2011

• Andreucci, E., Aftimos, S., Alcausin, M., Haan, E., Hunter, W., Kannu, P., Kerr, B., McGillivray, G., McKinlay Gardner, R., Patricelli, M., Sillence, D., Thompson, E., Zacharin, M., Zankl, A., Lamandé, S., Savarirayan, R. (2011), TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet Journal of Rare Diseases. 6, 37. [Abstract]

2010

• David-Vizcarra, G., Briody, J., Ault, J., Fietz, M., Fletcher, J., Savarirayan, R., Wilson, M., McGill, J., Edwards, M., Munns, C., Alcausin, M., Cathey, S., Sillence, D. (2010), The natural history and osteodystrophy of mucolipidosis types II and III. Journal of paediatrics and child health. 46(6), 316-22. [Abstract]
• Dale, R., Gornall, H., Singh-Grewal, D., Alcausin, M., Rice, G., Crow, Y. (2010), Familial Aicardi-Gouti??res syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. American Journal of Medical Genetics. Part A. 152A(4), 938-942. [Abstract]