Research output per year
Research output per year
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Dive into the research topics where Deborah Ruddy is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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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
35 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
82 Citations (Scopus) -
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
97 Citations (Scopus) -
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
38 Citations (Scopus) -
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
2145 Citations (Scopus)