Background Reliable estimates of cancer risk are critical for guiding management of BRCA1
and BRCA2 mutation carriers. The aims of this study were to derive penetrance estimates …

… Gareth Evans, Marc Tischkowitz, Trevor Cole, Rosemarie Davidson, Diana Eccles,
Carole Brewer, Fiona Douglas, Mary E. Porteous, Alan Donaldson, Huw Dorkins, Louise …

Hypertension affects one billion people and is a principal reversible risk factor for
cardiovascular disease. Pseudohypoaldosteronism type II (PHAII), a rare Mendelian syndrome …

Importance Limited information about the relationship between specific mutations
inBRCA1orBRCA2(BRCA1/2) and cancer risk exists. Objective To identify mutation-specific cancer …

Inherited mutations in the E-cadherin gene (CDH1) were described recently in three Maori
kindreds with familial gastric cancer. Familial gastric cancer is genetically heterogeneous and …

Succinate dehydrogenase B (SDHB) and D (SDHD) subunit gene mutations predispose to
adrenal and extraadrenal pheochromocytomas, head and neck paragangliomas (HNPGL), …

By analyzing the whole-exome sequences of 4,264 schizophrenia cases, 9,343 controls
and 1,077 trios, we identified a genome-wide significant association between rare loss-of-…

Beckwith‐Wiedemann syndrome (BWS) is a congenital overgrowth syndrome with variable
expression. To define the range and frequency of complications in BWS, we have studied a …

The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also
known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic …

We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions
encompassing NSD1 (referred to as "NSD1-positive individuals"), through analyses of 530 …