Barth Syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac
and skeletal myopathy, short stature and neutropenia. The disease has been mapped to …

To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide
association studies in 87,802 women of European descent, with replication in up to 14,731 …

… to 28 of 34 tumors from long or flat bones, P = 0.5, Pearson's χ 2 test). Whereas in gliomas, …
All the P values reported are two-sided, and P < 0.05 was considered to indicate … Pio d'Adamo …

Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory
arthritis. By combining data from >140,000 individuals of European ancestry within the Global …

Platelets are the second most abundant cell type in blood and are essential for maintaining
haemostasis. Their count and volume are tightly controlled within narrow physiological …

Reduced glomerular filtration rate defines chronic kidney disease and is associated with
cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide …

… Primers and detection probe of the genes encoding either human RNase-P or mouse
glyceraldehyde-3-phosphate dehydrogenase were used as nuclear gene standard … Pio D'Adamo …

Using principal component (PC) analysis, we studied the genetic constitution of 3,112
individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (…

To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22
genome-wide association studies (GWAS) in 38,968 women of European descent, with …

The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a
heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac …