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Our publications

Publications, reports & submissions

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G. Lee MK, et al. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood. 2016. 127 (8) : 1017—23.

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]

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.

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.

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.

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.
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