… , matrix associated, actin dependent regulator of chromatin, subfamily c, member 2; ST3GAL6,
ST3 β-… Gilissen, C. et al. Genome sequencing identifies major causes of severe intellectual …

To identify candidate genes for intellectual disability, we performed a meta-analysis on
2,637 de novo mutations, identified from the exomes of 2,104 patient–parent trios. Statistical …

… Gilissen et al 32 used this strategy to reduce the number of candidate disease genes in two
individuals with Sensenbrenner syndrome from 139 and 158 to only 3 and 4, respectively. …

Importance Severe coronavirus disease 2019 (COVID-19) can occur in younger, predominantly
male, patients without preexisting medical conditions. Some individuals may have …

De novo mutations in protein-coding genes are a well-established cause of developmental
disorders 1 . However, genes known to be associated with developmental disorders account …

Background Chronic mucocutaneous candidiasis (CMC) is characterized by susceptibility to
candida infection of skin, nails, and mucous membranes. Patients with recessive CMC and …

… Schematic overview of the SETBP1 protein (c). Known and predicted protein domains
are shown in relation to the mutation cluster observed in 12 individuals with Schinzel-Giedion …

… haplogroups C and F, we identified a number of novel features. We report that C now
bifurcates into C3 (Supplemental Fig. S20) and another clade containing all the other C lineages …

The genetic cause underlying the development of multiple colonic adenomas, the premalignant
precursors of colorectal cancer (CRC), frequently remains unresolved in patients with …

… Extensive mutagenesis studies with cDNA expression vectors of human PEDF revealed
that any deletion of the C terminus, which encompasses more than the four C-terminal amino …