STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays
a central role in the pathophysiology of allergic inflammation. We have identified 16 patients …

OBJECTIVES: To determine the underlying genetic diagnosis of Pierre Robin sequence (PRS)
in 2 cohorts of individuals, assess the accuracy of genetic evaluation in young infants with …

Transcriptional elongation is critical for gene expression regulation during embryogenesis.
The super elongation complex (SEC) governs this process by mobilizing paused RNA …

Pallister–Killian syndrome is a rare, multi‐system developmental diagnosis typically caused
by tetrasomy of chromosome 12p that exhibits tissue‐limited mosaicism. The spectrum of …

Wiedemann‐Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic
variants in KMT2A and characterized by intellectual disability and hypertrichosis. We …

The Integrator complex is a multi-subunit protein complex that regulates the processing of
nascent RNAs transcribed by RNA polymerase II (RNAPII), including small nuclear RNAs, …

… Kosuke Izumi is a Clinical Geneticist and Pediatrician. He was trained at Rainbow Babies
and Children's Hospital, Cleveland, OH and The Children's Hospital of Philadelphia, …

Cellular homeostasis is maintained by the highly organized cooperation of intracellular
trafficking systems, including COPI, COPII, and clathrin complexes. COPI is a coatomer protein …

We report 21 families displaying neurodevelopmental differences and multiple congenital
anomalies while bearing a series of rare variants in mitogen-activated protein kinase kinase …

Here we describe three subjects with mosaic genome‐wide paternal uniparental isodisomy (GWpUPD)
each of whom presented initially with overgrowth, hemihyperplasia (HH), and …