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European Journal of Human Genetics (3)
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Showing 1–5 of 5 results

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Insights into the genetic architecture of the human face

A multivariate genome-wide association study identifies 203 signals associated with facial variation. These signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues.

Julie D. White
Karlijne Indencleef
Peter Claes
Research07 Dec 2020
Nature Genetics

Volume: 53, P: 45-53
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Charlotte W. Ockeloen
Kriti D. Khandelwal
Carine E. L. Carels
Research10 Mar 2016
Genetics in Medicine

Volume: 18, P: 1158-1162
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Rosalind Verheije
Gabriel S. Kupchik
Jeroen Breckpot
Research05 Oct 2018
European Journal of Human Genetics

Volume: 27, P: 278-290
Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Kriti D. Khandelwal
Marie-José H. van den Boogaard
Hans van Bokhoven
Research08 Mar 2019
European Journal of Human Genetics

Volume: 27, P: 1101-1112
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

Jeroen Breckpot
Britt-Marie Anderlid
Koen Devriendt
Research06 May 2015
European Journal of Human Genetics

Volume: 24, P: 51-58