Background Pediatric disorders include a range of highly penetrant, genetically heterogeneous
conditions amenable to genomewide diagnostic approaches. Finding a molecular …

Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1% (refs. 1 , 2 ). Despite
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal
vascular system. Autosomal dominant FEVR is genetically heterogeneous, but its principal …

In this paper we discuss ethical implications of the use of mobile phone apps in the control
of the COVID-19 pandemic. Contact tracing is a well-established feature of public health …

Purpose Given the rapid pace of discovery in rare disease genomics, it is likely that improvements
in diagnostic yield can be made by systematically reanalyzing previously generated …

Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias
toward males. Previous studies have identified mutations in more than 100 genes on the X …

De novo germline variants in several components of the SWI/SNF‐like BAF complex can
cause C offin– S iris syndrome ( CSS ), N icolaides– B araitser syndrome ( NCBRS ), and …

MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). In 20 to
45% patients with KS, the genetic basis remains unknown, suggesting possible genetic …

Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation.
Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are …

We estimated the genome-wide contribution of recessive coding variation in 6040 families
from the Deciphering Developmental Disorders study. The proportion of cases attributable to …