David Kelsell

Author PubWeight™ 13.41‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002 8.19
2 Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol 2005 1.75
3 Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol 2011 1.18
4 Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. J Mol Diagn 2005 1.07
5 Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One 2012 0.89
6 Towards a mutant map of the mouse--new models of neurological, behavioural, deafness, bone, renal and blood disorders. Genetica 2004 0.79