christopher geoffrey woods
christopher geoffrey woods
professor of human genetics üzerinde doğrulanmış e-posta adresine sahip
Alıntı yapanlar
Alıntı yapanlar
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
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
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
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
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
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
Flies without centrioles
R Basto, J Lau, T Vinogradova, A Gardiol, CG Woods, A Khodjakov, ...
Cell 125 (7), 1375-1386, 2006
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
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
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
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
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
PLA2G6, encoding a phospholipase A 2, 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
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
Primary microcephaly: do all roads lead to Rome?
GK Thornton, CG Woods
Trends in Genetics 25 (11), 501-510, 2009
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
Large-scale discovery of novel genetic causes of developmental disorders
TDDD Study, TW Fitzgerald, SS Gerety, WD Jones, M van Kogelenberg, ...
Nature 519 (7542), 223-228, 2015
Prevalence and architecture of de novo mutations in developmental disorders
DDD Study, JF McRae, S Clayton, TW Fitzgerald, J Kaplanis, E Prigmore, ...
Nature 542 (7642), 433-438, 2017
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
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
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Makaleler 1–20