Gilissen C
No ORCID on file
· 3 papers in corpus
· active 2022-2024
Top journals
Frequent coauthors
- Chrast J 2
- Duncan L 2
- Bassani S 2
- Ambrosini G 2
- Brusco A 2
- DeMille D 2
- Butler KM 2
- Arikka H 2
- Bayrak-Toydemir P 2
- Elloumi HZ 2
2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
BackgroundWe previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in…
2024
Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-in…
2022
Study questionAre there more de novo mutations (DNMs) present in the genomes of children born through medical assisted reproduction (MAR) compared to spontaneously conceived children?Summary answerIn this pilot study, no statistically signi…