Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
Nature Genetics2013Vol. 45(3), pp. 299–303
Citations Over TimeTop 1% of 2013 papers
Andrew Kirby, Andreas Gnirke, David B. Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, Daniel Aird, Christine Stevens, James Robinson, Moran N. Cabili, Irit Gat‐Viks, Edward Kelliher, Riza M. Daza, Matthew DeFelice, Helena Hůlková, Jana Sovová, Petr Vyleťal, Corinne Antignac, Mitchell Guttman, Robert E. Handsaker, Danielle Perrin, Scott Steelman, Snævar Sigurðsson, Steven J. Scheinman, Carrie Sougnez, Kristian Cibulskis, Melissa Parkin, Todd J. Green, Elizabeth J. Rossin, Michael C. Zody, Ramnik J. Xavier, Martin R. Pollak, Seth L. Alper, Kerstin Lindblad‐Toh, Stacey B. Gabriel, P. Suzanne Hart, Aviv Regev, Chad Nusbaum, Stanislav Kmoch, Anthony J. Bleyer, Eric S. Lander, Mark J. Daly
Related Papers
- → Massively parallel sequencing techniques for forensics: A review(2018)196 cited
- → The Rate of Compensatory Mutation in the DNA Bacteriophage φX174(2005)155 cited
- → Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants(2015)17 cited
- → Clinical application of next generation sequencing in molecular diagnosis of intellectual disability/global developmental delay(2019)
- → Whole-exome sequencing and its applications in the research of hereditary disease(2012)