Many pathogenic structural variants of the human genome are known to cause facial dysmorphism. During the past decade, pathogenic structural variants have also been found to be an important class of genetic risk factor for epilepsy. In other fields, face shape has been assessed objectively using 3D stereophotogrammetry and dense surface models. We hypothesized that computer-based analysis of 3D face images would detect subtle facial abnormality in people with epilepsy who carry pathogenic structural variants as determined by chromosome microarray. In 118 children and adults attending three European epilepsy clinics, we used an objective measure called Face Shape Difference to show that those with pathogenic structural variants have a signif...
PurposeDeep phenotyping is an emerging trend in precision medicine for genetic disease. The shape of...
Purpose: The interpretation of genetic variants after genome-wide analysis is complex in heterogeneo...
A group of patients who had cancer as a child were previously found to have distinct patterns of mor...
Many pathogenic structural variants of the human genome are known to cause facial dysmorphism. Durin...
The epilepsies are now conceptualized as network disruptions: focal epilepsies are considered to hav...
Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and i...
Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and i...
Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experien...
Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experien...
The human face represents a combined set of highly heritable phenotypes, but knowledge on its geneti...
An estimated 400,000 children are born every year with rare genetic disorders that significantly aff...
Craniofacial characteristics are highly informative for clinical geneticists when diagnosing genetic...
Alterations in craniofacial size and shape are apparent in many monogenic diseases and syndromes, bu...
Over early fetal life the anterior brain, neuroepithelium, neural crest and facial ectoderm constitu...
Genome-wide association scans of complex multipartite traits like the human face typically use prese...
PurposeDeep phenotyping is an emerging trend in precision medicine for genetic disease. The shape of...
Purpose: The interpretation of genetic variants after genome-wide analysis is complex in heterogeneo...
A group of patients who had cancer as a child were previously found to have distinct patterns of mor...
Many pathogenic structural variants of the human genome are known to cause facial dysmorphism. Durin...
The epilepsies are now conceptualized as network disruptions: focal epilepsies are considered to hav...
Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and i...
Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and i...
Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experien...
Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experien...
The human face represents a combined set of highly heritable phenotypes, but knowledge on its geneti...
An estimated 400,000 children are born every year with rare genetic disorders that significantly aff...
Craniofacial characteristics are highly informative for clinical geneticists when diagnosing genetic...
Alterations in craniofacial size and shape are apparent in many monogenic diseases and syndromes, bu...
Over early fetal life the anterior brain, neuroepithelium, neural crest and facial ectoderm constitu...
Genome-wide association scans of complex multipartite traits like the human face typically use prese...
PurposeDeep phenotyping is an emerging trend in precision medicine for genetic disease. The shape of...
Purpose: The interpretation of genetic variants after genome-wide analysis is complex in heterogeneo...
A group of patients who had cancer as a child were previously found to have distinct patterns of mor...