SynthesiseLife2019
Novel genetic loci affecting facial shape variation in humans.
Open access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in eLife, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed, 3 pooled it
9.1field-weighted citation impact, top 2% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
50 citing papers in PubMed, 3 syntheses or guidelines pooled it, 95 citations in OpenAlex.
- Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.Human molecular genetics · 2025Pooled it
- Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci.PLoS genetics · 2023Pooled it
- Advancement in Human Face Prediction Using DNA.Genes · 2023Pooled it
- Atlas of cell types and regulatory elements underlying human facial diversity.Nature genetics · 2026Article
- Craniofacial features and pathogenic variants in 1,252 children with neurodevelopmental disorders.BMC pediatrics · 2026Article
- Linked genetic loci and genotype-dependent temperature effects shape craniofacial morphology in medaka.G3 (Bethesda, Md.) · 2026Article
- Cis-regulatory evolution shapes facial diversity in birds and mammals.Science advances · 2026Article
- Gene expression dynamics of human and mouse craniofacial development at the single-cell level.Nature communications · 2026Article
- Predicting Physical Appearance from Low Template: State of the Art and Future Perspectives.Genes · 2026Review
- Positional programs in early murine facial development and their role in human facial shape variability.Nature communications · 2025Article
- Association ofInternational journal of molecular sciences · 2025Article
- Forensic skeletal and molecular anthropology face to face: Combining expertise for identification of human remains.Annals of the New York Academy of Sciences · 2025Review
- [Application of HIrisPlex-S System in Forensic DNA Phenotyping].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2025Article
- Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction.Nature communications · 2025Article
- 3D facial imaging: a novel approach for metabolic abnormalities risk profiling.Science China. Life sciences · 2025Article
- Forensic DNA Phenotyping: Examining knowledge and operational view from police officers.Forensic science international. Synergy · 2025Article
- Exploring the association between SNPs and facial morphology in a Spanish population.Scientific reports · 2025Article
- Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS.Communications biology · 2025Article
- Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants.Briefings in bioinformatics · 2025Article
- Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk.bioRxiv : the preprint server for biology · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
50 authors at 19 institutions in 12 countries.
Ziyi Xiong *Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Gabriela Dankova *Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Laurence J HoweMedical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
Myoung Keun LeeCenter for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, United States.
Pirro G HysiDepartment of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom.
Markus A de JongDepartment of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Gu ZhuQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Kaustubh AdhikariDepartment of Genetics, Evolution, and Environment, University College London, London, United Kingdom.ORCID 0000-0001-5825-4191
Dan LiCAS Key Laboratory of Computational Biology, Chinese Academy of Sciences (CAS), Shanghai, China.
Yi LiCAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, University of Chinese Academy of Sciences (CAS), Beijing, China.
Bo PanDepartment of Auricular Reconstruction, Plastic Surgery Hospital, Beijing, China.
Eleanor FeingoldCenter for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, United States.
Mary L MarazitaCenter for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, United States.ORCID 0000-0002-2648-2832
John R ShafferCenter for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, United States.ORCID 0000-0003-1897-1131
Kerrie McAloneyQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Shu-Hua XuCAS Key Laboratory of Computational Biology, Chinese Academy of Sciences (CAS), Shanghai, China.
Li JinCAS Key Laboratory of Computational Biology, Chinese Academy of Sciences (CAS), Shanghai, China.
Sijia WangCAS Key Laboratory of Computational Biology, Chinese Academy of Sciences (CAS), Shanghai, China.
Femke Ms de VrijDepartment of Psychiatry, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.ORCID 0000-0003-0825-3806
Bas LendemeijerDepartment of Psychiatry, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Stephen RichmondApplied Clinical Research and Public Health, University Dental School, Cardiff University, Cardiff, United Kingdom.
Alexei ZhurovApplied Clinical Research and Public Health, University Dental School, Cardiff University, Cardiff, United Kingdom.
Sarah LewisMedical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
Gemma C SharpMedical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.ORCID 0000-0003-2906-4035
Lavinia PaternosterMedical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
Holly ThompsonMedical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
Rolando Gonzalez-JoseInstituto Patagonico de Ciencias Sociales y Humanas, CENPAT-CONICET, Puerto Madryn, Argentina.
Maria Catira BortoliniDepartamento de Genetica, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Samuel Canizales-QuinterosUNAM-Instituto Nacional de Medicina Genomica, Facultad de Quımica, Unidad de Genomica de Poblaciones Aplicada a la Salud, Mexico City, Mexico.
Carla GalloLaboratorios de Investigacion y Desarrollo, Facultad de Ciencias y Filosofıa, Universidad Peruana Cayetano Heredia, Lima, Peru.ORCID 0000-0001-8348-0473
Giovanni PolettiLaboratorios de Investigacion y Desarrollo, Facultad de Ciencias y Filosofıa, Universidad Peruana Cayetano Heredia, Lima, Peru.
Gabriel BedoyaGENMOL (Genetica Molecular), Universidad de Antioquia, Medellın, Colombia.
Francisco RothhammerInstituto de Alta Investigacion, Universidad de Tarapaca, Arica, Chile.
André G UitterlindenDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
M Arfan IkramDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Eppo WolviusDepartment of Oral & Maxillofacial Surgery, Special Dental Care, and Orthodontics, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Steven A KushnerDepartment of Psychiatry, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.ORCID 0000-0002-9777-3338
Tamar Ec NijstenDepartment of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Robert-Jan Ts PalstraDepartment of Biochemistry, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Stefan BoehringerDepartment of Biomedical Data Sciences, Leiden University Medical Center, Leiden, Netherlands.ORCID 0000-0001-9108-9212
Sarah E MedlandQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Kun TangCAS Key Laboratory of Computational Biology, Chinese Academy of Sciences (CAS), Shanghai, China.
Andres Ruiz-LinaresState Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Timothy D Spector *Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom.
Evie Stergiakouli *Medical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
Seth M Weinberg *Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, United States.
Fan Liu *Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Manfred Kayser *Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.ORCID 0000-0002-4958-847X
International Visible Trait Genetics (VisiGen) Consortium
Erasmus MC · NLChinese Academy of Sciences · CNUniversity of Pittsburgh · USQIMR Berghofer Medical Research Institute · AUUniversity of Bristol · GBBeijing Institute of Genomics · CNCardiff University · GBKing's College London · GBLeiden University Medical Center · NLUniversidad Peruana Cayetano Heredia · PEUniversity Of Bristol Dental Hospital · GBCentre National de la Recherche Scientifique · FRCentro Científico Tecnológico Patagónico · ARNational Institute of Genomic Medicine · MXPlastic Surgery Hospital · CNUniversidad de Antioquia · COUniversidade Federal do Rio Grande do Sul · BRUniversity College London · GBUniversity of Tarapacá · CL
Funding
Extending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7MThe Genetic Architecture of Human Facial MorphologyR01DE027023 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI CLAES, PETER, SHAFFER, JOHN R · 2017 to 2024
$5.2M3D Analysis of Normal Facial Variation: Data Repository and Genetics (Research)U01DE020078 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2009 to 2013
$2.0MMedical Research Council 102215/2/13/2Medical Research Council G9815508Medical Research Council MC_PC_15018Medical Research Council MC_PC_19009Medical Research Council MC_UU_00011/1NCBDD CDC HHS R01 DD000295NHLBI NIH HHS HHSN268201200008CNHLBI NIH HHS HHSN268201200008INIDCR NIH HHS R01 DE016148NIDCR NIH HHS R01-DE016148NIDCR NIH HHS R01 DE027023NIDCR NIH HHS R01-DE027023NIDCR NIH HHS U01 DE020078NIDCR NIH HHS U01-DE020078NIDCR NIH HHS U01-DE20078NIDCR NIH HHS X01-HG007821Wellcome Trust
Abstract
The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p < 5 × 10
Indexed as
PhenotypeAdolescentAdultAnatomic LandmarksBody PatterningChildChild, PreschoolFaceFemaleGene Expression Regulation, DevelopmentalGene OntologyGenetic LociGenetic VariationGenome-Wide Association StudyGenotypeHumansEuropeanfacegene regulationgeneticsgenome-wide association studygenomicsGWAShumanimages
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.