Apparent ‘JAK2-negative’ polycythaemia vera due to compound mutations in...
Tiong IS, Casolari DA, Moore S, Nguyen T, Van Velzen MJ, Zantomio D, et al....
December 3, 2016
Read More >
Autosomal dominant hypocalcaemia due to a novel CASR mutation:...
Gagliardi L, Burt MG, Feng J, Poplawski NK, Scott HS. Autosomal dominant hypocalcaemia due to...
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous...
Barnett CP, Nataren NJ, Klingler-Hoffmann M, Schwarz Q, Chong CE, Lee YK, et al. Ectrodactyly...
Targeted pharmacotherapy after somatic cancer mutation screening
Polasek TM, Ambler K, Scott HS, Sorich MJ, Kaub PA, Rowland A, et al. Targeted...
Case report of whole genome sequencing in the XY...
De Sousa SM, Kassahn KS, McIntyre LC, Chong CE, Scott HS, Torpy DJ. Case report...
COBL is a novel hotspot for IKZF1 deletions in...
Lopes BA, Meyer C, Barbosa TC, Zur Stadt U, Horstmann M, Venn NC, et al....
Characterization of leukemias with ETV6-ABL1 fusion
Zaliova M, Moorman AV, Cazzaniga G, Stanulla M, Harvey RC, Roberts KG, et al. Characterization...
A federated ecosystem for sharing genomic, clinical data
Global Alliance for Genomics and Health. A federated ecosystem for sharing genomic, clinical data. Science....
A prospective evaluation of whole-exome sequencing as a first-tier...
Stark Z, Tan T.Y, Chong B, Brett G.R, Yap P, Walsh M, et al. A...
November 17, 2016
