An accurate diagnosis is an integral component of patient care for children with rare genetic
disease. Recent advances in sequencing, in particular whole‐exome sequencing ( WES ), …

Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …

Glioblastoma multiforme (GBM) is a lethal brain tumour in adults and children. However,
DNA copy number and gene expression signatures indicate differences between adult and …

Glioblastoma (GBM) is a brain tumor that carries a dismal prognosis and displays considerable
heterogeneity. We have recently identified recurrent H3F3A mutations affecting two …

Pediatric midline high-grade astrocytomas (mHGAs) are incurable with few treatment targets
identified. Most tumors harbor mutations encoding p.Lys27Met in histone H3 variants. In 40 …

Pilocytic astrocytoma, the most common childhood brain tumor 1 , is typically associated with
mitogen-activated protein kinase (MAPK) pathway alterations 2 . Surgically inaccessible …

Pediatric glioblastomas (GBM) including diffuse intrinsic pontine gliomas (DIPG) are
devastating brain tumors with no effective therapy. Here, we investigated clinical and biological …

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus
(MPPH) syndromes are sporadic overgrowth disorders associated …

The Open Targets Platform ( https://platform.opentargets.org/ ) is an open source resource to
systematically assist drug target identification and prioritisation using publicly available data…

Genome-wide association studies have discovered numerous genomic loci associated with
Alzheimer’s disease (AD); yet the causal genes and variants are incompletely identified. We …