Concepedia

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

Tommaso Pippucci, Anna Savoia, Silverio Perrotta, Núria Pujol‐Moix, Patrizia Noris, Giovanni Castegnaro, Alessandro Pecci, Chiara Gnan, Francesca Punzo, Caterina Marconi,

The American Journal of Human Genetics · 2011 · 220 citations · 14 references

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14

Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

Gonçalo R. Abecasis, Stacey S. Cherny, William Cookson et al. · Nature Genetics · 2001 · 3.4K citations

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The complete genome of an individual by massively parallel DNA sequencing

David A. Wheeler, Maithreyan Srinivasan, Yufeng Shen et al. · Nature · 2008 · 1.8K citations · Full text

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HaploPainter: a tool for drawing pedigrees with complex haplotypes

Holger Thiele, Peter Nürnberg · Computer applications in the biosciences · 2004 · 277 citations · Full text

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A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia

Ian M. Morison, Elisabeth M. Cramer, Emma J. Cheesman et al. · Nature Genetics · 2008 · 179 citations

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Comparative gene expression profiling of in vitro differentiated megakaryocytes and erythroblasts identifies novel activatory and inhibitory platelet membrane proteins

Iain C. Macaulay, Marloes R. Tijssen, Daphne C. Thijssen‐Timmer et al. · Blood · 2006 · 170 citations · Full text

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