Anne‐Sophie Denommé‐Pichon

Also affiliated with Université de Bourgogne

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 11 papers. Top paper: “Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy”.

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Journal of Clinical Investigation(2021)10.1172/jci142148

N/A

1.2DataRank · unranked

27 citations

Alex V. Postma, Christian Salazar, Daniel M. De Laughter, Fleur V.Y. Tjong, Lenka Piherová +51 more

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation(2021)10.1002/humu.24308

N/A

0.921DataRank · unranked

20 citations

Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane Yeboa +54 more

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613

N/A

0.596DataRank · unranked

52 citations

Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders +95 more

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.011

N/A

0.483DataRank · unranked

24 citations

Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard +53 more

Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Epilepsia(2023)10.1111/epi.17876

N/A

0.434DataRank · unranked

17 citations

Amanda M. Levy, Elena Gardella, Ángel Aledo‐Serrano, Amitha Ananth, Alejandro Brea‐Fernández +59 more

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Genetics in Medicine(2022)10.1016/j.gim.2022.05.009

N/A

0.416DataRank · unranked

15 citations

Jinwei Zhang, Thomas Besnard, Alfonso Caro‐Llopis, Xue Zeng, Stephanie M. Robert +75 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010

N/A

0DataRank · unranked

1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more

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

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Human Molecular Genetics(2022)10.1093/hmg/ddac114

N/A

0DataRank · unranked

17 citations

Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne‐Sophie Denommé‐Pichon, Boris Keren +43 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

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more