Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …

Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly
involve the use of next-generation sequencing and comparative genomic hybridization …

Background Many patients remain without a diagnosis despite extensive medical
evaluation. The Undiagnosed Diseases Network (UDN) was established to apply a …

Decreased sequencing costs have led to an explosion of genetic and genomic data. These
data have revealed thousands of candidate human disease variants. Establishing which …

An increasing number of epilepsies are being attributed to variants in genes with epigenetic
functions. The products of these genes include factors that regulate the structure and …

Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the
IRF2BP family of transcriptional regulators. Currently the biological function of this gene is …

Purpose Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes
remain undiagnosed after exome sequencing (ES). With standard ES reanalysis resolving …

Background Integrating rare variation from trio family and case–control studies has
successfully implicated specific genes contributing to risk of neurodevelopmental disorders …

Nucleus accumbens-associated protein 1 (NACC1) is a member of the broad complex,
tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) protein families, mainly exerting its …

Arachnoid cysts (ACs) are the most common space-occupying lesions in the human brain
and present significant challenges for clinical management. While most cases of ACs are …