Objective: Tourette’s syndrome is polygenic and highly heritable. Genome-wide association
study (GWAS) approaches are useful for interrogating the genetic architecture and …

Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders
to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (…

Aim To describe trends in cerebral palsy (CP) prevalence, severity, and associated
impairments among 139 Icelandic children (65 males, 74 females) born from 1990 to 1996 (period …

Activated protein C resistance caused by an Arg 506 Gln mutation in the factor V gene (factor
V Leiden mutation) is the most common cause of familial thrombosis. This mutation is …

Migraine is a complex neurovascular disease with a range of severity and symptoms, yet
mostly studied as one phenotype in genome-wide association studies (GWAS). Here we …

unusual synkinesis in a 10-yearold boy. On the sixth day of life a neuroblastoma was removed
from the right side of his neck. A rightsided Horner syndrome and paresis of the recurrent …

Objective. To determine the prevalence of orofacial symptoms, dysfunctions, and deformities
of the temporomandibular joint (TMJ) in juvenile idiopathic arthritis (JIA) 17 years after …

Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use
a deficit of observed homozygous carriers of missense variants, versus an expected number …

… Goldberg, MD; Olafur Thorarensen, MD; and Shawn J. Bird, MD … Bergqvist and
Thorarensen), Children’s Hospital of Philadelphia, and the Departments of Radiology (Dr …

Background: NANS-CDG is a recently described congenital disorder of glycosylation caused
by biallelic genetic variants in NANS, encoding an essential enzyme in de novo sialic acid …