Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome
De Sousa SM, Kassahn KS, McIntyre LC, Chong CE, Scott HS, Torpy DJ. Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome. BMC Endocrine Disorders. 2016. 16 (1) : 58.

Targeted pharmacotherapy after somatic cancer mutation screening
Polasek TM, Ambler K, Scott HS, Sorich MJ, Kaub PA, Rowland A, et al. Targeted pharmacotherapy after somatic cancer mutation screening. F1000Research. 2016. 5 : 1551.

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing
Barnett CP, Nataren NJ, Klingler-Hoffmann M, Schwarz Q, Chong CE, Lee YK, et al. Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing. Human Mutation. 2016. 37 (9) : 955—63.

Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications
Gagliardi L, Burt MG, Feng J, Poplawski NK, Scott HS. Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications. Clinical Endocrinology. 2016. 85 (3) : 495—7.

Apparent 'JAK2-negative' polycythaemia vera due to compound mutations in exon 14
Tiong IS, Casolari DA, Moore S, Nguyen T, Van Velzen MJ, Zantomio D, et al. Apparent 'JAK2-negative' polycythaemia vera due to compound mutations in exon 14. British Journal of Haematology. 2016. [Epub ahead of print]