Associated Papers
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.
Selvanayagam T et al.
Journal of Medical Genetics, 2025
AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.
Gallego-Zazo N et al.
Clinical Genetics, 2025
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A et al.
American Journal of Medical Genetics. Part A, 2023
Select a paper to view details