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Human Mutation|October 6, 2009
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHDChristopher J Ricketts, Julia R Forman, Eleanor Rattenberry, et al.Clinical Endocrinology|October 18, 2012
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paragangliomaMariam Jafri, James Whitworth, Eleanor Rattenberry, et al.American Journal of Human Genetics|June 15, 2007
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndromeLekbir Baala, Sophie Audollent, Jéléna Martinovic, et al.Nature Genetics|June 15, 2007
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeMarion Delous, Lekbir Baala, Rémi Salomon, et al.The Journal of Clinical Endocrinology and Metabolism|December 16, 2014
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohortJudit Dénes, Francesca Swords, Eleanor Rattenberry, et al.Pageof 2