021)10.1038/s41467-021-22627-w

N/A

0.598DataRank · unranked

53 citations

Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee +65 more

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

Human Molecular Genetics(2022)10.1093/hmg/ddac098

N/A

0.345DataRank · unranked

9 citations

Anna Lena Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert +16 more

De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.001

N/A

0.345DataRank · unranked

9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +94 more

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

BMC Medical Genomics(2023)10.1186/s12920-023-01582-z

N/A

0.241DataRank · unranked

4 citations

Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich +10 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