Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
Andrew Kirby, Mark J. Daly(Harvard University), Aviv Regev(Broad Institute), Kerstin Lindblad‐Toh(Broad Institute), Brendan Blumenstiel(Broad Institute), Steven J. Scheinman(SUNY Upstate Medical University), James Robinson(Unknown), Seth L. Alper(Beth Israel Deaconess Medical Center), Irit Gat‐Viks(Broad Institute), David B. Jaffe(Alameda Hospital), Martin R. Pollak(Brigham and Women's Hospital), Eric S. Lander(Broad Institute), Christine Stevens(Broad Institute), P. Suzanne Hart(University of Pittsburgh), Petr Vyleťal(Charles University), Riza M. Daza(University of Washington), Michael C. Zody(Broad Institute), Edward Kelliher(Broad Institute), Chad Nusbaum(Rutgers, The State University of New Jersey), Elizabeth J. Rossin(Broad Institute), Mitchell Guttman(California Institute of Technology), Todd J. Green(Harvard University), Robert E. Handsaker(Harvard University), Ramnik J. Xavier(Broad Institute), Kristian Cibulskis(Broad Institute), Daniel Aird, Melissa Parkin(Broad Institute), Danielle Perrin(Broad Institute), Corinne Antignac(Hôpital Necker-Enfants Malades), Moran N. Cabili(Harvard University), Anthony J. Bleyer(Wake Forest University), Scott Steelman(University of California, San Francisco), Carrie Sougnez(Broad Institute), Matthew DeFelice(Broad Institute), Stanislav Kmoch(Charles University), Veronika Barešová(Charles University), Snævar Sigurðsson(Broad Institute), Nathalie Pochet(Albert Einstein College of Medicine), Stacey B. Gabriel(Broad Institute), Andreas Gnirke(Broad Institute), Jana Sovová(Charles University), Chun Ye(Broad Institute), Helena Hůlková(Charles University)
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