Author

Gea Beunders

University Medical Center GroningenORCID 0000-0003-0655-6168Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Philippe M. CampeauiD· 2 shared Ahna M. Rabani· 1 shared Aleš MaveriD· 1 shared Alessandra RenieriiD· 1 shared Alexander J.M. DingemansiD· 1 shared Amelle ShillingtoniD· 1 shared Amy Dobson· 1 shared André ReisiD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Philippe M. CampeauORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 30, 2023

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Elisabeth Bosch, Bernt Popp, Esther Güse…·Georgia Vasileiou

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

DOI 10.1101/2023.03.30.23287962

humanstatistical model

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 25, 2022

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

Jet van der Spek, Joery den Hoed, Lot Snijders Blok…·Tjitske Kleefstra

The paper shows inherited CHD3 variants cause Snijders Blok-Campeau syndrome with variable expressivity, overlapping with de novo variants' phenotypes, and suggests reduced penetrance is not due to expression compensation.

33 citationstop 5%

humanwhole-exome sequencing

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