Next-generation sequencing technologies have been and continue to be deployed in clinical
laboratories, enabling rapid transformations in genomic medicine. These technologies …

Rett syndrome is caused by mutations in the gene MECP2 in ∼80% of affected individuals.
We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the …

<p id="p001">Monozygotic 24-year-old twins presented with discordant ovarian function.
One had had premature ovarian failure at the age of 14 years, whereas her sister had normal …

Mediator occupies a central role in RNA polymerase II transcription as a sensor, integrator,
and processor of regulatory signals that converge on protein-coding gene promoters. …

Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized
by mental retardation, relative macrocephaly, hypotonia and constipation. We report here …

Genetic syndromes frequently present with overlapping clinical features and inconclusive or
ambiguous genetic findings which can confound accurate diagnosis and clinical …

Purpose We describe the clinical implementation of genome-wide DNA methylation analysis
in rare disorders across the EpiSign diagnostic laboratory network and the assessment of …

A novel missense mutation in the mediator of RNA polymerase II transcription subunit 12 (MED12)
gene has been found in the original family with Lujan syndrome and in a second …

OBJECTIVE. Our goal was to describe the neurologic and clinical features of affected males
from families with X-linked patterns of severe mental retardation, hypotonia, recurrent …

Manifesting carriers of DMD gene mutations may present diagnostic challenges, particularly
in the absence of a family history of dystrophinopathy. We review the clinical and genetic …