2024
A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis
Mohammed J, Arora N, Matthews H, Hansen K, Bader M, Walsh S, Shaffer J, Weinberg S, Swigut T, Claes P, Selleri L, Wysocka J. A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis. ELife 2024, 13: e82564. PMID: 38483448, PMCID: PMC10939500, DOI: 10.7554/elife.82564.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSingle nucleotide polymorphismsGenome-wide association study studiesDisease predispositionComplex morphological traitsEmbryonic cell typesSkull elementsCognate enhancersAssociation studiesAssociated with quantitative changesPhenotypic traitsPhenotypic variationMorphological traitsJaw shapeNucleotide polymorphismsGenetic variantsMorphological variationTyrosine kinaseCell typesNormal rangeRisk of non-syndromic orofacial cleftsFacial morphogenesisNon-syndromic orofacial cleftsHuman populationSkeletal development
2023
Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape
Goovaerts S, Hoskens H, Eller R, Herrick N, Musolf A, Justice C, Yuan M, Naqvi S, Lee M, Vandermeulen D, Szabo-Rogers H, Romitti P, Boyadjiev S, Marazita M, Shaffer J, Shriver M, Wysocka J, Walsh S, Weinberg S, Claes P. Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape. Nature Communications 2023, 14: 7436. PMID: 37973980, PMCID: PMC10654897, DOI: 10.1038/s41467-023-43237-8.Peer-Reviewed Original Research