Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.

by Michael A Nalls, Javier Simon-Sanchez, J Raphael Gibbs, Coro Paisan-Ruiz, Jose Tomas Bras, Toshiko Tanaka, Mar Matarin, Sonja Scholz, Charles Weitz, Tamara B Harris, Luigi Ferrucci, John Hardy, Andrew B Singleton
Published 2009-03-01

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

by Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin, Dena Hernandez, Javier Simon-Sanchez, Nick W Wood, Paola Giunti, Ian Rafferty, John Hardy, Elsdon Storey, R J McKinlay Gardner, Susan M Forrest, Elizabeth M C Fisher, James T Russell, Huaibin Cai, Andrew B Singleton
Published 2007-06-01

A genome-wide association study identifies protein quantitative trait loci (pQTLs).

by David Melzer, John R B Perry, Dena Hernandez, Anna-Maria Corsi, Kara Stevens, Ian Rafferty, Fulvio Lauretani, Anna Murray, J Raphael Gibbs, Giuseppe Paolisso, Sajjad Rafiq, Javier Simon-Sanchez, Hana Lango, Sonja Scholz, Michael N Weedon, Sampath Arepalli, Neil Rice, Nicole Washecka, Alison Hurst, Angela Britton, William Henley, Joyce van de Leemput, Rongling Li, Anne B Newman, Greg Tranah, Tamara Harris, Vijay Panicker, Colin Dayan, Amanda Bennett, Mark I McCarthy, Aimo Ruokonen, Marjo-Riitta Jarvelin, Jack Guralnik, Stefania Bandinelli, Timothy M Frayling, Andrew Singleton, Luigi Ferrucci
Published 2008-05-01