[HTML][HTML] European consensus statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

U Boehm, PM Bouloux, MT Dattani… - Nature Reviews …, 2015 - nature.com
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the
deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which …

Pubertal development and regulation

AP Abreu, UB Kaiser - The lancet Diabetes & endocrinology, 2016 - thelancet.com
Puberty marks the end of childhood and is a period when individuals undergo physiological
and psychological changes to achieve sexual maturation and fertility. The hypothalamic …

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - Nature …, 2021 - nature.com
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …

[PDF][PDF] Leveraging polygenic functional enrichment to improve GWAS power

G Kichaev, G Bhatia, PR Loh, S Gazal, K Burch… - The American Journal of …, 2019 - cell.com
Functional genomics data has the potential to increase GWAS power by identifying SNPs
that have a higher prior probability of association. Here, we introduce a method that …

Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - BioRxiv, 2018 - biorxiv.org
While many disease-associated variants have been identified through genome-wide
association studies, their downstream molecular consequences remain unclear. To identify …

Resource profile and user guide of the Polygenic Index Repository

J Becker, CAP Burik, G Goldman, N Wang… - Nature human …, 2021 - nature.com
Polygenic indexes (PGIs) are DNA-based predictors. Their value for research in many
scientific disciplines is growing rapidly. As a resource for researchers, we used a consistent …

[HTML][HTML] Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

F Day, T Karaderi, MR Jones, C Meun, C He… - PLoS …, 2018 - journals.plos.org
Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism,
ovulatory dysfunction and polycystic ovarian morphology. Affected women frequently have …

A molecular census of arcuate hypothalamus and median eminence cell types

JN Campbell, EZ Macosko, H Fenselau, TH Pers… - Nature …, 2017 - nature.com
The hypothalamic arcuate–median eminence complex (Arc-ME) controls energy balance,
fertility and growth through molecularly distinct cell types, many of which remain unknown …

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and …

J Zheng, AM Erzurumluoglu, BL Elsworth… - …, 2017 - academic.oup.com
Motivation LD score regression is a reliable and efficient method of using genome-wide
association study (GWAS) summary-level results data to estimate the SNP heritability of …

An atlas of genetic correlations across human diseases and traits

B Bulik-Sullivan, HK Finucane, V Anttila, A Gusev… - Nature …, 2015 - nature.com
Identifying genetic correlations between complex traits and diseases can provide useful
etiological insights and help prioritize likely causal relationships. The major challenges …