Coronavirus disease 2019 (COVID-19) is a mild to moderate respiratory tract infection, however,
a subset of patients progress to severe disease and respiratory failure. The mechanism …

Across a variety of Mendelian disorders, ∼50–75% of patients do not receive a genetic
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. …

Longitudinal analyses of the innate immune system, including the earliest time points, are
essential to understand the immunopathogenesis and clinical course of coronavirus disease (…

Aberrant splicing is a major cause of genetic disorders but its direct detection in transcriptomes
is limited to clinically accessible tissues such as skin or body fluids. While DNA-based …

Temporal resolution of cellular features associated with a severe COVID-19 disease
trajectory is needed for understanding skewed immune responses and defining predictors of …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after …

Aberrant splicing is a major cause of rare diseases. However, its prediction from genome
sequence alone remains in most cases inconclusive. Recently, RNA sequencing has proven to …

RNA sequencing (RNA-seq) has emerged as a powerful approach to discover disease-causing
gene regulatory defects in individuals affected by genetically undiagnosed rare disorders…

RNA sequencing (RNA-seq) is gaining popularity as a complementary assay to genome
sequencing for precisely identifying the molecular causes of rare disorders. A powerful …

We identify SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of
chromatin, subfamily D, member 2), also known as BAF60b (BRG1/Brahma-associated factor …