Stals, KL, Wakeling, M, Baptista, J, Caswell, R, Parrish, A, Rankin, J, Tysoe, C, Jones, G, Gunning, AC, Allen, HL, et al.
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing.
Prenatal Diagnosis
38(1)
:
33 -43
2018
view publication
White, KK, Bompadre, V, Goldberg, MJ, Bober, MB, Cho, T, Hoover‐Fong, JE, Irving, M, Mackenzie, WG, Kamps, SE, Raggio, C, et al.
Best practices in peri‐operative management of patients with skeletal dysplasias.
American Journal of Medical Genetics Part A
173(10)
:
2584 -2595
2017
view publication
Tan, TY, Dillon, OJ, Stark, Z, Schofield, D, Alam, K, Shrestha, R, Chong, B, Phelan, D, Brett, GR, Creed, E, et al.
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
JAMA Pediatrics
171(9)
:
855 -862
2017
view publication
Simm, PJ, Savarirayan, R.
Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia.
Journal of Paediatrics and Child Health
53(9)
:
925 -926
2017
view publication
Lamandé, SR, Cameron, TL, Savarirayan, R, Bateman, JF.
Molecular Genetics of the Cartilage Collagenopathies.
99 -133
2017
view publication