M. Alcausin

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

E. Haan, D. Sillence, S. Aftimos, 2011, Orphanet journal of rare diseases.

Intravenous Pamidronate Treatment in Children with Moderate-to-Severe Osteogenesis Imperfecta Started under Three Years of Age

D. Sillence, R. Engelbert, J. Briody, 2013, Hormone Research in Paediatrics.

The natural history and osteodystrophy of mucolipidosis types II and III

D. Sillence, J. Fletcher, Meredith Wilson, 2010, Journal of paediatrics and child health.

Familial Aicardi–Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures

Y. Crow, G. Rice, D. Singh-Grewal, 2010, American journal of medical genetics. Part A.

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

D. Sillence, S. Robertson, A. Mégarbané, 2010, American journal of medical genetics. Part A.

The natural history and osteodystrophy of mucolipidosis types II and III

D. Sillence, J. Fletcher, Meredith Wilson, 2010, Journal of paediatrics and child health.