A fundamental problem in rare-disease diagnostics is the lack of consensus as to which
genes have sufficient evidence to attribute causation. To address this issue, we have created …

We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia
(FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data …

Generalized lymphatic anomaly (GLA) is a vascular disorder characterized by diffuse or
multifocal lymphatic malformations (LMs). The etiology of GLA is poorly understood. We …

Background Repeat expansion disorders affect about 1 in 3000 individuals and are clinically
heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic …

Objective To determine whether whole genome sequencing can be used to define the molecular
basis of suspected mitochondrial disease. Design Cohort study. Setting National Health …

Purpose CLAPO syndrome is a rare vascular disorder characterized by capillary malformation
of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, …

Smith‐Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA
457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is …

… given the sparsity of data and heavily imbalanced case-control composition we permuted
case and control labels ten times and then re-ran the Fisher’s Exact test for each of the ~500 K …

Purpose Germline mutations in DNA damage repair (DDR) genes are identified in a significant
proportion of patients with metastatic prostate cancer, but the clinical implications of these …

Background Expansions of short tandem repeats are the cause of many neurogenetic disorders
including familial amyotrophic lateral sclerosis, Huntington disease, and many others. …