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 …

The clinical classification of hereditary sequence variants identified in disease-related genes
directly affects clinical management of patients and their relatives. The International Society …

Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive
degeneration of the peripheral retina leading to night blindness and loss of visual fields. …

Previous studies have localized the gene for Waardenburg syndrome (WS) type I to the distal
portion of chromosome 2q, near the ALPP locus. We pooled linkage data obtained from 41 …

Data from the imaging literature have led to suggestions that permanent structural brain
changes may be associated with bipolar disorder. Individuals diagnosed with bipolar disorder …

Behavioral phenotypes are generally complex, reflecting the action of multiple different
genes. Nevertheless, there is growing evidence that key gene variants can alter activity within …

Alleles of the serotonin transporter gene (SERT) and the dopamine 4 receptor gene (DRD4)
were first associated with anxiety‐related and novelty‐seeking personality traits, respectively…

Spondyloepiphyseal dysplasia (SED) encompasses a heterogeneous group of disorders
characterized by shortening of the trunk and limbs. The autosomal dominant SED type …

Craniometaphyseal dysplasia (CMD) is a rare skeletal disorder characterized by progressive
thickening and increased mineral density of craniofacial bones and abnormally developed …

Introduction: Impaired executive and memory function is a putative genetic trait marker of
bipolar I disorder (BPD I). Although executive/memory function has been posited to be an …