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 | 1907 | 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 | 1459 | 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 | 977 | 2003 |
Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 950 | 2017 |
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 | 865 | 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 | 847 | 2008 |
Flies without centrioles R Basto, J Lau, T Vinogradova, A Gardiol, CG Woods, A Khodjakov, ... Cell 125 (7), 1375-1386, 2006 | 818 | 2006 |
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 | 814 | 1998 |
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 | 779 | 2006 |
Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 778 | 2015 |
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 | 763 | 2002 |
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 | 678 | 2005 |
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 | 654 | 1999 |
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 | 584 | 2006 |
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 | 552 | 2002 |
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 | 540 | 2005 |
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 | 531 | 2010 |
Primary microcephaly: do all roads lead to Rome? GK Thornton, CG Woods Trends in Genetics 25 (11), 501-510, 2009 | 486 | 2009 |
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 | 429 | 2008 |
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 | 413 | 2011 |