Patrick Callier

Also affiliated with CHU Dijon Bourgogne, Maison des Sciences sociales et des Humanités de Dijon, Laboratoire de Génétique Cellulaire

Biochemistry, Genetics and Molecular BiologyMedicine

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: “Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity”.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Genetics in Medicine(2021)10.1038/s41436-021-01218-6

N/A

0DataRank · unranked

17 citations

Thierry Gautier, Dana Marafi, Thomas Besnard, Marjolaine Willems, Sébastien Moutton +37 more

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.015

N/A

0DataRank · unranked

40 citations

Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee +38 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

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

medRxiv(2023)10.1101/2023.05.18.23290169

N/A

0DataRank · unranked

5 citations

Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee +38 more

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

medRxiv(2024)10.1101/2024.08.27.24312158

N/A

0DataRank · unranked

5 citations

Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Matthew T. Oetjens +65 more