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• Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD24
• Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases19
• Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-201718
• Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome16
• Perturbations of BMP/TGF-beta and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)15
• Genetic tests in lymphatic vascular malformations and lymphedema14
• Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders13
• Clinical spectrum and pleiotropic nature of CDH1 germline mutations13
• Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC)12
• Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features11