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 …

The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a
collaborative network of researchers working together on a range of large-scale studies that …

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 …

Evidence from many sources suggests that similar phenotypes are begotten by functionally
related genes. This is most obvious in the case of genetically heterogeneous diseases such …

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 …

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

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-…

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 …

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

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 …