Protein phosphatases and kinases control multiple cellular events including proliferation,
differentiation, and stress responses through regulating reversible protein phosphorylation …

Diffuse midline glioma (DMG) is an incurable malignancy with the highest mortality rate
among pediatric brain tumors. While radiotherapy and chemotherapy are the most common …

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

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 …

Premature termination codon (PTC)-bearing transcripts are often degraded by nonsense-
mediated decay (NMD) resulting in loss-of-function (LoF) alleles. However, not all PTCs …

The proteasome processes proteins to facilitate immune recognition and host defense.
When inherently defective, it can lead to aberrant immunity resulting in a dysregulated …

People with schizophrenia are enriched for rare coding variants in genes associated with
neurodevelopmental disorders, particularly autism spectrum disorders and intellectual …

Protein-truncating variants (PTVs) near the 3′ end of genes may escape nonsense-
mediated decay (NMD). PTVs in the NMD-escape region (PTVescs) can cause Mendelian …

De novo variants (DNVs) cause many genetic diseases. When DNVs are examined in the
whole coding regions of genes in next-generation sequencing analyses, pathogenic DNVs …

MN1 encodes a transcriptional co-regulator without homology to other proteins, previously
implicated in acute myeloid leukaemia and development of the palate. Large deletions …