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 …

One major challenge encountered with interpreting human genetic variants is the limited
understanding of the functional impact of genetic alterations on biological processes. …

Purpose TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported
in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia, …

Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary,
and collaborative in unprecedented ways. Exact disease recognition, an element of …

Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP
family of transcriptional regulators. Currently the biological function of this gene is obscure…

… There are many reasons why ES may miss variants of interest. Firstly, the underlying
genetic etiology may be non-Mendelian and thus not amenable to ES (eg, complex diseases). …

Disruption of the establishment of left-right (LR) asymmetry leads to situs anomalies ranging
from situs inversus totalis (SIT) to situs ambiguus (heterotaxy). The genetic causes of …

… The Q Exactive plus was equipped with a HESI-II probe and operated in full MS scan mode.
MS/MS data were acquired on quality control samples (QCs = equimolar mixture of all the …

SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin
remodeling BAF (BRG1-associated factor) complex and plays a crucial role in …

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, …