D
David, Smith, A
Researcher at University of Oxford
Publications - 1
Citations - 429
David, Smith, A is an academic researcher from University of Oxford. The author has contributed to research in topics: Genome-wide association study & Disease. The author has an hindex of 1, co-authored 1 publications receiving 394 citations.
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Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease
Carlos Cruchaga,Celeste M. Karch,Sheng Chih Jin,Bruno A. Benitez,Y Cai,Rita Guerreiro,Oscar Harari,Joanne Norton,John P. Budde,Sarah Bertelsen,AT Jeng,B Cooper,Tara Skorupa,David Carrell,D Levitch,S Hsu,Jae-Young Choi,Mina Ryten,John Hardy,Daniah Trabzuni,Michael E. Weale,Adaikalavan Ramasamy,Colin Smith,Celeste Sassi,Jose Bras,Gibbs,Dena G. Hernandez,Michelle K. Lupton,John Powell,Paola Forabosco,Perry G. Ridge,Chris Corcoran,JoAnn T. Tschanz,Maria C. Norton,Ronald G. Munger,Cameron Schmutz,M Leary,F. Y. Demirci,Mikhil Bamne,Xingbin Wang,Oscar L. Lopez,Mary Ganguli,Christopher Medway,James Turton,Jenny Lord,Anne Braae,Imelda Barber,Kristelle Brown,Peter Passmore,David Craig,Janet A. Johnston,Bernadette McGuinness,Stephen Todd,R. Heun,Heike Kölsch,Patrick G. Kehoe,Nigel M. Hooper,Emma R.L.C. Vardy,David M. A. Mann,Stuart Pickering-Brown,Noor Kalsheker,James Lowe,Kevin Morgan,David, Smith, A,Gordon K. Wilcock,Donald Warden,Clive Holmes,Pau Pastor,Oswaldo Lorenzo-Betancor,Zoran Brkanac,E Scott,Eric J. Topol,Ekaterina Rogaeva,Andrew B. Singleton,MI Kamboh,St, George-Hyslop, P,Nigel J. Cairns,John C. Morris,John S. K. Kauwe,Alison Goate +79 more
TL;DR: The genetic and functional data indicate that carriers of PLD3 coding variants have a twofold increased risk for LOAD and thatPLD3 influences APP processing, and provides an example of how densely affected families may help to identify rare variants with large effects on risk for disease or other complex traits.