Insights into the genetic architecture of the human face

<b>lavaan</b> : An <i>R</i> Package for Structural Equation Modeling

Rosseel, Y. (2012) · Journal of Statistical Software · doi:10.18637/jss.v048.i02 · Cited by 27,955 · see citing works

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 · see citing works

An integrated encyclopedia of DNA elements in the human genome

The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072 · see citing works

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 · see citing works

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 10,838 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

METAL: fast and efficient meta-analysis of genomewide association scans

Willer, C. J., Li, Y., & Abecasis, G. R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq340 · Cited by 5,205 · see citing works

Qgraph: Network visualizations of relationships in psychometric data

Epskamp, S., Cramer, A., Waldorp, L., Schmittmann, V., & Borsboom, D. (2012) · Journal of Statistical Software · doi:10.18637/jss.v048.i04 · Cited by 4,844 · see citing works

GREAT improves functional interpretation of cis-regulatory regions

McLean, C. Y., Bristor, D., Hiller, M., Clarke, S. L., Schaar, B. T., Lowe, C. B., Wenger, A. M., & Bejerano, G. (2010) · Nature Biotechnology · doi:10.1038/nbt.1630 · Cited by 4,502 · see citing works

Histone H3K27ac separates active from poised enhancers and predicts developmental state

Creyghton, M. P., Cheng, A. W., Welstead, G. G., Kooistra, T., Carey, B. W., Steine, E. J., Hanna, J., Lodato, M. A., Frampton, G. M., Sharp, P. A., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1016071107 · Cited by 4,302 · see citing works

Extensions of the procrustes method for the optimal superimposition of landmarks

Rohlf, F. J., & Slice, D. (1990) · Systematic Zoology · doi:10.2307/2992207 · Cited by 4,289 · see citing works

An atlas of genetic correlations across human diseases and traits

ReproGen Consortium, Bulik-Sullivan, B., Psychiatric Genomics Consortium, Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium 3, Finucane, H. K., Anttila, V., Gusev, A., Day, F. R., Loh, P.-R., Duncan, L., et al. (2015) · Nature Genetics · doi:10.1038/ng.3406 · Cited by 4,255 · see citing works

Non-Uniform Random Variate Generation

Devroye, L. (1986) · Springer eBooks · doi:10.1007/978-1-4613-8643-8 · Cited by 4,110 · see citing works

Functional mapping and annotation of genetic associations with FUMA

Watanabe, K., Taskesen, E., van Bochoven, A., & Posthuma, D. (2017) · Nature Communications · doi:10.1038/s41467-017-01261-5 · Cited by 4,083 · see citing works

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

Buniello, A., MacArthur, J. A. L., Cerezo, M., Harris, L. W., Hayhurst, J., Malangone, C., McMahon, A., Morales, J., Mountjoy, E., Sollis, E., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1120 · Cited by 4,000 · see citing works

Robust relationship inference in genome-wide association studies

Manichaikul, A., Mychaleckyj, J. C., Rich, S. S., Daly, K., Sale, M., & Chen, W.-M. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq559 · Cited by 3,541 · see citing works

Factor Retention Decisions in Exploratory Factor Analysis: a Tutorial on Parallel Analysis

Hayton, J. C., Allen, D. G., & Scarpello, V. (2004) · Organizational Research Methods · doi:10.1177/1094428104263675 · Cited by 3,104 · see citing works

Cohort Profile: The ‘Children of the 90s’—the index offspring of the Avon Longitudinal Study of Parents and Children

Boyd, A., Golding, J., Macleod, J., Lawlor, D. A., Fraser, A., Henderson, J., Molloy, L., Ness, A., Ring, S., & Davey Smith, G. (2013) · International Journal of Epidemiology · doi:10.1093/ije/dys064 · Cited by 2,996 · see citing works

A reference panel of 64,976 haplotypes for genotype imputation

the Haplotype Reference Consortium (2016) · Nature Genetics · doi:10.1038/ng.3643 · Cited by 2,836 · see citing works

LocusZoom: regional visualization of genome-wide association scan results

Pruim, R. J., Welch, R. P., Sanna, S., Teslovich, T. M., Chines, P. S., Gliedt, T. P., Boehnke, M., Abecasis, G. R., & Willer, C. J. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq419 · Cited by 2,707 · see citing works

Ensembl 2018

Zerbino, D. R., Achuthan, P., Akanni, W., Amode, M. R., Barrell, D., Bhai, J., Billis, K., Cummins, C., Gall, A., Girón, C. G., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gkx1098 · Cited by 2,605 · see citing works

Cohort Profile: The Avon Longitudinal Study of Parents and Children: ALSPAC mothers cohort

Fraser, A., Macdonald-Wallis, C., Tilling, K., Boyd, A., Golding, J., Davey Smith, G., Henderson, J., Macleod, J., Molloy, L., Ness, A., et al. (2013) · International Journal of Epidemiology · doi:10.1093/ije/dys066 · Cited by 2,494 · see citing works

The UCSC Table Browser data retrieval tool

Karolchik, D. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkh103 · Cited by 2,269 · see citing works

A unique chromatin signature uncovers early developmental enhancers in humans

Rada-Iglesias, A., Bajpai, R., Swigut, T., Brugmann, S. A., Flynn, R. A., & Wysocka, J. (2011) · Nature · doi:10.1038/nature09692 · Cited by 2,233 · see citing works

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

MacArthur, J., Bowler, E., Cerezo, M., Gil, L., Hall, P., Hastings, E., Junkins, H., McMahon, A., Milano, A., Morales, J., et al. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkw1133 · Cited by 2,161 · see citing works

Cleft lip and palate: understanding genetic and environmental influences

Dixon, M. J., Marazita, M. L., Beaty, T. H., & Murray, J. C. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2933 · Cited by 1,987 · see citing works

The Encyclopedia of DNA elements (ENCODE): data portal update

Davis, C. A., Hitz, B. C., Sloan, C. A., Chan, E. T., Davidson, J. M., Gabdank, I., Hilton, J. A., Jain, K., Baymuradov, U. K., Narayanan, A. K., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gkx1081 · Cited by 1,717 · see citing works

Improved whole-chromosome phasing for disease and population genetic studies

Delaneau, O., Zagury, J., & Marchini, J. (2012) · Nature Methods · doi:10.1038/nmeth.2307 · Cited by 1,309 · see citing works

Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development

Satokata, I., & Maas, R. L. (1994) · Nature Genetics · doi:10.1038/ng0494-348 · Cited by 1,274 · see citing works

The American Soldier: Adjustment During Army Life.

Riley, J. W., Stouffer, S. A., Suchman, E. A., Devinney, L. C., Star, S. A., & Williams, R. M. (1949) · American Sociological Review · doi:10.2307/2087216 · Cited by 1,240 · see citing works

Detection and interpretation of shared genetic influences on 42 human traits

Pickrell, J. K., Berisa, T., Liu, J. Z., Ségurel, L., Tung, J. Y., & Hinds, D. A. (2016) · Nature Genetics · doi:10.1038/ng.3570 · Cited by 1,151 · see citing works

A Unifying Tool for Linear Multivariate Statistical Methods: The RV‐Coefficient

Robert, P., & Escoufier, Y. (1976) · Journal of the Royal Statistical Society Series C (Applied Statistics) · doi:10.2307/2347233 · Cited by 1,021 · see citing works

Hedgehog-Regulated Processing of Gli3 Produces an Anterior/Posterior Repressor Gradient in the Developing Vertebrate Limb

Wang, B., Fallon, J. F., & Beachy, P. A. (2000) · Cell · doi:10.1016/s0092-8674(00)80678-9 · Cited by 1,014 · see citing works

Genotype Imputation with Thousands of Genomes

Howie, B., Marchini, J., & Stephens, M. (2011) · G3 Genes|Genomes|Genetics · doi:10.1534/g3.111.001198 · Cited by 966 · see citing works

Efficient multivariate linear mixed model algorithms for genome-wide association studies

Zhou, X., & Stephens, M. (2014) · Nature Methods · doi:10.1038/nmeth.2848 · Cited by 841 · see citing works

Brain cell type–specific enhancer–promoter interactome maps and disease <b>-</b> risk association

Nott, A., Holtman, I. R., Coufal, N. G., Schlachetzki, J. C. M., Yu, M., Hu, R., Han, C. Z., Pena, M., Xiao, J., Wu, Y., et al. (2019) · Science · doi:10.1126/science.aay0793 · Cited by 823 · see citing works

Evaluating Model Fit:a Synthesis of the Structural Equation Modelling Literature

Hooper, D., Coughlan, J. P., & Mullen, M. R. (2008) · Arrow@dit (Dublin Institute of Technology) · doi:10.21427/d79b73 · Cited by 748 · see citing works

A mouse model of Greig cephalo–polysyndactyly syndrome: the extra–toesJ mutation contains an intragenic deletion of the Gli3 gene

Hui, C., & Joyner, A. L. (1993) · Nature Genetics · doi:10.1038/ng0393-241 · Cited by 707 · see citing works

On choosing a test statistic in multivariate analysis of variance

Olson, C. L. (1976) · Psychological Bulletin · doi:10.1037/0033-2909.83.4.579 · Cited by 649 · see citing works

A MODEL FOR DEVELOPMENT AND EVOLUTION OF COMPLEX MORPHOLOGICAL STRUCTURES

Atchley, W. R., & Hall, B. K. (1991) · Biological reviews/Biological reviews of the Cambridge Philosophical Society · doi:10.1111/j.1469-185x.1991.tb01138.x · Cited by 587 · see citing works

Morphometric integration and modularity in configurations of landmarks: tools for evaluating a priori hypotheses

Klingenberg, C. P. (2009) · Evolution & Development · doi:10.1111/j.1525-142x.2009.00347.x · Cited by 511 · see citing works

Approximately independent linkage disequilibrium blocks in human populations

Berisa, T., & Pickrell, J. K. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btv546 · Cited by 491 · see citing works

Mammalian Suppressor-of-Fused modulates nuclear–cytoplasmic shuttling of GLI-1

Kogerman, P., Grimm, T., Kogerman, L., Krause, D., Undén, A. B., Sandstedt, B., Toftgård, R., & Zaphiropoulos, P. G. (1999) · Nature Cell Biology · doi:10.1038/13031 · Cited by 476 · see citing works

The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins

Humke, E. W., Dorn, K. V., Milenkovic, L., Scott, M. P., & Rohatgi, R. (2010) · Genes &amp; Development · doi:10.1101/gad.1902910 · Cited by 444 · see citing works

Parallel Analysis: a method for determining significant principal components

Franklin, S. B., Gibson, D. J., Robertson, P. A., Pohlmann, J. T., & Fralish, J. S. (1995) · Journal of Vegetation Science · doi:10.2307/3236261 · Cited by 442 · see citing works

A mixed-model approach for genome-wide association studies of correlated traits in structured populations

Korte, A., Vilhjálmsson, B. J., Segura, V., Platt, A., Long, Q., & Nordborg, M. (2012) · Nature Genetics · doi:10.1038/ng.2376 · Cited by 440 · see citing works

Genetic architecture: the shape of the genetic contribution to human traits and disease

Timpson, N. J., Greenwood, C. M. T., Soranzo, N., Lawson, D. J., & Richards, J. B. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.101 · Cited by 434 · see citing works

Efficient haplotype matching and storage using the positional Burrows–Wheeler transform (PBWT)

Durbin, R. M. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu014 · Cited by 427 · see citing works

Seeing is believing

Berthiaume, L. G. (2013) · Nature Chemical Biology · doi:10.1038/nchembio.1414 · Cited by 367 · see citing works

Large-scale genomics unveils the genetic architecture of psychiatric disorders

Gratten, J., Wray, N. R., Keller, M. C., & Visscher, P. M. (2014) · Nature Neuroscience · doi:10.1038/nn.3708 · Cited by 363 · see citing works

MultiPhen: Joint Model of Multiple Phenotypes Can Increase Discovery in GWAS

O’Reilly, P. F., Hoggart, C. J., Pomyen, Y., Calboli, F. C. F., Elliott, P., Järvelin, M., & Coin, L. (2012) · PLoS ONE · doi:10.1371/journal.pone.0034861 · Cited by 358 · see citing works

Enhancer Divergence and cis-Regulatory Evolution in the Human and Chimp Neural Crest

Prescott, S. L., Srinivasan, R., Marchetto, M. C., Grishina, I., Narvaiza, I., Selleri, L., Gage, F. H., Swigut, T., & Wysocka, J. (2015) · Cell · doi:10.1016/j.cell.2015.08.036 · Cited by 352 · see citing works

A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans

Liu, F., van der Lijn, F., Schurmann, C., Zhu, G., Chakravarty, M. M., Hysi, P. G., Wollstein, A., Lao, O., de Bruijne, M., Ikram, M. A., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002932 · Cited by 326 · see citing works

Msx homeobox gene family and craniofacial development

ALAPPAT, S., ZHANG, Z. Y., & CHEN, Y. P. (2003) · Cell Research · doi:10.1038/sj.cr.7290185 · Cited by 278 · see citing works

3D digital stereophotogrammetry: a practical guide to facial image acquisition

Heike, C. L., Upson, K., Stuhaug, E., & Weinberg, S. M. (2010) · Head & Face Medicine · doi:10.1186/1746-160x-6-18 · Cited by 273 · see citing works

A gradient of Gli activity mediates graded Sonic Hedgehog signaling in the neural tubePreprint

Stamataki, D., Ulloa, F., Tsoni, S. V., Mynett, A., & Briscoe, J. (2005) · Genes & Development · doi:10.1101/gad.325905 · Cited by 266 · see citing works

VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

Stelzer, G., Plaschkes, I., Oz-Levi, D., Alkelai, A., Olender, T., Zimmerman, S., Twik, M., Belinky, F., Fishilevich, S., Nudel, R., et al. (2016) · BMC Genomics · doi:10.1186/s12864-016-2722-2 · Cited by 264 · see citing works

A multivariate test of association

Ferreira, M. A. R., & Purcell, S. (2008) · Bioinformatics · doi:10.1093/bioinformatics/btn563 · Cited by 247 · see citing works

Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers

Attanasio, C., Nord, A. S., Zhu, Y., Blow, M. J., Li, Z., Liberton, D. K., Morrison, H., Plajzer-Frick, I., Holt, A., Hosseini, R., et al. (2013) · Science · doi:10.1126/science.1241006 · Cited by 237 · see citing works

Genome-wide mapping of global-to-local genetic effects on human facial shape

Claes, P., Roosenboom, J., White, J. D., Swigut, T., Sero, D., Li, J., Lee, M. K., Zaidi, A., Mattern, B. C., Liebowitz, C., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0057-4 · Cited by 235 · cited 1× · see citing works

A Unified Framework for Association Analysis with Multiple Related Phenotypes

Stephens, M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0065245 · Cited by 235 · see citing works

Genome-wide Association Study of Three-Dimensional Facial Morphology Identifies a Variant in PAX3 Associated with Nasion Position

Paternoster, L., Zhurov, A. I., Toma, A. M., Kemp, J. P., Pourcain, B. S., Timpson, N. J., McMahon, G., McArdle, W. L., Ring, S. M., Smith, G. D., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.021 · Cited by 215 · see citing works

Gorlin's Syndromes of the Head and Neck

Hennekam, R. C. M., Krantz, I. D., & Allanson, J. E. (2010) · Data Archiving and Networked Services (DANS) · Cited by 210 · see citing works

Suppressor of Fused opposes Hedgehog signal transduction by impeding nuclear accumulation of the activator form of Cubitus interruptus

Méthot, N., & Basler, K. (2000) · Development · doi:10.1242/dev.127.18.4001 · Cited by 203 · see citing works

A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

Adhikari, K., Fuentes-Guajardo, M., Quinto-Sánchez, M., Mendoza-Revilla, J., Camilo Chacón-Duque, J., Acuña-Alonzo, V., Jaramillo, C., Arias, W., Lozano, R. B., Pérez, G. M., et al. (2016) · Nature Communications · doi:10.1038/ncomms11616 · Cited by 200 · see citing works

A Comparison of Multivariate Genome-Wide Association Methods

Galesloot, T. E., Steen, K. V., Kiemeney, L. A. L. M., Janss, L., & Vermeulen, S. H. H. M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0095923 · Cited by 191 · see citing works

Physical and Functional Interactions between Zic and Gli Proteins

Koyabu, Y., Nakata, K., Mizugishi, K., Aruga, J., & Mikoshiba, K. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.c000773200 · Cited by 184 · see citing works

On Median Tests for Linear Hypotheses

Brown, G. W., & Mood, A. M. (1951) · University of California Press eBooks · doi:10.1525/9780520411586-013 · Cited by 184 · see citing works

SNPsnap: a Web-based tool for identification and annotation of matched SNPs

Pers, T. H., Timshel, P. N., & Hirschhorn, J. N. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu655 · Cited by 176 · see citing works

A novel gene, MEL1, mapped to 1p36.3 is highly homologous to the MDS1/EVI1 gene and is transcriptionally activated in t(1;3)(p36;q21)-positive leukemia cells

Mochizuki, N., Shimizu, S., Nagasawa, T., Tanaka, H., Taniwaki, M., Yokota, J., & Morishita, K. (2000) · Blood · doi:10.1182/blood.v96.9.3209 · Cited by 168 · see citing works

Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology

Shaffer, J. R., Orlova, E., Lee, M. K., Leslie, E. J., Raffensperger, Z. D., Heike, C. L., Cunningham, M. L., Hecht, J. T., Kau, C. H., Nidey, N., et al. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006149 · Cited by 168 · see citing works

Genotype harmonizer: automatic strand alignment and format conversion for genotype data integration

Deelen, P., Bonder, M. J., van der Velde, K., Westra, H.-J., Winder, E., Hendriksen, D., Franke, L., & Swertz, M. A. (2014) · BMC Research Notes · doi:10.1186/1756-0500-7-901 · Cited by 161 · see citing works

MeshMonk: Open-source large-scale intensive 3D phenotyping

White, J. D., Ortega-Castrillón, A., Matthews, H. S., Zaidi, A. A., Ekrami, O., Snyders, J., Fan, Y., Penington, T., Dongen, S. V., Shriver, M. D., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-42533-y · Cited by 161 · see citing works

Suppressor of fused links Fused and Cubitus interruptus on the Hedgehog signalling pathway

Monnier, V., Dussillol-Godar, F., Alves, G., Lamour‐Isnard, C., & Plessis, A. (1998) · Current Biology · doi:10.1016/s0960-9822(98)70227-1 · Cited by 156 · see citing works

Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis

Nakatomi, M., Wang, X., Key, D., Lund, J. J., Turbé-Doan, A., Kist, R., Aw, A., Chen, Y., Maas, R. L., & Peters, H. (2010) · Developmental Biology · doi:10.1016/j.ydbio.2010.01.031 · Cited by 155 · see citing works

PAX transcription factors in neural crest development

Monsoro-Burq, A. H. (2015) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2015.09.015 · Cited by 154 · see citing works

A novel EVI1 gene family, MEL1, lacking a PR domain (MEL1S) is expressed mainly in t(1;3)(p36;q21)-positive AML and blocks G-CSF–induced myeloid differentiation

Nishikata, I., Sasaki, H., Iga, M., Tateno, Y., Imayoshi, S., Asou, N., Nakamura, T., & Morishita, K. (2003) · Blood · doi:10.1182/blood-2002-12-3944 · Cited by 145 · see citing works

Prdm16 is required for normal palatogenesis in mice

Bjork, B. C., Turbé-Doan, A., Prysak, M., Herron, B. J., & Beier, D. R. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp543 · Cited by 141 · see citing works

High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development

Wilderman, A., VanOudenhove, J., Kron, J., Noonan, J. P., & Cotney, J. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.03.129 · Cited by 139 · see citing works

Imputation and quality control steps for combining multiple genome-wide datasets

Verma, S. S., de Andrade, M., Tromp, G., Kuivaniemi, H., Pugh, E., Namjou‐Khales, B., Mukherjee, S., Jarvik, G. P., Kottyan, L. C., Burt, A., et al. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00370 · Cited by 127 · see citing works

Multivariate simulation framework reveals performance of multi-trait GWAS methods

Porter, H. F., & O’Reilly, P. F. (2017) · Scientific Reports · doi:10.1038/srep38837 · Cited by 121 · see citing works

BRD4 localization to lineage-specific enhancers is associated with a distinct transcription factor repertoire

Najafova, Z., Tirado-Magallanes, R., Subramaniam, M., Hossan, T., Schmídt, G., Nagarajan, S., Baumgart, S. J., Mishra, V. K., Bedi, U., Hesse, E., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw826 · Cited by 114 · see citing works

Testing candidate genes for non‐syndromic oral clefts using a case‐parent trio design

Beaty, T. H., Hetmanski, J. B., Zeiger, J. S., Fan, Y., Liang, K.-Y., VanderKolk, C. A., & McIntosh, I. (2001) · Genetic Epidemiology · doi:10.1002/gepi.1039 · Cited by 113 · see citing works

Identification of a Tetrameric Hedgehog Signaling Complex

Stegman, M. A., Vallance, J. E., Elangovan, G., Sosinski, J., Cheng, Y. F., & Robbins, D. J. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.c000043200 · Cited by 110 · see citing works

Spatially‐dense 3D facial asymmetry assessment in both typical and disordered growth

Claes, P. D., Walters, M. J., Vandermeulen, D., & Clement, J. G. (2011) · Journal of Anatomy · doi:10.1111/j.1469-7580.2011.01411.x · Cited by 108 · see citing works

The 3D Facial Norms Database: Part 1. A Web-Based Craniofacial Anthropometric and Image Repository for the Clinical and Research Community

Weinberg, S. M., Raffensperger, Z. D., Kesterke, M. J., Heike, C. L., Cunningham, M. L., Hecht, J. T., Kau, C. H., Murray, J. C., Wehby, G. L., Moreno, L. M., et al. (2015) · The Cleft Palate-Craniofacial Journal · doi:10.1597/15-199 · Cited by 103 · see citing works

Intrinsic and Extrinsic Risk Factors for Sagging Eyelids

Jacobs, L. C., Liu, F., Bleyen, I., Gunn, D. A., Albert Hofman, D., Klaver, C. C. W., Uitterlinden, A. G., Neumann, H. A. M., Bataille, V. A., Spector, T. D., et al. (2014) · JAMA Dermatology · doi:10.1001/jamadermatol.2014.27 · Cited by 102 · see citing works

Sufu recruits GSK3β for efficient processing of Gli3

Kise, Y., Morinaka, A., Teglund, S., & Miki, H. (2009) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2009.07.087 · Cited by 98 · see citing works

Dlx homeobox gene control of mammalian limb and craniofacial development

Kraus, P., & Lufkin, T. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31252 · Cited by 96 · see citing works

Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape

Cole, J. B., Manyama, M. F., Kimwaga, E., Mathayo, J., Larson, J. R., Liberton, D. K., Lukowiak, K., Ferrara, T. M., Riccardi, S. L., Li, M., et al. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006174 · Cited by 95 · see citing works

Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2

Lee, M. K., Shaffer, J. R., Leslie, E. J., Orlova, E., Carlson, J. C., Feingold, E., Marazita, M. L., & Weinberg, S. M. (2017) · PLoS ONE · doi:10.1371/journal.pone.0176566 · Cited by 92 · see citing works

Novel genetic loci affecting facial shape variation in humans

Xiong, Z., Dankova, G., Howe, L. J., Lee, M. K., Hysi, P. G., de Jong, M. A., Zhu, G., Adhikari, K., Li, D., Li, Y., et al. (2019) · eLife · doi:10.7554/elife.49898 · Cited by 92 · see citing works

SKI and MEL1 Cooperate to Inhibit Transforming Growth Factor-β Signal in Gastric Cancer Cells

Takahata, M., Inoue, Y., Tsuda, H., Imoto, I., Koinuma, D., Hayashi, M., Ichikura, T., Yamori, T., Nagasaki, K., Yoshida, M., et al. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m808989200 · Cited by 87 · see citing works

Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations

Endo, C., Johnson, T. A., Morino, R., Nakazono, K., Kamitsuji, S., Akita, M., Kawajiri, M., Yamasaki, T., Kami, A., Hoshi, Y., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-27145-2 · Cited by 86 · see citing works

Identification of five novel genetic loci related to facial morphology by genome-wide association studies

Cha, S., Lim, J. E., Park, A. Y., Do, J., Lee, S. W., Shin, C., Cho, N. H., Kang, J., Nam, J. M., Kim, J.-S., et al. (2018) · BMC Genomics · doi:10.1186/s12864-018-4865-9 · Cited by 84 · see citing works

Facial recognition from DNA using face-to-DNA classifiers

Sero, D., Zaidi, A. A., Li, J., White, J. D., Zarzar, T. G., Marazita, M. L., Weinberg, S. M., Suetens, P., Vandermeulen, D., Wagner, J. K., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10617-y · Cited by 72 · see citing works

Genetics of the human face: Identification of large-effect single gene variants

Crouch, D. J. M., WINNEY, B. J., Koppen, W. P., Christmas, W. J., Hutnik, K., Day, T., Meena, D., Boumertit, A., Hysi, P. G., Nessa, A., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1708207114 · Cited by 71 · see citing works

Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology

Howe, L. J., Lee, M. K., Sharp, G. C., Smith, G. D., Pourcain, B. S., Shaffer, J. R., Ludwig, K. U., Mangold, E., Marazita, M. L., Feingold, E., et al. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007501 · Cited by 69 · see citing works

Retinoic Acid and BMP4 Cooperate with TP63 to alter Chromatin Dynamics during Surface Epithelial Commitment

Pattison, J. M., Melo, S. P., Piekos, S. N., Torkelson, J., Bashkirova, E., Mumbach, M. R., Rajasingh, C., Zhen, H., Li, L.-J., Liaw, E. J., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0263-0 · Cited by 63 · see citing works

Genome-wide variants of Eurasian facial shape differentiation and a prospective model of DNA based face prediction

Qiao, L., Yang, Y., Fu, P., Hu, S., Zhou, H., Peng, S., Tan, J., Lü, Y., Lou, H., Lu, D., et al. (2018) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2018.07.009 · Cited by 53 · see citing works

Delamination of neural crest cells requires transient and reversible Wnt inhibition mediated by DACT1/2

Rabadán, M. A., Herrera, A., Fanlo, L., Usieto, S., Carmona‐Fontaine, C., Barriga, E. H., Mayor, R., Pons, S., & Martı́, E. (2016) · Development · doi:10.1242/dev.134981 · Cited by 49 · see citing works

CHD1 regulates cell fate determination by activation of differentiation-induced genes

Baumgart, S. J., Najafova, Z., Hossan, T., Xie, W., Nagarajan, S., Kari, V., Ditzel, N., Kassem, M. S., & Johnsen, S. A. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx377 · Cited by 45 · see citing works

Systems biology of facial development: contributions of ectoderm and mesenchyme

Hooper, J. E., Feng, W., Li, H., Leach, S. M., Phang, T., Siska, C., Jones, K. L., Spritz, R. A., Hunter, L., & Williams, T. (2017) · Developmental Biology · doi:10.1016/j.ydbio.2017.03.025 · Cited by 41 · see citing works

Craniofacial genetics: Where have we been and where are we going?

Weinberg, S. M., Cornell, R. A., & Leslie, E. J. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007438 · Cited by 40 · see citing works

Whole-exome sequencing identified four loci influencing craniofacial morphology in northern Han Chinese

Wu, W., Zhai, G., Xu, Z., Hou, B., Liu, D.-H., Liu, T., Liu, W., & Ren, F. (2019) · Human Genetics · doi:10.1007/s00439-019-02008-6 · Cited by 38 · see citing works

Hunting for genes that shape human faces: Initial successes and challenges for the future

Weinberg, S. M., Roosenboom, J., Shaffer, J. R., Shriver, M. D., Wysocka, J., & Claes, P. D. (2019) · Orthodontics and Craniofacial Research · doi:10.1111/ocr.12268 · Cited by 27 · see citing works

Illustrated Review of the Embryology and Development of the Facial Region, Part 3: An Overview of the Molecular Interactions Responsible for Facial Development

Som, P. M., Streit, A., & Naidich, T. P. (2013) · American Journal of Neuroradiology · doi:10.3174/ajnr.a3453 · Cited by 26 · see citing works

TGF-β signaling regulates DACT1 expression in intestinal epithelial cells

Wang, J., Zhou, X., Zhang, L., Li, F., Wang, B., Wang, W., & Fu, W. (2017) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2017.11.017 · Cited by 2 · see citing works

Insights into the genetic architecture of the human face

White, J. D., & Indencleef, K. (2019) · Figshare · doi:10.6084/m9.figshare.c.4667261 · Cited by 2 · see citing works

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 157 · see citing works

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 144 · see citing works

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 · see citing works

Shared 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 96 · see citing works

DNA-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 81 · see citing works

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

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. (2023) · Nature Genetics · doi:10.1038/s41588-023-01469-w · Cited by 76 · see citing works

Machine learning applications in forensic DNA profiling: A critical review

Barash, M., McNevin, D. B., Fedorenko, V. A., & Витальевич, Г. П. (2023) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2023.102994 · Cited by 75 · see citing works

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 68 · see citing works

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 64 · see citing works

Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology

Naqvi, 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 52 · see citing works

Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism

Matthews, 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 · see citing works

PRDM paralogs antagonistically balance Wnt/β-catenin activity during craniofacial chondrocyte differentiation

Shull, 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 · see citing works

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 · see citing works

Long divergent haplotypes introgressed from wild sheep are associated with distinct morphological and adaptive characteristics in domestic sheep

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 37 · see citing works

An interdisciplinary forensic approach for human remains identification and missing persons investigations

Dahal, A., McNevin, D. B., Chikhani, M., & Ward, J. (2023) · Wiley Interdisciplinary Reviews Forensic Science · doi:10.1002/wfs2.1484 · Cited by 44 · see citing works

Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape

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 35 · see citing works

Dynamic enhancer landscapes in human craniofacial development

Rajderkar, S. 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 32 · see citing works

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 · see citing works

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 · doi:10.52586/4991 · Cited by 25 · see citing works

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 29 · see citing works

Assessing 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 30 · see citing works

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 28 · see citing works

Beyond facial width-to-height ratios: bizygomatic width is highly sexually dimorphic when adjusting for allometry

Caton, N. R., & Dixson, B. J. W. (2022) · Biology Letters · doi:10.1098/rsbl.2022.0211 · Cited by 28 · see citing works

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 27 · see citing works

TWIST1 interacts with β/δ-catenins during neural tube development and regulates fate transition in cranial neural crest cells

Bertól, 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 26 · see citing works

Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations

Liu, 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 28 · see citing works

METTL3 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 · see citing works

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 24 · see citing works

Predicting Physical Appearance from DNA Data—Towards Genomic Solutions

Pośpiech, E., Teisseyre, P., Mielniczuk, J., & Branicki, W. (2022) · Genes · doi:10.3390/genes13010121 · Cited by 24 · see citing works

Transfer learning reveals sequence determinants of the quantitative response to transcription factor dosage

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 · see citing works

The 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 · see citing works

The 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 · see citing works

hReg-CNCC reconstructs a regulatory network in human cranial neural crest cells and annotates variants in a developmental context

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 · see citing works

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 22 · see citing works

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

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 · see citing works

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 · see citing works

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 17 · see citing works

Evolution and dysfunction of human cognitive and social traits: A transcriptional regulation perspective

Zug, R., & Uller, T. (2022) · Evolutionary Human Sciences · doi:10.1017/ehs.2022.42 · Cited by 16 · see citing works

Craniofacial developmental biology in the single-cell era

Tseng, K.-C., & Crump, J. G. (2023) · Development · doi:10.1242/dev.202077 · Cited by 14 · see citing works

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 13 · see citing works

Forensic skeletal and molecular anthropology face to face: Combining expertise for identification of human remains

Pilli, E., Palamenghi, A., & Cattaneo, C. (2025) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.15398 · Cited by 14 · see citing works

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 · see citing works

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 · see citing works

Relating multivariate shapes to genescapes using phenotype-biological process associations for craniofacial shape

Aponte, J. D., Katz, D. C., Roth, D. M., Vidal‐García, M., Liu, W., Andrade, F., Roseman, C. C., Murray, S. A., Cheverud, J., Graf, D., et al. (2021) · eLife · doi:10.7554/elife.68623 · Cited by 10 · see citing works

Integration of 3D genome topology and local chromatin features uncovers enhancers underlying craniofacial-specific cartilage defects

Chen, Q., Dai, J., & Bian, Q. (2022) · Science Advances · doi:10.1126/sciadv.abo3648 · Cited by 11 · see citing works

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 · see citing works

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. Q., Tanay, A., & Spitz, F. (2022) · Science Advances · doi:10.1126/sciadv.add0695 · Cited by 11 · see citing works

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population

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 10 · see citing works

Low 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 10 · see citing works

Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction

Xiong, 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 · see citing works

Forensic genetics in the omics era

Kayser, M. (2025) · Nature Reviews Genetics · doi:10.1038/s41576-025-00896-1 · Cited by 14 · see citing works

Genetic evidence for facial variation being a composite phenotype of cranial variation and facial soft tissue thickness

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 · see citing works

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

Miller, 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 · see citing works

The level of protein in the maternal murine diet modulates the facial appearance of the offspring via mTORC1 signaling

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 9 · see citing works

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 10 · see citing works

The effects of <i>Tbx15</i> and <i>Pax1</i> 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 · see citing works

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 · see citing works

Parkinson’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 · see citing works

Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci

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 · see citing works

Genetic 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 · see citing works

Genetic analysis of cognitive preservation in the midwestern Amish reveals a novel locus on chromosome 2

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 9 · see citing works

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 · see citing works

Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease riskPreprint

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 10 · see citing works

What’s Shape Got to Do With It? Examining the Relationship Between Facial Shape and Orofacial Clefting

Weinberg, S. M. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.891502 · Cited by 10 · see citing works

An 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 · see citing works

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 · see citing works

Mapping 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 · see citing works

The 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 · see citing works

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 · see citing works

Multi-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 · see citing works

Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS

Goovaerts, 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 8 · see citing works

Gene 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 8 · see citing works

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 · see citing works

Expert 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 7 · see citing works

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective

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 · see citing works

Should individual timeline and serial CT/MRI panels of all patients be presented in acute brain insult cohorts? A pilot study of 45 patients with decompressive craniectomy after aneurysmal subarachnoid hemorrhage

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 · see citing works

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. 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 · see citing works

PhenoScore: 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 · see citing works

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 · see citing works

The facial reconstruction of Dante Alighieri using linear cranial measurements to predict his missing mandible

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 · see citing works

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 · see citing works

3D 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 · see citing works

An investigation of a novel broad autism phenotype: increased facial masculinity among parents of children on the autism spectrum

Tan, 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 5 · see citing works

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 · see citing works

BET 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 · see citing works

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 · see citing works

Positional programs in early murine facial development and their role in human facial shape variability

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 · see citing works

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 · see citing works

DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders

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 · see citing works

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 · see citing works

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 · see citing works

Joint 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 · see citing works

Imaging 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 5 · see citing works

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 · see citing works

Genetic 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 · see citing works

Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants

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 · see citing works

Ethics 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 · see citing works

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 · see citing works

netMUG: a novel network-guided multi-view clustering workflow for dissecting genetic and facial heterogeneity

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 · see citing works

Quantitative 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 · see citing works

Novel genetic loci affecting facial shape variation in humans

Xiong, Z., Dankova, G., Howe, L. J., Lee, M. K., Hysi, P. G., de Jong, M. A., Zhu, G., Adhikari, K., Li, D., Li, Y., et al. (2019) · eLife · doi:10.7554/elife.49898 · Cited by 92 · see citing works

Integrated genome-wide analysis of human facial morphology

Liu, D. (2021) · D-Scholarship@Pitt (University of Pittsburgh)

Genome-wide mapping of global-to-local genetic effects on human facial shape

Claes, P., Roosenboom, J., White, J. D., Swigut, T., Sero, D., Li, J., Lee, M. K., Zaidi, A., Mattern, B. C., Liebowitz, C., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0057-4 · Cited by 235 · see citing works

A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans

Liu, F., van der Lijn, F., Schurmann, C., Zhu, G., Chakravarty, M. M., Hysi, P. G., Wollstein, A., Lao, O., de Bruijne, M., Ikram, M. A., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002932 · Cited by 326 · see citing works

Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations

Liu, 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 28 · see citing works