Genetic and metabolic studies have been done on a large kindred in which several males
are affected by a syndrome of borderline mental retardation and abnormal behavior. The …

Background The causes of intellectual disability remain largely unknown because of
extensive clinical and genetic heterogeneity. Methods We evaluated patients with intellectual …

Importance Severe coronavirus disease 2019 (COVID-19) can occur in younger, predominantly
male, patients without preexisting medical conditions. Some individuals may have …

New mutations have long been known to cause genetic disease, but their true contribution
to the disease burden can only now be determined using family-based whole-genome or …

In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that
LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass …

Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely
genetic in origin 1 , 2 . The extensive genetic heterogeneity of this disorder requires a genome-…

Noonan syndrome (MIM 163950) is an autosomal dominant disorder characterized by
dysmorphic facial features, proportionate short stature and heart disease (most commonly …

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in
a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on …

The per-generation mutation rate in humans is high. De novo mutations may compensate
for allele loss due to severely reduced fecundity in common neurodevelopmental and …

De novo mutations in protein-coding genes are a well-established cause of developmental
disorders 1 . However, genes known to be associated with developmental disorders account …