C. Wise

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

G. Ravenscroft, N. Laing, N. Pachter, 2020, Annals of clinical and translational neurology.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Kenneth D. Doig, K. Friend, J. Pearson, 2022, American journal of human genetics.

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Gloria L. Porras-Hurtado, A. Drake, D. Chitayat, 2021, Nature Communications.

Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2

N. Laing, J. Boutilier, P. Lamont, 2015, Clinical genetics.