Research output per year
Research output per year
Search results
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2015
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies
Sukalo, M., Tilsen, F., Kayserili, H., Müller, D., Tüysüz, B., Ruddy, D. M., Wakeling, E., Ørstavik, K. H., Snape, K. M., Trembath, R., De Smedt, M., van der Aa, N., Skalej, M., Mundlos, S., Wuyts, W., Southgate, L. & Zenker, M., Jun 2015, In: Human Mutation. 36, 6, p. 593-8 6 p.Research output: Contribution to journal › Article › peer-review
36 Citations (Scopus) -
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies
Southgate, L., Sukalo, M., Karountzos, A. S. V., Taylor, E. J., Collinson, C. S., Ruddy, D., Snape, K. M., Dallapiccola, B., Tolmie, J. L., Joss, S., Brancati, F., Digilio, M. C., Graul-Neumann, L. M., Salviati, L., Coerdt, W., Jacquemin, E., Wuyts, W., Zenker, M., Machado, R. D. & Trembath, R. C., Aug 2015, In: Circulation-Cardiovascular Genetics. 8, 4, p. 572-81 10 p.Research output: Contribution to journal › Article › peer-review
83 Citations (Scopus) -
2011
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., Blaumeiser, B., Winship, W. S., Reardon, W., Maher, E. R., FitzPatrick, D. R., Wuyts, W., Zenker, M. & Lamarche-Vane, N. & 1 others, , 13 May 2011, In: American Journal of Human Genetics. 88, 5, p. 574 - 585 12 p.Research output: Contribution to journal › Article › peer-review
98 Citations (Scopus) -
2010
Vici Syndrome Associated With Sensorineural Hearing Loss and Evidence of Neuromuscular Involvement on Muscle Biopsy
McClelland, V., Cullup, T., Bodi, I., Ruddy, D., Buj-Bello, A., Biancalana, V., Boehm, J., Bitoun, M., Miller, O., Jan, W., Mason, E., Amaya, L., Trounce, J., Laporte, J., Mohammed , S., Sewry, C., Raiman, J. & Jungbluth, H., Mar 2010, In: American Journal of Medical Genetics. Part A. 152A, 3, p. 741 - 747 7 p.Research output: Contribution to journal › Article › peer-review
40 Citations (Scopus) -
2009
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
Vance, C., Rogelj, B., Hortobágyi, T., De Vos, K. J., Nishimura, A. L., Sreedharan, J., Hu, X., Smith, B., Ruddy, D., Wright, P., Ganesalingam, J., Williams, K. L., Tripathi, V., Al-Saraj, S., Al-Chalabi, A., Leigh, P. N., Blair, I. P., Nicholson, G., de Belleroche, J. & Gallo, J.-M. & 2 others, , 27 Feb 2009, In: Science. 323, 5918, p. 1208-11 4 p.Research output: Contribution to journal › Article › peer-review
2182 Citations (Scopus) -
2006
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.
Vance, C., Al-Chalabi, A., Ruddy, D., Smith, B. N., Hu, X., Sreedharan, J., Siddique, T., Schelhaas, H. J., Kusters, B., Troost, D., Baas, F., de Jong, V. & Shaw, C. E., Apr 2006, In: Brain. 129, 4, p. 868 - 876 9 p.Research output: Contribution to journal › Article › peer-review
341 Citations (Scopus) -
2003
A novel locus for motor neurone disease on chromosome 16q12-13
Ruddy, D. & Shaw, C., 2003, In: Clinical Science. 104, p. 40PResearch output: Contribution to journal › Meeting abstract
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Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q
Ruddy, D. M., Parton, M. J., Al-Chalabi, A., Lewis, C. M., Vance, C., Smith, B. N., Leigh, P. N., Powell, J. F., Siddique, T., Meyjes, E. P., Baas, F., De Jong, V. & Shaw, C. E., 1 Aug 2003, In: American Journal of Human Genetics. 73, 2, p. 390 - 396 7 p.Research output: Contribution to journal › Article › peer-review
77 Citations (Scopus)