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

[1]  Christopher R. Gignoux,et al.  Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals , 2023, Nature Genetics.

[2]  Kathryn S. Burch,et al.  Impact of cross-ancestry genetic architecture on GWAS in admixed populations , 2023, bioRxiv.

[3]  J. Akey,et al.  The contribution of Neanderthal introgression to modern human traits , 2022, Current Biology.

[4]  Sarthok Rasique Rahman,et al.  fastman: A fast algorithm for visualizing GWAS results using Manhattan and Q-Q plots , 2022, bioRxiv.

[5]  A. Ruiz-Linares,et al.  Genetic variants underlying differences in facial morphology in East Asian and European populations , 2022, Nature Genetics.

[6]  O. Bloom,et al.  Activating Transcription Factor 3 (ATF3) is a Highly Conserved Pro-regenerative Transcription Factor in the Vertebrate Nervous System , 2022, Frontiers in Cell and Developmental Biology.

[7]  Stephanie A. Santorico,et al.  Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans , 2021, HGG advances.

[8]  Kathryn S. Burch,et al.  On powerful GWAS in admixed populations , 2021, Nature Genetics.

[9]  A. Ruiz-Linares,et al.  A genome-wide scan on individual typology angle found variants at SLC24A2 associated with skin color variation in Chinese populations. , 2021, The Journal of investigative dermatology.

[10]  T. Spector,et al.  A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation , 2021, Science Advances.

[11]  T. Beaty,et al.  The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip , 2021, HGG advances.

[12]  Elizabeth G. Atkinson,et al.  Tractor uses local ancestry to enable inclusion of admixed individuals into GWAS and boost power , 2020, Nature Genetics.

[13]  Julie D. White,et al.  Insights into the genetic architecture of the human face , 2020, Nature Genetics.

[14]  D. Dickel,et al.  Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder , 2020, Cell stem cell.

[15]  Benedikt Hallgrímsson,et al.  Fully Automatic Landmarking of Syndromic 3D Facial Surface Scans Using 2D Images , 2020, Sensors.

[16]  Abdullah,et al.  Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome. , 2019, Genetic testing and molecular biomarkers.

[17]  Tamar Sofer,et al.  Genetic association testing using the GENESIS R/Bioconductor package , 2019, Bioinform..

[18]  A. Uitterlinden,et al.  Novel genetic loci affecting facial shape variation in humans , 2019, bioRxiv.

[19]  Zhongming Zhao,et al.  MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip , 2019, BMC Medical Genomics.

[20]  M. Shriver,et al.  Hunting for genes that shape human faces: Initial successes and challenges for the future. , 2019, Orthodontics & craniofacial research.

[21]  Jing Liu,et al.  EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population , 2019, Human Genetics.

[22]  F. Liu,et al.  RETRACTED ARTICLE: EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population , 2019, Human Genetics.

[23]  Fu Ren,et al.  Whole-exome sequencing identified four loci influencing craniofacial morphology in northern Han Chinese , 2019, Human Genetics.

[24]  Fu Ren,et al.  Whole-exome sequencing identified four loci influencing craniofacial morphology in northern Han Chinese , 2019, Human Genetics.

[25]  Alireza Hadj Khodabakhshi,et al.  Metascape provides a biologist-oriented resource for the analysis of systems-level datasets , 2019, Nature Communications.

[26]  D. Balding,et al.  A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia , 2019, Nature Communications.

[27]  Stephen Richmond,et al.  Facial Genetics: A Brief Overview , 2018, Front. Genet..

[28]  Shuhua Xu,et al.  Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans , 2018, PLoS genetics.

[29]  B. Oh,et al.  Identification of five novel genetic loci related to facial morphology by genome-wide association studies , 2018, BMC Genomics.

[30]  N. Kamatani,et al.  Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations , 2018, Scientific Reports.

[31]  J. Noonan,et al.  High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development , 2018, Cell reports.

[32]  Paul Suetens,et al.  Genome-wide mapping of global-to-local genetic effects on human facial shape , 2018, Nature Genetics.

[33]  D. Balding,et al.  Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance , 2018, Nature Communications.

[34]  T. Spector,et al.  Ensemble landmarking of 3D facial surface scans , 2018, Scientific Reports.

[35]  D. Posthuma,et al.  Functional mapping and annotation of genetic associations with FUMA , 2017, Nature Communications.

[36]  Kathryn S. Burch,et al.  Leveraging polygenic functional enrichment to improve GWAS power , 2017, bioRxiv.

[37]  Kay Prüfer,et al.  Using the Neandertal genome to study the evolution of small insertions and deletions in modern humans , 2017, BMC Evolutionary Biology.

[38]  S. Weinberg,et al.  Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2 , 2017, PloS one.

[39]  Peter Claes,et al.  Investigating the case of human nose shape and climate adaptation , 2017, PLoS genetics.

[40]  G. Bedoya,et al.  Socioeconomic Status Is Not Related with Facial Fluctuating Asymmetry: Evidence from Latin-American Populations , 2017, PloS one.

[41]  M. Wilkins,et al.  Transcription factor ZNF25 is associated with osteoblast differentiation of human skeletal stem cells , 2016, BMC Genomics.

[42]  Doug Speed,et al.  Re-evaluation of SNP heritability in complex human traits , 2016, Nature Genetics.

[43]  Stephanie A. Santorico,et al.  Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape , 2016, PLoS genetics.

[44]  Chung How Kau,et al.  Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology , 2016, PLoS genetics.

[45]  Shuhua Xu,et al.  Genome-wide Variants of Eurasian Facial Shape Differentiation and a prospective model of DNA based Face Prediction , 2016, bioRxiv.

[46]  B. Fang,et al.  ADAM10 is essential for cranial neural crest-derived maxillofacial bone development. , 2016, Biochemical and biophysical research communications.

[47]  Steve D. M. Brown,et al.  Genome-wide association of multiple complex traits in outbred mice by ultra low-coverage sequencing , 2016, Nature Genetics.

[48]  Rolando González-José,et al.  A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation , 2016, Nature Communications.

[49]  D. Reich,et al.  The Combined Landscape of Denisovan and Neanderthal Ancestry in Present-Day Humans , 2016, Current Biology.

[50]  Stefanos Zafeiriou,et al.  300 Faces In-The-Wild Challenge: database and results , 2016, Image Vis. Comput..

[51]  D. Balding,et al.  A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features , 2016, Nature Communications.

[52]  Liran Carmel,et al.  Archaic Adaptive Introgression in TBX15/WARS2 , 2015, bioRxiv.

[53]  Luisa F. Pallares,et al.  Mapping of Craniofacial Traits in Outbred Mice Identifies Major Developmental Genes Involved in Shape Determination , 2015, PLoS genetics.

[54]  C. Stringer,et al.  Unconstrained cranial evolution in Neandertals and modern humans compared to common chimpanzees , 2015, Proceedings of the Royal Society B: Biological Sciences.

[55]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

[56]  F. Gage,et al.  Enhancer Divergence and cis-Regulatory Evolution in the Human and Chimp Neural Crest , 2015, Cell.

[57]  Avi Ma’ayan,et al.  An Integrated Transcriptome Atlas of Embryonic Hair Follicle Progenitors, Their Niche, and the Developing Skin. , 2015, Developmental cell.

[58]  David Balding,et al.  A genome-wide association study identifies multiple loci for variation in human ear morphology , 2015, Nature Communications.

[59]  Joseph K. Pickrell,et al.  Detection and interpretation of shared genetic influences on 42 human traits , 2015, Nature Genetics.

[60]  Timothy A Thornton,et al.  Robust Inference of Population Structure for Ancestry Prediction and Correction of Stratification in the Presence of Relatedness , 2015, Genetic epidemiology.

[61]  R. Adelstein,et al.  Convergence and Extrusion Are Required for Normal Fusion of the Mammalian Secondary Palate , 2015, PLoS biology.

[62]  T. Schilling,et al.  Fat-Dachsous Signaling Coordinates Cartilage Differentiation and Polarity during Craniofacial Development , 2014, PLoS genetics.

[63]  D. Balding,et al.  Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals , 2014, PLoS genetics.

[64]  A. Hofman,et al.  Intrinsic and extrinsic risk factors for sagging eyelids. , 2014, JAMA dermatology.

[65]  Ross M. Fraser,et al.  A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness , 2014, PLoS genetics.

[66]  Mary L Marazita,et al.  Heritability of Face Shape in Twins: A Preliminary Study using 3D Stereophotogrammetry and Geometric Morphometrics. , 2013, Dentistry 3000.

[67]  Gabriel E. Hoffman,et al.  Correcting for Population Structure and Kinship Using the Linear Mixed Model: Theory and Extensions , 2013, PloS one.

[68]  C. Bustamante,et al.  RFMix: a discriminative modeling approach for rapid and robust local-ancestry inference. , 2013, American journal of human genetics.

[69]  Nicholas A. Johnson,et al.  Genetic Architecture of Skin and Eye Color in an African-European Admixed Population , 2013, PLoS genetics.

[70]  Marleen de Bruijne,et al.  A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans , 2012, PLoS genetics.

[71]  J. Marchini,et al.  Fast and accurate genotype imputation in genome-wide association studies through pre-phasing , 2012, Nature Genetics.

[72]  ENCODEConsortium,et al.  An Integrated Encyclopedia of DNA Elements in the Human Genome , 2012, Nature.

[73]  Nicholas J Timpson,et al.  Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position. , 2012, American journal of human genetics.

[74]  D De Angelis,et al.  Metric and morphological assessment of facial features: a study on three European populations. , 2011, Forensic science international.

[75]  C. Klingenberg.  MorphoJ: an integrated software package for geometric morphometrics , 2011, Molecular ecology resources.

[76]  Pasquale Poppa,et al.  A new atlas for the evaluation of facial features: advantages, limits, and applicability , 2011, International Journal of Legal Medicine.

[77]  P. Visscher,et al.  GCTA: a tool for genome-wide complex trait analysis. , 2011, American journal of human genetics.

[78]  Josyf Mychaleckyj,et al.  Robust relationship inference in genome-wide association studies , 2010, Bioinform..

[79]  Thomas Meitinger,et al.  Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution , 2010, Nature Genetics.

[80]  Davis E. King,et al.  Dlib-ml: A Machine Learning Toolkit , 2009, J. Mach. Learn. Res..

[81]  David H. Alexander,et al.  Fast model-based estimation of ancestry in unrelated individuals. , 2009, Genome research.

[82]  E. Zwarthoff,et al.  Meningioma 1 Is Required for Appropriate Osteoblast Proliferation, Motility, Differentiation, and Function* , 2009, The Journal of Biological Chemistry.

[83]  P. Marie,et al.  Transcription factors controlling osteoblastogenesis. , 2008, Archives of biochemistry and biophysics.

[84]  C. Stringer,et al.  Were neandertal and modern human cranial differences produced by natural selection or genetic drift? , 2007, Journal of human evolution.

[85]  J. Dausset,et al.  Potential targets of FOXL2, a transcription factor involved in craniofacial and follicular development, identified by transcriptomics , 2007, Proceedings of the National Academy of Sciences.

[86]  J. Li,et al.  Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix , 2005, Heredity.

[87]  P. Riegman,et al.  Targeted Disruption of the Mn1 Oncogene Results in Severe Defects in Development of Membranous Bones of the Cranial Skeleton , 2005, Molecular and Cellular Biology.

[88]  A. Meyer,et al.  SHAPE ANALYSIS OF SYMMETRIC STRUCTURES: QUANTIFYING VARIATION AMONG INDIVIDUALS AND ASYMMETRY , 2002, Evolution; international journal of organic evolution.

[89]  Makoto Sato,et al.  Targeted Disruption of Cbfa1 Results in a Complete Lack of Bone Formation owing to Maturational Arrest of Osteoblasts , 1997, Cell.

[90]  C. Tabin,et al.  Sonic hedgehog differentially regulates expression of GLI and GLI3 during limb development. , 1996, Developmental biology.

[91]  W. Howells,et al.  Cranial Variation in Man: A Study by Multivariate Analysis of Patterns of Difference Among Recent Human Populations , 1975 .

[92]  J. Weiner.  Nose shape and climate. , 1954, American Journal of Physical Anthropology.

[93]  寛 大岩.  早期関節リウマチ：brief overview , 2018 .

[94]  T. Komori.  Roles of Runx2 in Skeletal Development. , 2017, Advances in Experimental Medicine and Biology.

[95]  S. K. Zaidi,et al.  Regulatory controls for osteoblast growth and differentiation: role of Runx/Cbfa/AML factors. , 2004, Critical reviews in eukaryotic gene expression.

[96]  Arthur Davies.  4. Man's Nasal Index in Relation to Climate , 1929 .