Author

Juliette Piard

InsermORCID 0000-0001-5244-5325Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:differential expression· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Approach:machine learning (classical)· 1 Organism:mouse· 1

Frequent Co-Authors

Anne Michele SlavotinekiD· 2 shared Boris KereniD· 2 shared Christiane ZweieriD· 2 shared Cyril MignotiD· 2 shared Frédéric Tran Mau‐ThemiD· 2 shared Marcello ScalaiD· 2 shared Adam W. HanseniD· 1 shared Adekunle M. AdesinaiD· 1 shared

Activity by Year

2018-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 22 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anne Michele SlavotinekORCID

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Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedOct 24, 2024

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Angela Peron, Felice D’Arco, Kimberly A. Aldinger…·Cristina Dias

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

23 citationstop 3%

humanstatistical model

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Genetic & Genomic MedicinemedRxivPreprintApr 24, 2024

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Maolei Gong, Jiayi Li, Yijun Liu…·Xiaoli Chen

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

DOI 10.1101/2024.04.24.24304501

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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedNov 2, 2022

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

Elsa Leitão, Christopher Schröder, Ilaria Parenti…·Christel Depienne

The paper systematically analyzes chrX genes to predict disease associations, identifying 235 genes likely involved in disorders and reporting damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism.

48 citationstop 2%

humanmachine learning (classical)

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GeneticsAnnals of Clinical and Translational NeurologyPeer-reviewedSep 15, 2018

Phenotypic expansion in DDX3X -- a common cause of intellectual disability in females

Xia Wang, Jennifer Ellen Posey, Jill Anne Rosenfeld…·Paolo M. Moretti

The paper identifies additional DDX3X variants in individuals with intellectual disability and expands the known phenotypic spectrum of DDX3X disorders.

84 citationstop 3%

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