Christopher Geoffrey Woods

Christopher Geoffrey Woods

University of Cambridge - Cambridge / United Kingdom
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 1332705
person_outline Christopher Geoffrey Woods's MOST POPULAR ARTICLES
1-) An SCN9A channelopathy causes congenital inability to experience painJJ Cox, F Reimann, AK Nicholas, G Thornton, E Roberts, K Springell, ...Nature 444 (7121), 894-898, 200616872006
2-) Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPaseA Ramirez, A Heimbach, J Gründemann, B Stiller, D Hampshire, LP Cid, ...Nature genetics 38 (10), 1184-1191, 200613052006
3-) A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndromeM O\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\'Driscoll, VL Ruiz-Perez, CG Woods, PA Jeggo, JA GoodshipNature genetics 33 (4), 497-501, 20039162003
4-) Prevalence and architecture of de novo mutations in developmental disordersNature 542 (7642), 433-438, 20179672017
5-) Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndromeJ Celli, P Duijf, BCJ Hamel, M Bamshad, B Kramer, APT Smits, ...Cell 99 (2), 143-153, 19998661999