Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly

(2011) S. Fabbro et al.   BLOOD

The GENCODE exome: sequencing the complete human exome

(2011) Alison J Coffey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

(2010) M. Gunay-Aygun et al.   BLOOD

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles

(2010) Dries Castermans et al.   HUMAN MOLECULAR GENETICS

The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome

(2010) D. M. MAYNARD et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses

(2009) Lucian Medrihan et al.   JOURNAL OF PHYSIOLOGY-LONDON

The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

(2008) Mathieu Firmann et al.   BMC Cardiovascular Disorders