Exploring the Underlying Genetics of Craniofacial Morphology through Various Sources of Knowledge

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

(2016) Kaustubh Adhikari et al.   Nature Communications

New Entries in the Lottery of Facial GWAS Discovery

(2016) Peter Claes et al.   PLoS Genetics

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

(2016) John R. Shaffer et al.   PLoS Genetics

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

(2016) Joanne B. Cole et al.   PLoS Genetics

A Shh-Foxf-Fgf18-Shh Molecular Circuit Regulating Palate Development

(2016) Jingyue Xu et al.   PLoS Genetics

Genetic and Environmental Contributions to Facial Morphological Variation: A 3D Population-Based Twin Study

(2016) Jelena Djordjevic et al.   PLoS One

Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

(2015) Elizabeth J. Leslie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Newborn Craniofacial Malformations

(2015) J. Austin Hamm et al.   CLINICS IN PERINATOLOGY

A dynamic Shh expression pattern, regulated by SHH and BMP signaling, coordinates fusion of primordia in the amniote face

(2015) D. Hu et al.   DEVELOPMENT

Predicting facial characteristics from complex polygenic variations

(2015) Jens Fagertun et al.   Forensic Science International-Genetics

New insights into craniofacial malformations

(2015) Stephen R.F. Twigg et al.   HUMAN MOLECULAR GENETICS

Evolution of Darwin’s finches and their beaks revealed by genome sequencing

(2015) Sangeet Lamichhaney et al.   NATURE

Mapping of Craniofacial Traits in Outbred Mice Identifies Major Developmental Genes Involved in Shape Determination

(2015) Luisa F. Pallares et al.   PLoS Genetics

The Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in Xenopus

(2015) John N. Griffin et al.   PLoS Genetics

Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

(2015) J. Roosenboom et al.   Biomed Research International

Phenotyping: Targeting genotype's rich cousin for diagnosis

(2015) Gareth Baynam et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Kabuki syndrome: clinical and molecular diagnosis in the first year of life

(2014) Maria Lisa Dentici et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Toward DNA-based facial composites: Preliminary results and validation

(2014) Peter Claes et al.   Forensic Science International-Genetics

Opposite effects on facial morphology due to gene dosage sensitivity

(2014) Peter Hammond et al.   HUMAN GENETICS

Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis

(2014) Hiroshi Kurosaka et al.   JOURNAL OF CLINICAL INVESTIGATION

Variation and signatures of selection on the human face

(2014) Jing Guo et al.   JOURNAL OF HUMAN EVOLUTION

A Comparison of Multivariate Genome-Wide Association Methods

(2014) Tessel E. Galesloot et al.   PLoS One

Morphological and population genomic evidence that human faces have evolved to signal individual identity

(2014) Michael J. Sheehan et al.   Nature Communications

A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence

(2014) Zena T. Wolf et al.   PLoS Genetics

Establishing a Multidisciplinary Context for Modeling 3D Facial Shape from DNA

(2014) Peter Claes et al.   PLoS Genetics

Let's Face It—Complex Traits Are Just Not That Simple

(2014) Benedikt Hallgrimsson et al.   PLoS Genetics

Modeling 3D Facial Shape from DNA

(2014) Peter Claes et al.   PLoS Genetics

The normal-equivalent: a patient-specific assessment of facial harmony

(2013) P. Claes et al.   INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

(2013) Stephen R F Twigg et al.   NATURE GENETICS

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

(2013) Vikram P Sharma et al.   NATURE GENETICS

Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers

(2013) C. Attanasio et al.   SCIENCE

Detecting Genetic Association of Common Human Facial Morphological Variation Using High Density 3D Image Registration

(2013) Shouneng Peng et al.   PLoS Computational Biology

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

(2012) Lavinia Paternoster et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The face signature of fibrodysplasia ossificans progressiva

(2012) Peter Hammond et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome

(2012) Femke Hannes et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Atypical face shape and genomic structural variants in epilepsy

(2012) Krishna Chinthapalli et al.   BRAIN

The Facial Evolution: Looking Backward and Moving Forward

(2012) Gareth Baynam et al.   HUMAN MUTATION

Sexual dimorphism in multiple aspects of 3D facial symmetry and asymmetry defined by spatially dense geometric morphometrics

(2012) Peter Claes et al.   JOURNAL OF ANATOMY

Pax7 Lineage Contributions to the Mammalian Neural Crest

(2012) Barbara Murdoch et al.   PLoS One

Genotype–phenotype mapping in a post-GWAS world

(2012) Sergey V. Nuzhdin et al.   TRENDS IN GENETICS

Variation of BMP3 Contributes to Dog Breed Skull Diversity

(2012) Jeffrey J. Schoenebeck et al.   PLoS Genetics

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

(2012) Fan Liu et al.   PLoS Genetics

Nonsyndromic Cleft Lip and Palate in Boxer Dogs: Evidence of Monogenic Autosomal Recessive Inheritance

(2011) Enio Moura et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

The FaceBase Consortium: A comprehensive program to facilitate craniofacial research

(2011) Harry Hochheiser et al.   DEVELOPMENTAL BIOLOGY

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

(2011) Peter Hammond et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic determination of human facial morphology: links between cleft-lips and normal variation

(2011) Stefan Boehringer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Improved facial outcome assessment using a 3D anthropometric mask

(2011) P. Claes et al.   INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

Cleft lip and palate: understanding genetic and environmental influences

(2011) Michael J. Dixon et al.   NATURE REVIEWS GENETICS

Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes

(2011) Kristina Aldridge et al.   Molecular Autism

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

(2010) Elif Uz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenomics: the next challenge

(2010) David Houle et al.   NATURE REVIEWS GENETICS

Population-specific deviations of global human craniometric variation from a neutral model

(2009) John H. Relethford   AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY

Heritability of human cranial dimensions: comparing the evolvability of different cranial regions

(2009) Neus Martínez-Abadías et al.   JOURNAL OF ANATOMY

Face shape of unaffected parents with cleft affected offspring: combining three-dimensional surface imaging and geometric morphometrics

(2009) SM Weinberg et al.   Orthodontics & Craniofacial Research

A Comparison of Lipoatrophy and Aging: Volume Deficits in the Face

(2008) S. Coleman et al.   AESTHETIC PLASTIC SURGERY

Progress and challenges in genome-wide association studies in humans

(2008) Peter Donnelly   NATURE