Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these
conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal …

Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of individuals
with genetic diseases 1 , but the systematic identification of such individuals remains a …

Autism spectrum disorder (ASD) affects up to 1 in 59 individuals 1 . Genome-wide association
and large-scale sequencing studies strongly implicate both common variants 2 , 3 – 4 and …

Purpose We describe a novel neurobehavioral phenotype of autism spectrum disorder (ASD),
intellectual disability, and/or attention-deficit/hyperactivity disorder (ADHD) associated …

Purpose Postzygotic (somatic) variants in the mTOR pathway genes cause a spectrum of
distinct developmental abnormalities. Accurate classification of somatic variants in this group of …

Shwachman-Diamond syndrome (SDS) is an autosomal recessive inherited bone marrow
failure syndrome and leukemia predisposition disorder due to biallelic mutations of SBDS, …

Objective: To assist the interpretation of genomic data for common epilepsies, we asked
whether variants implicated in mild epilepsies in autosomal dominant families are present in the …

To establish efficient neural networks, neurons selectively strengthen active synapses and
eliminate inactive ones through a neuronal activity-dependent developmental process known …

To establish efficient neural networks, neurons selectively strengthen active synapses and
eliminate inactive ones through a neuronal activity-dependent developmental process known …