Florence Petit

Also affiliated with Centre Hospitalier Universitaire de Lille, Lille’s Cardiology Hospital

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 14 papers. Top paper: “Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus”.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62976

N/A

0.385DataRank · unranked

12 citations

Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza‐Meireles +48 more

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Genome Medicine(2024)10.1186/s13073-024-01339-y

N/A

0.292DataRank · unranked

6 citations

Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco +49 more

Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia

Nature Communications(2021)10.1038/s41467-021-22470-z

N/A

0DataRank · unranked

72 citations

Yichi Zhang, Chenling Xiong, Jingjing Zhao, Ilias Georgakopoulos-Soares, Lauren Kane +9 more

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Human Genetics(2021)10.1007/s00439-021-02283-2

N/A

0DataRank · unranked

36 citations

Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person +40 more

Effects of eight neuropsychiatric copy number variants on human brain structure

Translational Psychiatry(2021)10.1038/s41398-021-01490-9

N/A

0DataRank · unranked

47 citations

Kuldeep Kumar, Clara Moreau, Sandra Martin‐Brevet, Guillaume Huguet, Catherine Schramm +95 more

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

medRxiv(2021)10.1101/2021.07.07.21259278

N/A

0DataRank · unranked

2 citations

Mauro Longoni, Julie Wells, Richard S. Maser, Matthew J. Dysart, Hannah T. M. Contreras +33 more

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Brain(2022)10.1093/brain/awac145

N/A

0DataRank · unranked

36 citations

Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen +48 more

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.002

N/A

0DataRank · unranked

8 citations

Mauro Longoni, Julie Wells, Richard S. Maser, Eric L. Bogenschutz, Matthew J. Dysart +34 more

TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

Nature Communications(2024)10.1038/s41467-024-47739-x

N/A

0DataRank · unranked

24 citations

Hiroshige Murata, Fernanda M. Bosada, Uirá Souto Melo, Takanori Aizawa, Pierre Lindenbaum +39 more

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome

Genetics in Medicine(2024)10.1016/j.gim.2024.101267

N/A

0DataRank · unranked

1 citations

A.‐S. Jourdain, Frédéric Frénois, Emilie Ait‐Yahya, Mike Bamshad, Anne Dieux +10 more

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

medRxiv(2024)10.1101/2024.01.14.24301100

N/A

0DataRank · unranked

1 citations

Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco +47 more

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

Cell(2020)10.1016/j.cell.2020.02.031

N/A

0DataRank · unranked

194 citations

Yiwen Zhu, Guy Kelman, Catherine S. Novak, Ingrid Plajzer-Frick, Momoe Kato +22 more

Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity

Prenatal Diagnosis(2025)10.1002/pd.6743

N/A

0DataRank · unranked

2 citations

Chaker Aloui, Justine Chanclud, Éléonore Blondiaux, Jéléna Martinovic, Tania Attié‐Bitach +10 more

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

European Journal of Human Genetics(2020)10.1038/s41431-020-0571-6

N/A

0DataRank · unranked

38 citations

Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thévenon, Ange‐Line Bruel +60 more