Children born small for gestational age (SGA), defined as a birth weight and/or length
below− 2 SD score (SDS), comprise a heterogeneous group. The causes of SGA are …

The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …

Context: Genetics plays a major role in determining an individual's height. Although there
are many monogenic disorders that lead to perturbations in growth and result in short …

Recent advances in fast and inexpensive DNA sequencing have enabled the extensive
study of genomic and transcriptomic variation in humans. Human genomic variation is …

The impact of copy-number variations (CNVs) on complex human traits remains
understudied. We called CNVs in 331,522 UK Biobank participants and performed genome …

Genome-wide association studies (GWAS) have provided valuable insights into the genetic
basis of complex traits, discovering> 6000 variants associated with> 500 quantitative traits …

Abstract Background Copy-number variations (CNVs) have been associated with rare and
debilitating genomic disorders (GDs) but their impact on health later in life in the general …

The human genome contains hundreds of thousands of regions harboring copy-number
variants (CNV). However, the phenotypic effects of most such polymorphisms are unknown …

Short stature is a common presentation to paediatric endocrinologists. After exclusion of
major endocrine or systemic disease, most children with short stature are diagnosed based …

There are few examples of robust associations between rare copy number variants (CNVs)
and complex continuous human traits. Here we present a large-scale CNV association meta …