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 …

Background De novo mutations in PURA have recently been described to cause PURA
syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), …

Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous
neural crest–derived neoplasms. Recently we identified germline mutations in a new …

Bipotential T/natural killer (NK) progenitor cells are present in the human thymus. Despite
their bipotential capacity, these progenitors develop predominantly to T cells in the thymus. …

Interstitial deletions of 7q11.23 cause Williams–Beuren syndrome, one of the best
characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal …

Here, we define the IL-7R-activated signal that promotes survival and proliferation of T cell
progenitors and demonstrate that it is distinct from the signals that induce differentiation. We …

Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase
1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD), …

Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and
multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS is …

HPV‐related HNSCC generally have a better prognosis than HPV‐negative HNSCC.
However, a subgroup of HPV‐positive tumors with poor prognosis has been recognized, …

Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS)
has been reported previously to be a rare, autosomal-recessive developmental disorder …