Author

Sylvia Redon

InsermORCID 0000-0001-7310-1142Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Kévin UgueniD· 4 shared Anita M. RauchiD· 2 shared Cara M. SkrabaniD· 2 shared Caroline Bénech· 2 shared Claude FéreciD· 2 shared Séverine Audebert‐Bellanger· 2 shared Ada HamoshiD· 1 shared Alan H. BeggsiD· 1 shared

Activity by Year

2021-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Kévin UguenORCID

Mutual co-authors in cluster

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4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 19, 2023

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

Annelise Yoo Mah-Som, Jil Daw, Diana Huynh…·Marwan S. Shinawi

The paper identifies novel VCP variants causing a childhood-onset neurodevelopmental disorder through exome sequencing and functional analysis.

DOI 10.1101/2023.06.19.23291232

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintSep 29, 2022

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano…·Gregory M. Cooper

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

DOI 10.1101/2022.09.29.22279724

humanstatistical model

𝕏 PostBluesky

GenomicsHuman GenomicsPeer-reviewedJul 13, 2021

De Novo Mutation in an Enhancer of EBF3 in simplex autism

Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng…·Tychele N. Turner

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.

27 citations

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 3, 2021

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny F. Lai…·Timothy W. Yu

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

84 citationstop 3%

humanbulk RNA-seq

𝕏 PostBluesky