2024
Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population
Vanneste M, Hoskens H, Goovaerts S, Matthews H, Devine J, Aponte J, Cole J, Shriver M, Marazita M, Weinberg S, Walsh S, Richmond S, Klein O, Spritz R, Peeters H, Hallgrímsson B, Claes P. Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population. Nature Communications 2024, 15: 10458. PMID: 39622794, PMCID: PMC11612227, DOI: 10.1038/s41467-024-54839-1.Peer-Reviewed Original ResearchConceptsMultivariate GWASMendelian phenotypesComplex traitsPolygenic backgroundMendelian disordersPolygenic basisGenetic variationGenetic variantsGenetic intersectionAchondroplasia phenotypePhenotypic spectrumPhenotypeGenesSkeletal developmentShape axesCraniofacial shapeGWASFacial variationsThree-dimensional facial scansGeneral populationTraitsControl scoresVariationControl samplesVariantsA novel approach to craniofacial analysis using automated 3D landmarking of the skull
Wilke F, Matthews H, Herrick N, Dopkins N, Claes P, Walsh S. A novel approach to craniofacial analysis using automated 3D landmarking of the skull. Scientific Reports 2024, 14: 12381. PMID: 38811771, PMCID: PMC11137148, DOI: 10.1038/s41598-024-63137-1.Peer-Reviewed Original ResearchConceptsHuman skullCone-beam computed tomographyCentroid sizeCranial anatomyBone variationLandmark setsVault regionCraniofacial analysisSkullMorphological researchBone masksEvolutionary underpinningsIntraclass coefficientQuantification of variationCT imageryBone surfaceLandmarksCraniofacial structuresBone phenotypeLevel of concordanceManually placed landmarksShape analysisAutomatic landmarkingSkull scanIndependent observersA 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
2007
Hematoma of the Labia Majora in an Adolescent Girl
Bechtel K, Santucci K, Walsh S. Hematoma of the Labia Majora in an Adolescent Girl. Pediatric Emergency Care 2007, 23: 407-408. PMID: 17572528, DOI: 10.1097/01.pec.0000278399.47999.0b.Peer-Reviewed Original Research