Seguir
christopher geoffrey woods
christopher geoffrey woods
professor of human genetics
Dirección de correo verificada de cam.ac.uk
Título
Citado por
Citado por
Año
An SCN9A channelopathy causes congenital inability to experience pain
JJ Cox, F Reimann, AK Nicholas, G Thornton, E Roberts, K Springell, ...
Nature 444 (7121), 894-898, 2006
19072006
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
A Ramirez, A Heimbach, J Gründemann, B Stiller, D Hampshire, LP Cid, ...
Nature genetics 38 (10), 1184-1191, 2006
14592006
A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome
M O'Driscoll, VL Ruiz-Perez, CG Woods, PA Jeggo, JA Goodship
Nature genetics 33 (4), 497-501, 2003
9772003
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
9502017
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
J Celli, P Duijf, BCJ Hamel, M Bamshad, B Kramer, APT Smits, ...
Cell 99 (2), 143-153, 1999
8651999
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes
HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ...
New England Journal of Medicine 359 (16), 1685-1699, 2008
8472008
Flies without centrioles
R Basto, J Lau, T Vinogradova, A Gardiol, CG Woods, A Khodjakov, ...
Cell 125 (7), 1375-1386, 2006
8182006
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation
DJ Marsh, V Coulon, KL Lunetta, P Rocca-Serra, PLM Dahia, Z Zheng, ...
Human molecular genetics 7 (3), 507-515, 1998
8141998
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
YJ Crow, A Leitch, BE Hayward, A Garner, R Parmar, E Griffith, M Ali, ...
Nature genetics 38 (8), 910-916, 2006
7792006
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7782015
ASPM is a major determinant of cerebral cortical size
J Bond, E Roberts, GH Mochida, DJ Hampshire, S Scott, JM Askham, ...
Nature genetics 32 (2), 316-320, 2002
7632002
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
J Bond, E Roberts, K Springell, S Lizarraga, S Scott, J Higgins, ...
Nature genetics 37 (4), 353-355, 2005
6782005
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis
C Toomes, J James, AJ Wood, CL Wu, D McCormick, N Lench, C Hewitt, ...
Nature genetics 23 (4), 421-424, 1999
6541999
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
NV Morgan, SK Westaway, JEV Morton, A Gregory, P Gissen, S Sonek, ...
Nature genetics 38 (7), 752-754, 2006
5842006
Identification of microcephalin, a protein implicated in determining the size of the human brain
AP Jackson, H Eastwood, SM Bell, J Adu, C Toomes, IM Carr, E Roberts, ...
The American Journal of Human Genetics 71 (1), 136-142, 2002
5522002
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings
CG Woods, J Bond, W Enard
The American Journal of Human Genetics 76 (5), 717-728, 2005
5402005
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome
B Kremeyer, F Lopera, JJ Cox, A Momin, F Rugiero, S Marsh, CG Woods, ...
Neuron 66 (5), 671-680, 2010
5312010
Primary microcephaly: do all roads lead to Rome?
GK Thornton, CG Woods
Trends in Genetics 25 (11), 501-510, 2009
4862009
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
V Cantagrel, JL Silhavy, SL Bielas, D Swistun, SE Marsh, JY Bertrand, ...
The American Journal of Human Genetics 83 (2), 170-179, 2008
4292008
Centrosomes and cilia in human disease
M Bettencourt-Dias, F Hildebrandt, D Pellman, G Woods, SA Godinho
Trends in Genetics 27 (8), 307-315, 2011
4132011
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20