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]

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.

Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene
Ross DM, Altamura HK, Hahn CN, Nicola M, Yeoman A L, Holloway MR, et al. Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene. Leukemia. 2016. 30 (6) : 1402—5.