Author

Jet van der Spek

Radboud University Nijmegen

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Aleš MaveriD· 1 shared Alexander J.M. DingemansiD· 1 shared Angelika Rieß· 1 shared Benjamin KamieniD· 1 shared Bert B A De VriesiD· 1 shared Charlotte W. OckeloeniD· 1 shared Christian GilisseniD· 1 shared Christoffer NellåkeriD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aleš MaverORCID

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1 paper

Recent·Most cited

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

Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven, Christoffer Nellåker, Hanka Venselaar, Galuh Astuti, Tahsin Stefan Barakat, Elizabeth Martina Bebin, Stefanie Beck‐Wödl, Gea Beunders, Natasha J. Brown, Theresa Brunet, Han G. Brunner, , 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.

Genetics in Medicine · Mar 25, 2022Peer-reviewedGenetic & Genomic Medicine