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Our publications

Publications, reports & submissions

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.

COBL is a novel hotspot for IKZF1 deletions in childhood acute lymphoblastic leukemia

Lopes BA, Meyer C, Barbosa TC, Zur Stadt U, Horstmann M, Venn NC, et al. COBL is a novel hotspot for IKZF1 deletions in childhood acute lymphoblastic leukemia. Oncotarget. 2016. 7 (33) : 53064—53073.

Characterization of leukemias with ETV6-ABL1 fusion

Zaliova M, Moorman AV, Cazzaniga G, Stanulla M, Harvey RC, Roberts KG, et al. Characterization of leukemias with ETV6-ABL1 fusion. Haematologica. 2016. 101 (9) : 1082—93.

A federated ecosystem for sharing genomic, clinical data

Global Alliance for Genomics and Health. A federated ecosystem for sharing genomic, clinical data. Science. 2016. 352 (6291) : 1278-80.

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Stark Z, Tan T.Y, Chong B, Brett G.R, Yap P, Walsh M, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genetics in Medicine. 2016. 18 (11) : 1090—96.

Known unknowns: building an ethics of uncertainty into genomic medicine

Newson A.J, Leonard S.J, Hall A, Gaff C.L. Known unknowns: building an ethics of uncertainty into genomic medicine. BMC Medical Genomics. 2016. 9 (1) : 57.

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Sadedin S, Dashnow H, James P, Bahlo M, Bauer D, Lonie A, et al. Cpipe: a shared variant detection pipeline designed for diagnostic settings. Genome Medicine. 2015. 7 (1) : 68.
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