Author

Richard Person

Centre Hospitalier Universitaire de BesançonORCID 0009-0006-1063-6661Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:cell type annotation· 1

Frequent Co-Authors

Bert B A De VriesiD· 2 shared Fleur VansenneiD· 2 shared Rolph PfundtiD· 2 shared Sally Ann LynchiD· 2 shared Abbey M. Putnam· 1 shared Abeltje M. Polstra· 1 shared Adam JacksoniD· 1 shared Adi Reich· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 32 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bert B A De VriesORCID

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3 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

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintApr 26, 2022

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

Hannah C. Happ, Lynette Grant Sadleir, Matthew Zemel…·Gemma L. Carvill

The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.

DOI 10.1101/2022.04.26.22274147

humanstatistical model

𝕏 PostBluesky

GeneticsGenetics in MedicinePeer-reviewedAug 3, 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega…·Tahsin Stefan Barakat

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

36 citations

humanstatistical model

𝕏 PostBluesky