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 …

Purpose Mendelian disease genomic research has undergone a massive transformation
over the past decade. With increasing availability of exome and genome sequencing, the …

Background Whole-exome sequencing can provide insight into the relationship between
observed clinical phenotypes and underlying genotypes. Methods We conducted a …

Purpose: Whole-exome sequencing (WES) is increasingly used as a diagnostic tool in
medicine, but prior reports focus on predominantly pediatric cohorts with neurologic or …

Reanalysis of Clinical Exome Data and Diagnostic Yield As knowledge about genetic
causes of disease improves, periodic reanalysis of clinical exome sequence could yield new …

Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …

One major challenge encountered with interpreting human genetic variants is the limited
understanding of the functional impact of genetic alterations on biological processes …

Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-
disciplinary, and collaborative in unprecedented ways. Exact disease recognition, an …

ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded
mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid …