Author

Thomy J.L. de Ravel

Universitair Ziekenhuis LeuvenORCID 0000-0002-3361-3781Unclaimed 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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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aiko Iwata‐OtsuboiD· 1 shared Akiko ShimamuraiD· 1 shared Alan E Fryer· 1 shared Amy M. BremaniD· 1 shared Ana BlatnikiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Bekim SadikovićiD· 1 shared Benjamin M. HelmiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aiko Iwata‐OtsuboORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 27, 2023

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

Morad Ansari, Kamli N. W. Faour, Akiko Shimamura…·Philip M. Boone

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

1 citation

humanDNA methylation

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