Endometriosis is a common condition associated with debilitating pelvic pain and infertility.
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …

Rare copy-number variants (rCNVs) include deletions and duplications that occur infrequently
in the global human population and can confer substantial risk for disease. In this study, …

Importance The association of copy number variations (CNVs), differing numbers of copies
of genetic sequence at locations in the genome, with phenotypes such as intellectual …

There is considerable inter-individual variability in susceptibility to weight gain despite an
equally obesogenic environment in large parts of the world. Whereas many studies have …

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-…

Epileptic encephalopathies represent a clinically and genetically heterogeneous group of
disorders, majority of which are of unknown etiology. We used whole-exome sequencing of a …

Although chromosomal instability (CIN) is a common phenomenon in cleavage-stage
embryogenesis following in vitro fertilization (IVF) 1 , 2 – 3 , its rate in naturally conceived human …

Endometriosis is a common complex inflammatory condition characterised by the presence
of endometrium-like tissue outside the uterus, mainly in the pelvic area. It is associated with …

Importance Central serous chorioretinopathy (CSC) is a serous maculopathy of unknown
etiology. Two of 3 previously reported CSC genetic risk loci are also associated with AMD. …

The causative variant in a consanguineous family in which the three patients (two siblings
and a cousin) presented with intellectual disability, Marfanoid habitus, craniofacial …