The DOI matches its Crossref record; 113 of the 115 references it cites were found in a registry or an index.
Insights into the genetic architecture of the human face
Open accessPublished version of a preprint
Abstract
The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses indicate that the regions surrounding these signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple signals with associations to different facial phenotypes, and there is evidence for potential coordinated actions of variants. In summary, our analyses provide insights into the understanding of how complex morphological traits are shaped by both individual and coordinated genetic actions.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“A significant portion of the 16 ear-related loci discussed here have been shown to have strong ties to human facial structure [8,15,21,22,30].”
From Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci (2023) · cites this paper as [30]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
1 retracted
Li, Y., Zhao, W., Li, D., Tao, X., Xiong, Z., Liu, J., Zhang, W., Ji, A., Tang, K., Liu, F., et al. (2019) · Human Genetics · doi:10.1007/s00439-019-02023-7 · Cited by 25
Retractedlavaan : An R Package for Structural Equation Modeling
Rosseel, Y. (2012) · Journal of Statistical Software · doi:10.18637/jss.v048.i02 · Cited by 27,955
A global reference for human genetic variation
The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247
Self-citationAn integrated encyclopedia of DNA elements in the human genome
The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072
Second-generation PLINK: rising to the challenge of larger and richer datasets
Chang, C. C., Chow, C. C., Tellier, L. C., Vattikuti, S., Purcell, S. M., & Lee, J. J. (2015) · Gigascience · doi:10.1186/s13742-015-0047-8 · Cited by 12,709
Circos: An information aesthetic for comparative genomicsPreprint
Krzywinski, M. I., Schein, J. E., Birol, İ., Connors, J. M., Gascoyne, R. D., Horsman, D. E., Jones, S. J. M., & Marra, M. A. (2009) · Genome Research · doi:10.1101/gr.092759.109 · Cited by 11,073
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711
Reporting Structural Equation Modeling and Confirmatory Factor Analysis Results: A Review
Schreiber, J. B., Nora, A., Stage, F. K., Barlow, E. A., & King, J. (2006) · The Journal of Educational Research · doi:10.3200/joer.99.6.323-338 · Cited by 6,937
Integrative analysis of 111 reference human epigenomes
Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., et al. (2015) · Nature · doi:10.1038/nature14248 · Cited by 6,368
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bulik-Sullivan, B. K., Loh, P.-R., Finucane, H. K., Ripke, S., Yang, J., Patterson, N., Daly, M. J., Price, A. L., & Neale, B. M. (2015) · Nature Genetics · doi:10.1038/ng.3211 · Cited by 5,559
Cited by
Sorted by citations
Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution
Pollen, A. A., Kilik, U., Lowe, C. B., & Camp, J. G. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-022-00568-4 · Cited by 165
Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age
Kayser, M., Branicki, W., Parson, W., & Phillips, C. (2023) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2023.102870 · Cited by 148
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity
Naqvi, S., Kim, S., Hoskens, H., Matthews, H. S., Spritz, R. A., Klein, O. D., Hallgrímsson, B., Swigut, T., Claes, P., Pritchard, J. K., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01366-2 · Cited by 132
Self-citationShared heritability of human face and brain shape
Naqvi, S., Sleyp, Y., Hoskens, H., Indencleef, K., Spence, J. P., Bruffaerts, R., Radwan, A., Eller, R. J., Richmond, S., Shriver, M. D., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00827-w · Cited by 100
Self-citationDNA-guided transcription factor cooperativity shapes face and limb mesenchyme
Kim, S., Morgunova, E. Y., Naqvi, S., Goovaerts, S., Bader, M., Koska, M., Popov, A. N., Luong, C., Pogson, A. N., Swigut, T., et al. (2024) · Cell · doi:10.1016/j.cell.2023.12.032 · Cited by 83
Self-citationDingemans, A. J. M., Hinne, M., Truijen, K. M. G., Goltstein, L. C. M. J., van Reeuwijk, J., de Leeuw, N., Schuurs-Hoeijmakers, J. H. M., Pfundt, R., Diets, I. J., den Hoed, J., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01469-w · Cited by 79
Machine learning applications in forensic DNA profiling: A critical review
Barash, M., McNevin, D. B., Fedorenko, V. A., & Giverts, P. (2023) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2023.102994 · Cited by 78
Shaping faces: genetic and epigenetic control of craniofacial morphogenesis
Selleri, L., & Rijli, F. M. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-023-00594-w · Cited by 70
Genetic variants underlying differences in facial morphology in East Asian and European populations
Zhang, M., Wu, S., Du, S., Qian, W., Chen, J., Qiao, L., Yang, Y., Tan, J., Yuan, Z., Peng, Q., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01038-7 · Cited by 67
Self-citationNaqvi, S., Hoskens, H., Wilke, F., Weinberg, S. M., Shaffer, J. R., Walsh, S., Shriver, M. D., Wysocka, J., & Claes, P. D. (2022) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120121-102607 · Cited by 53
Self-citationMatthews, H. S., Palmer, R., Baynam, G. S., Quarrell, O., Klein, O. D., Spritz, R. A., Hennekam, R. C. M., Walsh, S., Shriver, M. D., Weinberg, S. M., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-91465-z · Cited by 43
Self-citationShull, L. C., Kim, H. M., Lencer, E. S., Goyama, S., Kurokawa, M., Costello, J. C., Jones, K. L., & Artinger, K. (2022) · Development · doi:10.1242/dev.200082 · Cited by 36
Combining genome-wide association studies highlight novel loci involved in human facial variation
Xiong, Z., Gao, X., Chen, Y., Feng, Z., Pan, S., Lu, H., Uitterlinden, A. G., Nijsten, T., Ikram, A., Rivadeneira, F., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-35328-9 · Cited by 37
Cheng, H., Zhang, Z., Wen, J., Lenstra, J. A., Heller, R., Cai, Y., Guo, Y., Li, M., Li, R., Li, W., et al. (2023) · PLoS Genetics · doi:10.1371/journal.pgen.1010615 · Cited by 39
Dahal, A., McNevin, D. B., Chikhani, M., & Ward, J. (2023) · Wiley Interdisciplinary Reviews Forensic Science · doi:10.1002/wfs2.1484 · Cited by 50
Li, Q., Chen, J., Faux, P., Delgado, M., Bonfante, B., Fuentes‐Guajardo, M., Mendoza‐Revilla, J., Chacón-Duque, J. C., Hurtado, M., Villegas, V., et al. (2023) · Communications Biology · doi:10.1038/s42003-023-04838-7 · Cited by 36
Dynamic enhancer landscapes in human craniofacial development
Rajderkar, S., Paraiso, K. D., Amaral, M. L., Kosicki, M., Cook, L., Darbellay, F., Spurrell, C. H., Osterwalder, M., Zhu, Y., Wu, H., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-46396-4 · Cited by 36
Polygenic adaptation leads to a higher reproductive fitness of native Tibetans at high altitude
He, Y., Guo, Y., Zheng, W., Yue, T., Zhang, H., Wang, B., Feng, Z., Ouzhuluobu, Cui, C., Liu, K., et al. (2023) · Current Biology · doi:10.1016/j.cub.2023.08.021 · Cited by 31
External visible characteristics prediction through SNPs analysis in the forensic setting: a review
Tozzo, P., Politi, C., Delicati, A., Gabbin, A., & Caenazzo, L. (2021) · Frontiers in Bioscience-Landmark · doi:10.52586/4991 · Cited by 33
3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies
Hoskens, H., Liu, D., Naqvi, S., Lee, M. K., Eller, R. J., Indencleef, K., White, J. D., Li, J., Larmuseau, M., Hens, G., et al. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009528 · Cited by 32
Self-citationAssessing Privacy Vulnerabilities in Genetic Data Sets: Scoping Review
Thomas, M., Mackes, N. K., Preuss-Dodhy, A., Wieland, T., & Bundschus, M. (2024) · JMIR Bioinformatics and Biotechnology · doi:10.2196/54332 · Cited by 31
Look-alike humans identified by facial recognition algorithms show genetic similarities
Joshi, R. S., Rigau, M., García-Prieto, C. A., de Moura, M. C., Piñeyro, D., Morán, S., Dávalos, V., Carrión, P., Ferrando-Bernal, M., Olalde, Í., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111257 · Cited by 32
Caton, N. R., & Dixson, B. J. W. (2022) · Biology Letters · doi:10.1098/rsbl.2022.0211 · Cited by 28
Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape
Goovaerts, S., Hoskens, H., Eller, R. J., Herrick, N., Musolf, A. M., Justice, C. M., Yuan, M., Naqvi, S., Lee, M. K., Vandermeulen, D., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-43237-8 · Cited by 28
Self-citationBertól, J. W., Johnston, S., Ahmed, R., Xie, V. K., Hubka, K. M., Cruz, L. A., Nitschke, L., Stetsiv, M., Goering, J. P., Nistor, P., et al. (2022) · Development · doi:10.1242/dev.200068 · Cited by 29
Self-citationLiu, C., Lee, M. K., Naqvi, S., Hoskens, H., Liu, D., White, J. D., Indencleef, K., Matthews, H. S., Eller, R. J., Li, J., et al. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009695 · Cited by 30
Self-citationMETTL3 modulates chromatin and transcription dynamics during cell fate transition
Liu, X., Mao, Y., Wang, S., Zhou, J. L., & Qian, S. (2022) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-022-04590-x · Cited by 25
The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation
Indencleef, K., Hoskens, H., Lee, M. K., White, J. D., Liu, C., Eller, R. J., Naqvi, S., Wehby, G. L., Uribe, L. M. M., Hecht, J. T., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.626403 · Cited by 29
Self-citationPredicting Physical Appearance from DNA Data—Towards Genomic Solutions
Pośpiech, E., Teisseyre, P., Mielniczuk, J., & Branicki, W. (2022) · Genes · doi:10.3390/genes13010121 · Cited by 25
Naqvi, S., Kim, S., Tabatabaee, S., Pampari, A., Kundaje, A., Pritchard, J. K., & Wysocka, J. (2025) · Cell Genomics · doi:10.1016/j.xgen.2025.100780 · Cited by 18
Self-citationThe PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip
Curtis, S. W., Chang, D., Lee, M. K., Shaffer, J. R., Indencleef, K., Epstein, M. P., Cutler, D. J., Murray, J. C., Feingold, E., Beaty, T. H., et al. (2021) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2021.100025 · Cited by 21
Self-citationThe heterogeneous genetic architectures of orofacial clefts
Robinson, K. R., Curtis, S. W., & Leslie, E. J. (2024) · Trends in Genetics · doi:10.1016/j.tig.2024.02.004 · Cited by 20
Feng, Z., Duren, Z., Xiong, Z., Wang, S., Liu, F., Wong, W. H., & Wang, Y. (2021) · Communications Biology · doi:10.1038/s42003-021-01970-0 · Cited by 20
Forensic DNA phenotyping: Inferring phenotypic traits from crime scene DNA
Dabas, P., Jain, S. G., Khajuria, H., & Nayak, B. P. (2022) · Journal of Forensic and Legal Medicine · doi:10.1016/j.jflm.2022.102351 · Cited by 25
Wilderman, A. S., D’haene, E., Baetens, M., Yankee, T. N., Winchester, E. W., Glidden, N. C., Roets, E., Dorpe, J. V., Janssens, S., Miller, D. E., et al. (2024) · Nature Communications · doi:10.1038/s41467-023-44506-2 · Cited by 21
Advancement in Human Face Prediction Using DNA
Alshehhi, A., Almarzooqi, A., Alhammadi, K., Werghi, N., Tay, G. K., & AlSafar, H. S. (2023) · Genes · doi:10.3390/genes14010136 · Cited by 18
Connecting the dots towards precision orthodontics
Kapila, S., Vora, S. R., Venugopalan, S. R., Elnagar, M. H., & Akyalçın, S. (2023) · Orthodontics and Craniofacial Research · doi:10.1111/ocr.12725 · Cited by 23
Zug, R., & Uller, T. (2022) · Evolutionary Human Sciences · doi:10.1017/ehs.2022.42 · Cited by 16
Craniofacial developmental biology in the single-cell era
Tseng, K.-C., & Crump, J. G. (2023) · Development · doi:10.1242/dev.202077 · Cited by 18
Using data‐driven phenotyping to investigate the impact of sex on 3D human facial surface morphology
Matthews, H. S., Mahdi, S. S., Penington, A., Marazita, M. L., Shaffer, J. R., Walsh, S., Shriver, M. D., Claes, P. D., & Weinberg, S. M. (2023) · Journal of Anatomy · doi:10.1111/joa.13866 · Cited by 16
Self-citationPilli, E., Palamenghi, A., & Cattaneo, C. (2025) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.15398 · Cited by 17
MiRNA-149 as a Candidate for Facial Clefting and Neural Crest Cell Migration
Stuessel, L. G., Hollstein, R., Laugsch, M., Hochfeld, L. M., Welzenbach, J., Schröder, J., Thieme, F., Ishorst, N., Romero, R. O., Weinhold, L., et al. (2021) · Journal of Dental Research · doi:10.1177/00220345211038203 · Cited by 12
GRHL2 and AP2a coordinate early surface ectoderm lineage commitment during development
Collier, A., Piekos, S. N., Liu, A., Pattison, J. M., Felix, F., Bailetti, A. A., Sedov, E., Gaddam, S., Zhen, H. H., & Oro, A. E. (2023) · iScience · doi:10.1016/j.isci.2023.106125 · Cited by 12
Aponte, J. D., Katz, D. C., Roth, D. M., Vidal‐García, M., Liu, W., Andrade, F., Roseman, C. C., Murray, S. A., Cheverud, J. M., Graf, D., et al. (2021) · eLife · doi:10.7554/elife.68623 · Cited by 14
Chen, Q., Dai, J., & Bian, Q. (2022) · Science Advances · doi:10.1126/sciadv.abo3648 · Cited by 11
Influence of the nutritional status on facial morphology in young Japanese women
Tanikawa, C., Kurata, M., 谷崎典子, Takeuchi, M., Zere, E., Fukuo, K., & Takada, K. (2022) · Scientific Reports · doi:10.1038/s41598-022-21919-5 · Cited by 10
TATTOO-seq delineates spatial and cell type–specific regulatory programs in the developing limb
Bastide, S., Chomsky, E., Saudemont, B., Loe-Mie, Y., Schmutz, S., Novault, S., Marlow, H., Tanay, A., & Spitz, F. (2022) · Science Advances · doi:10.1126/sciadv.add0695 · Cited by 8
Vanneste, M., Hoskens, H., Goovaerts, S., Matthews, H. S., Devine, J., Aponte, J. D., Cole, J. B., Shriver, M. D., Marazita, M. L., Weinberg, S. M., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-54839-1 · Cited by 13
Self-citationLow to Moderate Prenatal Alcohol Exposure and Facial Shape of Children at Age 6 to 8 Years
Muggli, E., Matthews, H. S., Suttie, M., Halliday, J. L., Penington, A., Elliott, E. J., Thompson, D. K., Spittle, A. J., Hearps, S. J. C., Anderson, P. J., et al. (2025) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/jamapediatrics.2024.6151 · Cited by 9
Self-citationXiong, Z., Li, Y., Liu, X., Lu, H., Hysi, P. G., Pardo, L. M., Uitterlinden, A. G., Rivadeneira, F., Ikram, M. A., Ghanbari, M., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-61761-7 · Cited by 13
Self-citationForensic genetics in the omics era
Kayser, M. (2025) · Nature Reviews Genetics · doi:10.1038/s41576-025-00896-1 · Cited by 14
Qian, W., Zhang, M., Wan, K., Xie, Y.-X., Du, S., Li, J., Mu, X., Qiu, J., Xue, X., Zhuang, X., et al. (2022) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2022.02.020 · Cited by 11
Self-citationMiller, K. A., Walma, D. A. C., Pinkas, D. M., Tooze, R. S., Bufton, J. C., Richardson, W. A., Manning, C., Hunt, A. E., Cros, J., Hartill, V. L., et al. (2024) · Journal of Medical Genetics · doi:10.1136/jmg-2023-109531 · Cited by 10
Xie, M., Kaiser, M., Gershtein, Y., Schnyder, D., Deviatiiarov, R. M., Gazizova, G. R., Shagimardanova, E. I., Zikmund, T., Kerckhofs, G., Ivashkin, E. G., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-46030-3 · Cited by 10
Impact of low-frequency coding variants on human facial shape
Liu, D., Alhazmi, N., Matthews, H. S., Lee, M. K., Li, J., Hecht, J. T., Wehby, G. L., Moreno, L. M., Heike, C. L., Roosenboom, J., et al. (2021) · Scientific Reports · doi:10.1038/s41598-020-80661-y · Cited by 11
Self-citationThe effects of Tbx15 and Pax1 on facial and other physical morphology in mice
Qian, Y., Xiong, Z., Li, Y., Kayser, M., Liu, L., & Liu, F. (2021) · FASEB BioAdvances · doi:10.1096/fba.2021-00094 · Cited by 10
Multi-Scale Part-Based Syndrome Classification of 3D Facial Images
Mahdi, S. S., Matthews, H. S., Nauwelaers, N., Vanneste, M., Gong, S., Bouritsas, G., Baynam, G. S., Hammond, P., Spritz, R. A., Klein, O. D., et al. (2022) · IEEE Access · doi:10.1109/access.2022.3153357 · Cited by 10
Self-citationParkinson’s disease-associated genetic variants synergistically shape brain networksPreprint
Chen, Z., Wu, B., Li, G., Zhou, L., Zhang, L., & Liu, J. (2022) · medRxiv · doi:10.1101/2022.12.25.22283938 · Cited by 10
Li, Y., Xiong, Z., Zhang, M., Hysi, P. G., Qian, Y., Adhikari, K., Weng, J., Wu, S., Du, S., Gonzalez-Jose, R., et al. (2023) · PLOS Genetics · doi:10.1371/journal.pgen.1010786 · Cited by 9
“A significant portion of the 16 ear-related loci discussed here have been shown to have strong ties to human facial structure [8,15,21,22,30].”
BackgroundSelf-citationGenetic architecture of orbital telorism
Knol, M. J., Pawlak, M. A., Lamballais, S., Terzikhan, N., Hofer, E., Xiong, Z., Klaver, C. C. W., Pirpamer, L., Vernooij, M. W., Ikram, M. A., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab334 · Cited by 9
Main, L. R., Song, Y. E., Lynn, A., Laux, R. A., Miskimen, K. L. S., Osterman, M. D., Cuccaro, M. L., Ogrocki, P. K., Lerner, A. J., Vance, J. M., et al. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.14045 · Cited by 8
Oral and craniofacial research in the Generation R study: an executive summary
Lunteren, A. W. V. M.-V., Liu, X., Veenman, F., Grgić, O., Dhamo, B., van der Tas, J. T., Prijatelj, V., Roshchupkin, G. V., Rivadeneira, F., Wolvius, E. B., et al. (2023) · Clinical Oral Investigations · doi:10.1007/s00784-023-05076-1 · Cited by 9
Khouri‐Farah, N., Winchester, E. W., Schilder, B. M., Robinson, K. R., Curtis, S. W., Skene, N., Leslie, E. J., & Cotney, J. L. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.01.18.633396 · Cited by 11
Weinberg, S. M. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.891502 · Cited by 10
Self-citationAn Anthropometric Study of the Morphologic Facial Index of Tibetan Youth in Tibet
Zhong, H., & Tong, Q. (2023) · Journal of Craniofacial Surgery · doi:10.1097/scs.0000000000009766 · Cited by 8
An interactive atlas of three-dimensional syndromic facial morphology
Aponte, J. D., Bannister, J. J., Hoskens, H., Matthews, H. S., Katsura, K. A., Silva, C. D., Cruz, T., Pilz, J. H. M., Spritz, R. A., Forkert, N. D., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.11.011 · Cited by 9
Self-citationMapping genes for human face shape: Exploration of univariate phenotyping strategies
Yuan, M., Goovaerts, S., Vanneste, M., Matthews, H. S., Hoskens, H., Richmond, S., Klein, O. D., Spritz, R. A., Hallgrímsson, B., Walsh, S., et al. (2024) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1012617 · Cited by 8
Self-citationThe Neanderthal brain: Biological and cognitive evolution
Macciardi, F. M., & Martini, F. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-821428-2.00008-1 · Cited by 8
PRICKLE1 × FOCAD Interaction Revealed by Genome-Wide vQTL Analysis of Human Facial Traits
Liu, D., Ban, H., Sergani, A. M. E., Lee, M. K., Hecht, J. T., Wehby, G. L., Moreno, L. M., Feingold, E., Marazita, M. L., Cha, S., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.674642 · Cited by 7
Self-citationMulti-ancestry Genome Wide Association Study Meta-analysis of Non-syndromic Orofacial CleftsPreprint
Jia, Z., Mukhopadhyay, N., Zheng-Lin, Y. A. N. G., Butali, A., Sun, J., You, Y., Yao, M., Zhen, Q., Ma, J., He, M., et al. (2024) · medRxiv · doi:10.1101/2024.12.06.24318522 · Cited by 8
Self-citationGoovaerts, S., Naqvi, S., Hoskens, H., Herrick, N., Yuan, M., Shriver, M. D., Shaffer, J. R., Walsh, S., Weinberg, S. M., Wysocka, J., et al. (2025) · Communications Biology · doi:10.1038/s42003-025-07875-6 · Cited by 9
Self-citationGene expression dynamics of human and mouse craniofacial development at the single-cell level
Khouri‐Farah, N., Manchel, A., Winchester, E. W., Schilder, B. M., Robinson, K. R., Curtis, S. W., Skene, N., Leslie, E. J., & Cotney, J. L. (2026) · Nature Communications · doi:10.1038/s41467-026-70232-6 · Cited by 9
A novel approach to craniofacial analysis using automated 3D landmarking of the skull
Wilke, F., Matthews, H. S., Herrick, N., Dopkins, N., Claes, P. D., & Walsh, S. (2024) · Scientific Reports · doi:10.1038/s41598-024-63137-1 · Cited by 7
Self-citationExpert Consensus on Big Data Collection of Skin and Appendage Disease Phenotypes in Chinese
Zhao, S., Luo, Z., Wang, Y., Gao, X., Tao, J., Cui, Y., Chen, A., Cai, D., Ding, Y., Gu, H., et al. (2024) · Phenomics · doi:10.1007/s43657-023-00142-w · Cited by 8
Dack, K., Ludwig, K. U., Stergiakouli, E., Sandy, J. R., Aryee, S. N. D., Smith, G. D., Davies, A., Wren, Y. E., Sharp, G. C., Humphries, K., et al. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddaf131 · Cited by 6
Autio, A. H., Paavola, J., Tervonen, J., Lång, M., Huuskonen, T. J., Huttunen, J., Kärkkäinen, V., zu Fraunberg, M. V. U., Lindgren, A., Koivisto, T., et al. (2023) · Acta Neurochirurgica · doi:10.1007/s00701-022-05473-7 · Cited by 6
Mohammed, J., Arora, N., Matthews, H. S., Hansen, K. L., Bader, M., Walsh, S., Shaffer, J. R., Weinberg, S. M., Swigut, T., Claes, P. D., et al. (2024) · eLife · doi:10.7554/elife.82564 · Cited by 6
Self-citationPhenoScore: AI-based phenomics to quantify rare disease and genetic variationPreprint
Dingemans, A. J. M., Hinne, M., Truijen, K. M. G., Goltstein, L. C. M. J., van Reeuwijk, J., de Leeuw, N., Schuurs-Hoeijmakers, J. H. M., Pfundt, R., Diets, I. J., den Hoed, J., et al. (2022) · medRxiv · doi:10.1101/2022.10.24.22281480 · Cited by 6
Facial modeling and measurement based upon homologous topographical features
Wisetchat, S., Stevens, K. A., & Frost, S. R. (2024) · PLoS ONE · doi:10.1371/journal.pone.0304561 · Cited by 5
Milani, C., Zangari, F., Cilli, E., & Gruppioni, G. (2022) · Digital Applications in Archaeology and Cultural Heritage · doi:10.1016/j.daach.2022.e00242 · Cited by 5
The impact of breastfeeding on facial appearance in adolescent children
Goovaerts, S., Sergani, A. M. E., Lee, M. K., Shaffer, J. R., Claes, P. D., & Weinberg, S. M. (2024) · PLoS ONE · doi:10.1371/journal.pone.0310538 · Cited by 5
Self-citation3D analysis of facial morphology in Dutch children with cancer
Postema, F. A. M., Matthews, H. S., Hopman, S. M. J., Merks, J. H. M., Suttie, M., Hoskens, H., Peeters, H., Hennekam, R. C. M., Claes, P. D., & Hammond, P. (2021) · Computer Methods and Programs in Biomedicine · doi:10.1016/j.cmpb.2021.106093 · Cited by 5
Self-citationTan, D. W., Gilani, S. Z., Alvares, G. A., Mian, A. S., Whitehouse, A., & Maybery, M. T. (2022) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2022.0143 · Cited by 6
Exploring regional aspects of 3D facial variation within European individuals
Wilke, F., Herrick, N., Matthews, H. S., Hoskens, H., Singh, S., Shaffer, J. R., Weinberg, S. M., Shriver, M. D., Claes, P. D., & Walsh, S. (2023) · Scientific Reports · doi:10.1038/s41598-023-30855-x · Cited by 6
Self-citationBET activity plays an essential role in control of stem cell attributes in Xenopus
Huber, P. B., Rao, A. N., & LaBonne, C. (2024) · Development · doi:10.1242/dev.202990 · Cited by 5
PRDM paralogs are required for Meckel's cartilage formation during mandibular bone development
Denipah-Cook, Q., Saxton, B., Artinger, K., & Shull, L. C. (2025) · Developmental Biology · doi:10.1016/j.ydbio.2025.12.002 · Cited by 4
Murillo‐Rincón, A. P., Seton, L. W. G., Escamilla-Vega, E., Damatac, A. M., Fuß, J., Fortmann-Grote, C., & Kaucká, M. (2025) · Nature Communications · doi:10.1038/s41467-025-66017-y · Cited by 4
Behaviors Speak More: Achieving User Authentication Leveraging Facial Activities via mmWave Sensing
Jiang, C., Yu, S., Fu, J., Lin, C., Zhu, H., Ma, X., Li, M., & Guo, L. (2024) · ACM Conference on Embedded Networked Sensor Systems (SenSys) · doi:10.1145/3666025.3699330 · Cited by 4
Wu, D., Chen, R., Zhang, J., Yan, W., Chen, M., Xia, D., Li, X., Dai, Y., Chen, Y., & Li, R. (2025) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-025-01839-6 · Cited by 4
Deep Facial Phenotyping with Mixup Augmentation
Campbell, J., Dawson, M., Zisserman, A., Xie, W., & Nellåker, C. (2023) · Lecture notes in computer science · doi:10.1007/978-3-031-48593-0_10 · Cited by 4
Genetic mechanisms underlying East Asian and European Facial differentiationPreprint
Wang, S., Zhang, M., Wu, S., Du, S., Qian, W., Chen, K. J., Qiao, L., Yang, Y., Tan, J., Navarro, N., et al. (2021) · Research Square · doi:10.21203/rs.3.rs-604881/v1 · Cited by 4
Self-citationJoint Multi-Ancestry and Admixed GWAS Reveals the Complex Genetics behind Human Cranial Vault ShapePreprint
Goovaerts, S., Hoskens, H., Eller, R. J., Herrick, N., Musolf, A. M., Justice, C. M., Yuan, M., Naqvi, S., Lee, M. K., Vandermeulen, D., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.12.01.518684 · Cited by 4
Self-citationImaging genomics reveals genetic architecture of the globular human braincasePreprint
Molz, B., Eising, E., Alagöz, G., Schijven, D., Francks, C., Gunz, P., & Fisher, S. E. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.03.20.585712 · Cited by 9
Data-driven trait heritability-based extraction of human facial phenotypes
Yuan, M., Goovaerts, S., Hoskens, H., Richmond, S., Walsh, S., Shriver, M. D., Shaffer, J. R., Marazita, M. L., Weinberg, S. M., Peeters, H., et al. (2023) · IEEE International Conference on Bioinformatics and Biomedicine (BIBM) · doi:10.1109/bibm58861.2023.10385885 · Cited by 3
Self-citationGenetic problems of DNA portrait as part of DNA phenotyping: A review
Chemeris, A. V., Khalikov, A. A., Гарафутдинов, Р. Р., Chemeris, D. A., Sakhabutdinova, A. R., KHALIULLINA, A. F., Galyautdinov, R. R., Sagidullin, R. H., & АМИНЕВ, Ф. Г. (2024) · Russian Journal of Forensic Medicine · doi:10.17816/fm16167 · Cited by 3
Yuan, M., Goovaerts, S., Lee, M. K., Devine, J., Richmond, S., Walsh, S., Shriver, M. D., Shaffer, J. R., Marazita, M. L., Peeters, H., et al. (2025) · Briefings in Bioinformatics · doi:10.1093/bib/bbaf090 · Cited by 3
Self-citationEthics of Face Recognition in Smart Cities Toward Trustworthy AI
Tao, M., Jiang, R., & Downs, C. (2022) · Advanced sciences and technologies for security applications · doi:10.1007/978-3-031-04424-3_2 · Cited by 3
Refacing Defaced MRI with PixelCNN
Xiao, Y., Ashbee, W. S., Calhoun, V. D., & Plis, S. (2022) · International Joint Conference on Neural Networks (IJCNN) · doi:10.1109/ijcnn55064.2022.9891937 · Cited by 3
Li, Z., Melograna, F., Hoskens, H., Duroux, D., Marazita, M. L., Walsh, S., Weinberg, S. M., Shriver, M. D., Müller‐Myhsok, B., Claes, P. D., et al. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1286800 · Cited by 3
Self-citationQuantitative analysis of facial shape in children to support respirator design.
Nemeth, C., Hoskens, H., Wilson, G., Jones, M., DiPietrantonio, J., Salami, B., Harnish, D., Claes, P., Weinberg, S. M., Shriver, M., et al. (2024) · Applied Ergonomics · doi:10.1016/j.apergo.2024.104375 · Cited by 2
Self-citation
Metadata
- Authors
- White, J. D., Indencleef, K., Naqvi, S., Eller, R. J., Hoskens, H., Roosenboom, J., Lee, M. K., Li, J., Mohammed, J., Richmond, S., Quillen, E. E., Norton, H. L., Feingold, E., Swigut, T., Marazita, M. L., Peeters, H., Hens, G., Shaffer, J. R., Wysocka, J., Walsh, S., Weinberg, S. M., Shriver, M. D., & Claes, P.
- Affiliations
- Pennsylvania State University (US)
- Universitair Ziekenhuis Leuven (BE)
- Stanford Medicine (US)
- Indiana University – Purdue University Indianapolis (US)
- University of Pittsburgh (US)
- Cardiff University (GB)
- Wake Forest University Health Sciences (US)
- University of Cincinnati (US)
- KU Leuven (BE)
- Howard Hughes Medical Institute (US)
- Corresponding author
- White, Julie D.
- Indencleef, Karlijne
- Claes, Peter
- ORCID
- White, Julie D.
- Indencleef, Karlijne
- Naqvi, Sahin
- Eller, Ryan J.
- Hoskens, Hanne
- Roosenboom, Jasmien
- Lee, Myoung Keun
- Li, Jiarui
- Mohammed, Jaaved
- Richmond, Stephen
- Quillen, Ellen E.
- Norton, Heather L.
- Feingold, Eleanor
- Swigut, Tomek
- Marazita, Mary L.
- Peeters, Hilde
- Hens, Greet
- Shaffer, John R.
- Wysocka, Joanna
- Walsh, Susan
- Weinberg, Seth M.
- Shriver, Mark D.
- Claes, Peter
- Venue
- Nature Genetics
- Published
- 2020-12-07
- Volume
- 53
- Issue
- 1
- Pages
- 45-53
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC7796995
- OpenAlex
- W3113354915
- Cited by
- 166
- References
- 115
- Citations by year
- 2026: 22 · 2025: 29 · 2024: 30 · 2023: 27 · 2022: 32 · 2021: 24 · 2020: 2
- FWCI
- 12.46
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- Locations
- Nature Genetics (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Lirias (submittedVersion, other-oa)
- Funders
- U.S. Department of Defense
- Howard Hughes Medical Institute
- March of Dimes Foundation (1-FY15-312)
- University of Pennsylvania
- University of Washington
- University of Cincinnati
- Indiana University-Purdue University Indianapolis
- Pennsylvania State University
- Wellcome Trust (102215/2/13/2), 217065/Z/19/Z)
- University of California Research Initiatives
- University of Bristol (102215/2/13/2)
- Fonds Wetenschappelijk Onderzoek (G078518N)
- KU Leuven (C14/15/081, C14/20/081, BOF‐C1)
- Vlaamse regering (G078518N)
- National Institutes of Health (X01-HG007485, HHSN268201200008I, HG007485, 102215/2/13/2)
- University of Illinois at Urbana-Champaign
- Medical Research Council (102215, ref: 102215/2/13/2, 102215/2/13/2, MC_PC_15018, MC_PC_19009)
- National Heart, Lung, and Blood Institute (HHSN268201200008I, HHSN268201200008C)
- National Human Genome Research Institute (X01‐HG007485, X01‐HG007821)
- National Institute of Dental and Craniofacial Research (DE-016148, #HHSN268201200008I, R01DE027023, R01DE016148, U01DE020078, U01DE024430, DE027023, X01-HG007821, U01-DE020078, R01-DE016148, and R01-DE027023)
- National Institute of Justice (-R2-CX-, 2008-DN-BX-K125, 2015-R2-CX-0023, 2014-DN-BX-K031, 2018-DU-BX-0219)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Agricultural and Biological Sciences › Ecology, Evolution, Behavior and Systematics › Morphological variations and asymmetry
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- human face, facial morphology, genetic architecture, facial variation, cranial neural crest cells, enhancer activity, gene-gene interaction, European populations
- MeSH terms
- Acetylation, Enhancer Elements, Genetic, Epistasis, Genetic, Extremities, Face, United Kingdom, Histones, Humans, Lysine, Neural Crest, Phenotype, Skull, United States, Meta-Analysis as Topic, Multivariate Analysis, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Genetic Loci
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
