-
Miller, KA, Tan, TY, Welfare, MF, White, SM, Stark, Z, Savarirayan, R, Burgess, T, Heggie, AA, Caruana, G, Bertram, JF, et al.
A Mouse Splice-Site Mutant and Individuals with Atypical Chromosome 22q11.2 Deletions Demonstrate the Crucial Role for Crkl in Craniofacial and Pharyngeal Development.
Molecular Syndromology
5(6)
:
276 -286
2014
view publication
-
Roscioli, T, Elakis, G, Cox, TC, Moon, DJ, Venselaar, H, Turner, AM, Le, T, Hackett, E, Haan, E, Colley, A, et al.
Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients.
American Journal of Medical Genetics Part C Seminars in Medical Genetics
163(4)
:
259 -270
2013
view publication
-
Ganesamoorthy, D, Bruno, D, McGillivray, G, Norris, F, White, S, Adroub, S, Amor, D, Yeung, A, Oertel, R, Pertile, et al.
Meeting the challenge of interpreting high‐resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?.
BJOG An International Journal of Obstetrics & Gynaecology
120(5)
:
594 -606
2013
view publication
-
Griffiths, AL, Heggie, A, Holman, S, Robertson, SP, White, SM.
Obstructive Sleep Apnea Successfully Treated by Mandibular Distraction Osteogenesis in a Rare Skeletal Dysplasia.
Journal of Craniofacial Surgery
24(2)
:
508 -510
2013
view publication
-
Akawi, NA, Canpolat, FE, White, SM, Quilis‐Esquerra, J, Sanchez, MM, Gamundi, MJ, Mochida, GH, Walsh, CA, Ali, BR, Al‐Gazali, L.
Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts.
Human Mutation
34(3)
:
498 -505
2013
view publication