Importance Clinical whole-exome sequencing is increasingly used for diagnostic evaluation
of patients with suspected genetic disorders. Objective To perform clinical whole-exome …

Background Whole-exome sequencing can provide insight into the relationship between
observed clinical phenotypes and underlying genotypes. Methods We conducted a …

Importance While congenital malformations and genetic diseases are a leading cause of
early infant death, to our knowledge, the contribution of single-gene disorders in this group is …

Background: In Drosophila, each of the three larval instars ends with a molt, triggered by
release of steroid molting hormone ecdysone from the prothoracic gland (PG). Because all …

Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical …

Purpose: Whole-exome sequencing (WES) is increasingly used as a diagnostic tool in
medicine, but prior reports focus on predominantly pediatric cohorts with neurologic or …

Background Idiopathic CD4 lymphocytopenia (ICL) is a clinical syndrome that is defined by
CD4 lymphopenia of less than 300 cells per cubic millimeter in the absence of any primary or …

ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial
membrane protein implicated in mitochondrial dynamics, nucleoid organization, protein …

Purpose To characterize the molecular genetics of autosomal recessive Noonan syndrome.
Methods Families underwent phenotyping for features of Noonan syndrome in children and …

Chromodomain helicase DNA-binding protein 4 (CHD4) is an ATP-dependent chromatin
remodeler involved in epigenetic regulation of gene transcription, DNA repair, and cell cycle …