This study aimed to elucidate the observed variable phenotypic expressivity associated with
NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with …

We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223
individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (…

10.7554/eLife.00523.001 DNA methylation is an essential epigenetic mark whose role in
gene regulation and its dependency on genomic sequence and environment are not fully …

Basal cell carcinoma (BCC) of the skin is the most common malignant neoplasm in humans.
BCC is primarily driven by the Sonic Hedgehog (Hh) pathway. However, its phenotypic …

… Myc-tagged Cdc42, Cdc42N17 and Cdc42L61 were generous gifts of M. Olson. Cdc42L61A37
was as … Miki, and M. Olson for important reagents used in this study. We also thank J. …

Epilepsy is one of the most common neurological disorders in humans with a prevalence of
1% and a lifetime incidence of 3%. Several genes have been identified in rare autosomal …

We performed exome sequencing to detect somatic mutations in protein-coding regions in
seven melanoma cell lines and donor-matched germline cells. All melanoma samples had …

Objective: Compulsive hoarding is a serious health problem for the sufferers, their families,
and the community at large. It appears to be highly prevalent and to run in families. However, …

Trisomy 21 is the most frequent genetic cause of cognitive impairment. To assess the
perturbations of gene expression in trisomy 21, and to eliminate the noise of genomic variability, …

Approximately 50% of childhood deafness is caused by mutations in specific genes. Autosomal
recessive loci account for approximately 80% of nonsyndromic genetic deafness 1. Here …