Author

Norine Voisin

University of LausanneORCID 0000-0001-9479-4179Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Organism:zebrafish· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Organism:mouse· 1

Frequent Co-Authors

Alexandre ReymondiD· 3 shared Nicolas GuexiD· 3 shared Alfredo BruscoiD· 2 shared Binnaz YalciniD· 2 shared Christian GilisseniD· 2 shared Dian Donnai· 2 shared Fabio SirchiaiD· 2 shared Jacqueline Chrast· 2 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Alexandre ReymondORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 14, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini…·Alexandre Reymond

The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.

1 citation

humanzebrafish

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GeneticsThe American Journal of Human GeneticsPeer-reviewedJan 28, 2021

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin…·Lisenka E.L.M. Vissers

The paper identifies mutation-specific pathophysiological mechanisms in SATB1 variants causing distinct neurodevelopmental disorders.

52 citationstop 2%

humanstatistical model

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GeneticsbioRxivPreprintJul 17, 2019

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

Norine Voisin, Rhonda E. Schnur, Sofia Douzgou…·Alexandre Reymond

The paper identifies degron variants in AFF3 causing a multi-system disorder with specific clinical features and demonstrates phenotypic overlap with AFF4-related syndromes.

DOI 10.1101/693937

humanzebrafish

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