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View article: Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat Syndrome
Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat Syndrome Open
Purpose Facial dysmorphism is a feature of many monogenic disorders, and is important in diagnostics, variant interpretation and nosology. Nevertheless, comprehensively assessing the complex facial shape changes associated with specific sy…
View article: Toward <scp>3D</scp> facial analysis for recognizing Mendelian causes of autism spectrum disorder
Toward <span>3D</span> facial analysis for recognizing Mendelian causes of autism spectrum disorder Open
Recognizing Mendelian causes is crucial in molecular diagnostics and counseling for patients with autism spectrum disorder (ASD). We explored facial dysmorphism and facial asymmetry in relation to genetic causes in ASD patients and studied…
View article: Shared heritability of face and brain shape distinct from cognitive traits
Shared heritability of face and brain shape distinct from cognitive traits Open
Evidence from both model organisms and clinical genetics suggests close coordination between the developing brain and face 1–8 , but it remains unknown whether this developmental link extends to genetic variation that drives normal-range d…