Items where authors include "Irving, M."

Article

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Belles, R.S., Salbert, B.A. et al. (21 more authors) (2023) The prevalence and phenotypic range associated with biallelic PKDCC variants. Clinical Genetics, 104 (1). pp. 121-126. ISSN 0009-9163

Sabir, A.H., Morley, E., Sheikh, J. et al. (11 more authors) (2021) Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era. BMC Medical Genomics, 14 (1). 148.

Hoover-Fong, J., Cheung, M.S., Fano, V. et al. (14 more authors) (2021) Lifetime impact of achondroplasia: current evidence and perspectives on the natural history. Bone, 146. 115872. ISSN 8756-3282

Savarirayan, R., Irving, M., Maixner, W. et al. (10 more authors) (2021) Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery. Science Progress, 104 (1). ISSN 0036-8504

McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836

Fitzgerald, T.W., Gerety, S.S., Jones, W.D. et al. (263 more authors) (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519. pp. 223-228. ISSN 0028-0836