This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …

Rearrangements of our genome can be responsible for inherited as well as sporadic traits.
The analyses of chromosome breakpoints in the proximal short arm of Chromosome 17 …

Osteoporosis is a common disease diagnosed primarily by measurement of bone mineral
density (BMD). We undertook a genome-wide association study (GWAS) in 142,487 …

Failure of normal brain development leads to mental retardation or autism in about 3% of
children. Many genes integral to pathways by which synaptic modification and the …

MeCP2 is associated with Rett syndrome (RTT), MECP2 duplication syndrome, and a
number of conditions with isolated features of these diseases, including autism, intellectual …

Recent studies have established an important role for rare genomic deletions and
duplications in the etiology of schizophrenia. This research suggests that the genetic …

Genomic disorders are a group of human genetic diseases caused by genomic
rearrangements resulting in copy-number variation (CNV) affecting a dosage-sensitive gene …

Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …

Smith–Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by
haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11. 2 …

Copy number variation (CNV) contributes to disease and has restructured the genomes of
great apes. The diversity and rate of this process, however, have not been extensively …