MOLECULAR DIAGNOSTICS IN AUTISM SPECTRUM DISORDER: NEXT GENERATION SEQUENCING AND FACIAL PHENOTYPING IN MEDICAL GENETICS KU Leuven
Despite considerable progress in the genetics of autism spectrum disorder (ASD) in the past decade, molecular diagnostics for patients with ASD remains a great challenge due to the complex genetic architecture of ASD. In clinical genetics, an etiological distinction is usually made between ASD patients with Mendelian causes (i.e. driven by a highly penetrant rare variant) and patients with multifactorial causes (i.e. driven by many genetic ...