High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita

Haploinsufficiency of t <i>e</i> lomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

Mary Armanios, Yen-Pei C. Chang, Robert A. Brodsky et al. · Proceedings of the National Academy of Sciences · 2005 · 453 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

Blanche P. Alter, Gabriela M. Baerlocher, Sharon A. Savage et al. · Blood · 2007 · 350 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Simultaneous mutation scanning and genotyping by high-resolution DNA melting analysis

Jesse Montgomery, Carl T. Wittwer, Robert Palais et al. · Nature Protocols · 2007 · 299 citations

Life Sciences, Genetics, Molecular Genetics +12

High resolution melting analysis for the rapid and sensitive detection of mutations in clinical samples: KRAS codon 12 and 13 mutations in non-small cell lung cancer

Michael Krypuy, Genni M Newnham, David M. Thomas et al. · BMC Cancer · 2006 · 293 citations · Full text

Medicine, Molecular Biology, Oncology +16

X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene

S. W. Knight, Nina S. Heiss, T. Vulliamy et al. · The American Journal of Human Genetics · 1999 · 264 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7