Michael Ronemus

TL;DR: It is estimated that LGD mutation in about 400 genes can contribute to the joint class of affected females and males of lower IQ, with an overlapping and similar number of genes vulnerable to contributory missense mutation.

TL;DR: Exome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveals de novo small indels and point substitutions, which suggest FMRP-associated genes are especially dosage-sensitive targets of cognitive disorders.

TL;DR: The results show that, relative to males, females have greater resistance to autism from genetic causes, which raises the question of the fate of female carriers.

TL;DR: This study uses NETBAG to identify a large biological network of genes affected by rare de novo CNVs in autism, which is strongly related to genes previously implicated in autism and intellectual disability phenotypes.

TL;DR: Clinical genotyping of patients with CHD may help to identify those at greatest risk of neurodevelopmental disabilities, allowing surveillance and early intervention and provide opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients.