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Nature Genetics|December 25, 2012
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomasClaire Palles, Jean-Baptiste Cazier, Kimberley M Howarth, et al.Nature Genetics|December 4, 2012
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolismMomoko Horikoshi, Hanieh Yaghootkar, Dennis O Mook-Kanamori, et al.Nature Genetics|January 8, 2013
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconusYi Lu, Veronique Vitart, Kathryn P Burdon, et al.Nature Genetics|September 17, 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionEnrico Leipold, Lutz Liebmann, G Christoph Korenke, et al.Nature Genetics|September 17, 2013
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degenerationHannes Helgason, Patrick Sulem, Maheswara R Duvvari, et al.Nature Genetics|August 20, 2013
Variants in CPA1 are strongly associated with early onset chronic pancreatitisHeiko Witt, Sebastian Beer, Jonas Rosendahl, et al.Nature Genetics|August 20, 2013
Mapping the fine structure of a eukaryotic promoter input-output functionArun S Rajkumar, Nicolas Dénervaud, Sebastian J MaerklNature Genetics|August 13, 2013
GRIN2A mutations cause epilepsy-aphasia spectrum disordersGemma L Carvill, Brigid M Regan, Simone C Yendle, et al.Nature Genetics|August 13, 2013
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikesJohannes R Lemke, Dennis Lal, Eva M Reinthaler, et al.Nature Genetics|August 27, 2013
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator genePatrick R Sosnay, Karen R Siklosi, Fredrick Van Goor, et al.Pageof 745