Author

Sze Chern Lim

Victorian Clinical Genetics ServicesORCID 0000-0003-0312-9937Unclaimed ORCID profile · follow to get notified of new preprints

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

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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