Benedikt Hallgrímsson

Heterochronic Uncoupling of Brain and Face Morphogenesis Drives Premature Fusion in Ciliary Transition Zone Mutants

The paper shows that reduced brain growth in ciliary transition zone mutants causes premature facial fusion by mechanically forcing facial prominences into convergence.

Navigating the window: structural bottlenecks in avian craniofacial integration revealed by the ontogenetic patterning of shape variance

The paper analyzes 3D micro-CT images of chicken embryos to show that primary palatal fusion creates a structurally constrained shape window during craniofacial development.

Cephalo-pelvic covariation and sexual dimorphism are disrupted in hybrid mice: implications for the human obstetrical dilemma

This study shows hybrid mice exhibit disrupted cephalo-pelvic covariation and reduced pelvic sexual dimorphism, suggesting these traits are genetically structured and sensitive to hybridization.

COMPREHENSIVE GENETIC INVESTIGATION REVEALS HETEROGENEOUS PATHWAYS TO OBSTRUCTIVE SLEEP APNEA

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

The craniofacial shape of modern humans embodies genomic signatures of evolution, diversity, and clinical conditions

The paper uses 3D craniofacial data and genome-wide association analysis to link craniofacial variation to genetic diversity, evolutionary processes, and clinical conditions in modern humans.

Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat Syndrome

This paper uses 3D facial morphometry to analyze facial shape changes in Cri-du-Chat syndrome and related genetic conditions, identifying genotype-phenotype correlations and critical genomic regions.

Downstream branches of receptor tyrosine kinase signaling act interdependently to shape the face

The paper inhibits three downstream RTK signaling pathways in chicken embryos and finds they cause similar truncation of the frontonasal process, suggesting interdependent roles in morphogenesis.

Mapping genes for human face shape: exploration of univariate phenotyping strategies

This study compares univariate phenotyping strategies for 3D facial shape in GWAS, finding that inter-landmark distances and AE-derived dimensions show higher heritability than facial resemblance to gestalts.

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

The paper identifies genomic loci associated with achondroplasia-like facial variation in the general population using a syndrome-informed phenotyping approach.

Classifying high-dimensional phenotypes with ensemble learning

The paper evaluates ensemble learning for classifying high-dimensional phenotypes across 20 datasets, finding ensemble models improve accuracy by up to 3% over individual learners.

Quantifying the relationship between cell proliferation and morphology during development of the face

The paper develops an imaging pipeline to quantify 3D cellular proliferation and morphology during mouse facial development, showing their tight correlation.

Precise modulation of transcription factor levels reveals drivers of dosage sensitivity

The paper modulates SOX9 levels in human facial progenitors to study dosage sensitivity and identifies regulatory elements and genes that are sensitive to SOX9 changes.

Fgf8 dosage regulates jaw shape and symmetry through pharyngeal-cardiac tissue relationships

This study shows that reduced Fgf8 dosage causes asymmetric jaw development in mice, with left-side defects more severe than right-side, and links these asymmetries to heart development.

MusMorph, a database of standardized mouse morphology data for morphometric meta-analyses

MusMorph provides standardized mouse morphology data for meta-analyses, including craniofacial and brain structures across developmental stages and genotypes.

Shapes and Genescapes: Mapping Multivariate Phenotype-Biological Process Associations for Craniofacial Shape

The paper develops a process-centered multivariate genotype-phenotype approach to analyze craniofacial shape variation in mice, linking gene sets to shape axes and predicting phenotypic effects beyond shape.

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

The paper identifies structural variants in HDAC9 that disrupt TWIST1 regulatory elements, causing craniofacial and limb malformations through altered transcriptional regulation.

Genome-wide Copy Number Variations in a Large Cohort of Bantu African Children

This study identifies over 400,000 CNVs in 3400 Bantu African children, highlighting common CNVs overlapping disease-associated genes and providing a large dataset for African ancestry CNV research.

Application of high-resolution landmark-free morphometrics to a mouse model of Down Syndrome reveals a tightly localised cranial phenotype

This paper applies a landmark-free morphometric method to a mouse model of Down syndrome, revealing localized cranial phenotypes not detectable with traditional landmark-based approaches.

Segmentation of Tissues and Proliferating Cells in Light-Sheet Microscopy Images using Convolutional Neural Networks

This paper develops CNNs to segment tissues and proliferating cells in light-sheet microscopy images, achieving results comparable to manual segmentation.

Facial shape and allometry quantitative trait locus intervals in the Diversity Outbred mouse are enriched for known skeletal and facial development genes

This study identifies 37 QTL for facial shape in DO mice, finding enrichment for genes involved in skeletal and facial development, despite small individual effects.