Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Macroautophagy/autophagy is an evolutionarily highly conserved catabolic process that is
important for the clearance of cytosolic contents to maintain cellular homeostasis and …

Parkinson's disease is a progressive neurological disorder, characterized by prominent
movement dysfunction. The past two decades have seen a rapid expansion of our …

Our understanding of the genetics of the human cerebral cortex is limited both in terms of the
diversity and the anatomical granularity of brain structural phenotypes. Here we conducted a …

We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …

BACKGROUND Transcriptome sequencing (RNA-seq) improves diagnostic rates in
individuals with suspected Mendelian conditions to varying degrees, primarily by directing …

Macroautophagy (hereafter referred to as autophagy) is a finely tuned process of
programmed degradation and recycling of proteins and cellular components, which is …

Members of the NSL histone acetyltransferase complex are involved in multiorgan
developmental syndromes. While the NSL complex is known for its importance in early …

Reversible acetylation of mitochondrial proteins is a regulatory mechanism central to
adaptive metabolic responses. Yet, how such functionally relevant protein acetylation is …

Reading disabilities (RD) are the most common neurocognitive disorder, affecting 5% to
17% of children in North America. These children often have comorbid neurodevelopmental …