A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

(2012) Carlos Cruchaga et al.   PLoS One

Identification of low-frequency variants associated with gout and serum uric acid levels

(2011) Patrick Sulem et al.   NATURE GENETICS

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

(2011) Hilma Holm et al.   NATURE GENETICS

APP processing in Alzheimer's disease

(2011) Yun-wu Zhang et al.   Molecular Brain

Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features

(2010) Giorgio Giaccone et al.   ACTA NEUROPATHOLOGICA

Fine-scale recombination rate differences between sexes, populations and individuals

(2010) Augustine Kong et al.   NATURE

A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis

(2009) G. Di Fede et al.   SCIENCE

Detection of sharing by descent, long-range phasing and haplotype imputation

(2008) Augustine Kong et al.   NATURE GENETICS