Work over the past 25 years has resulted in the identification of genes responsible for ~50%
of the estimated 7,000 rare monogenic diseases, and it is predicted that most of the …

Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic
abnormalities in which the individual components of the phenotype are observed and …

An accurate diagnosis is an integral component of patient care for children with rare genetic
disease. Recent advances in sequencing, in particular whole‐exome sequencing ( WES ), …

Amyotrophic lateral sclerosis (ALS) is a paralytic and usually fatal disorder caused by motor-neuron
degeneration in the brain and spinal cord. Most cases of ALS are sporadic but about …

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus
(MPPH) syndromes are sporadic overgrowth disorders associated …

X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal
disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and …

Background The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular
diagnosis. Methods We sequenced the genomes of six persons with autosomal dominant LOCA …

There are few better examples of the need for data sharing than in the rare disease community,
where patients, physicians, and researchers must search for “the needle in a haystack” to …

Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with
rare genetic diseases shortens their "diagnostic odyssey," improves disease management, …

The recently described human anion channel Anoctamin (ANO) protein family comprises at
least ten members, many of which have been shown to correspond to calcium-activated …