-
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