Background About 80% of the roughly 7,000 known rare diseases are single gene
disorders, about 85% of which are ultra-rare, affecting less than one in one million …

Abstract Purpose Genitopatellar syndrome and Say–Barber–Biesecker–Young–Simpson
syndrome are caused by variants in the KAT6B gene and are part of a broad clinical …

Background The introduction of massive parallel sequencing has contributed to a decline in
sequencing costs. In recent years, whole-exome sequencing (WES) and whole-genome …

Signal transduction through the RAF-MEK-ERK pathway, the first described mitogen-
associated protein kinase (MAPK) cascade, mediates multiple cellular processes and …

Summary Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting
from a terminal autosomal deletion. This condition is molecularly and clinically …

Aberrant activation or inhibition of potassium (K+) currents across the plasma membrane of
cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine …

Although somatic mutations in Histone 3.3 (H3. 3) are well-studied drivers of oncogenesis,
the role of germline mutations remains unreported. We analyze 46 patients bearing de novo …

Upregulated signal flow through RAS and the mitogen-associated protein kinase (MAPK)
cascade is the unifying mechanistic theme of the RASopathies, a family of disorders …

Histones mediate dynamic packaging of nuclear DNA in chromatin, a process that is
precisely controlled to guarantee efficient compaction of the genome and proper …

Background We previously associated HIST1H1E mutations causing Rahman syndrome
with a specific genome-wide methylation pattern. Results Methylome analysis from …