Publications
SEQCHIP: a powerful method to integrate sequence and genotype data for the detection of rare variant associations. Bioinformatics 28, 1745-51 (2012).
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer 137, 320-31 (2015).
X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome. Endocrine 51, 236-44 (2016).
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun 4, 56 (2016).