Amélie Piton

Centre National de la Recherche Scientifique

Also affiliated with Inserm, Institut de génétique et de biologie moléculaire et cellulaire, Hôpitaux Universitaires de Strasbourg, Université de Strasbourg

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 13 papers. Top paper: “PURA- Related Developmental and Epileptic Encephalopathy”.

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

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Nature Communications(2022)10.1038/s41467-022-34264-y

N/A

0.574DataRank · unranked

45 citations

Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel +32 more

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002

N/A

0.568DataRank · unranked

43 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 more

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5

N/A

0.208DataRank · unranked

3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 more

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Brain(2023)10.1093/brain/awad403

N/A

0DataRank · unranked

27 citations

Allan Bayat, Linda G. Zachariassen, Jiahui Sun, Yu-Han Ge, Dan Zhao +82 more

The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

Life Science Alliance(2023)10.26508/lsa.202201877

N/A

0DataRank · unranked

13 citations

Dilyana G. Dimitrova, Julien Pigeon, Chiara Paolantoni, Tao Ye, Virginie Marchand +16 more

Modeling neurodevelopmental disorder-associated hAGO1 mutations in C. elegans Argonaute ALG-1

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.04.06.535748

N/A

0DataRank · unranked

1 citations

Li Li, Ganesh Panzade, Amélie Piton, Anna Zinovyeva, Victor Ambros +1 more

Modeling neurodevelopmental disorder-associated human AGO1 mutations in Caenorhabditis elegans Argonaute alg-1

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2308255121

N/A

0DataRank · unranked

21 citations

Li Li, Ganesh Panzade, Amélie Piton, Anna Zinovyeva, Victor Ambros +1 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

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

Nature Communications(2022)10.1038/s41467-022-31566-z

N/A

0DataRank · unranked

39 citations

Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim +35 more

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2021-107751

N/A

0DataRank · unranked

30 citations

Margot A. Cousin, Nikita R. Dsouza, Thomas D. Challman, Karen E. Wain, Zöe Powis +67 more

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Genetics in Medicine(2021)10.1016/j.gim.2021.09.005

N/A

0DataRank · unranked

25 citations

Frédéric Ebstein, Anna Hurst, Marie Vincent, Ingrid Bader, Natasha L. Rudy +46 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