Central conducting lymphatic anomaly (CCLA) due to congenital maldevelopment of the
lymphatics can result in debilitating and life-threatening disease with limited treatment options. …

OBJECTIVE: To identify the demographic, practice site, and clinical predictors of patient
portal enrollment and activation among a pediatric primary care population. METHODS: We …

Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely
rare, and robust discovery of these requires both large-scale DNA sequencing and data …

Considerable progress has been made in recent years towards the identification and
characterisation of novel subtype-selective modulators of nicotinic acetylcholine receptors (nAChRs…

The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the
transcriptional super elongation complex that regulates expression of genes involved in …

Purpose Somatic variants in tumor necrosis factor receptor–associated factor 7 (TRAF7) cause
meningioma, while germline variants have recently been identified in seven patients with …

Determining pathogenicity of genomic variation identified by next-generation sequencing
techniques can be supported by recurrent disruptive variants in the same gene in …

Exome sequencing is an effective way to identify genetic causes of etiologically heterogeneous
conditions such as developmental delay and intellectual disabilities. Using exome …

Purpose To examine results of magnetic resonance imaging (MRI), polysomnograms (PSG),
and patient outcomes in patients with achondroplasia in light of recent screening …

Methyllycaconitine (MLA), 1, is a naturally occurring norditerpenoid alkaloid that is a highly
potent (IC 50 = 2 nM) selective antagonist of α7 nicotinic acetylcholine receptors (nAChRs). …