Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Prybol, Cameron J."'
Autor:
Basenko, Evelina Y., Sasaki, Takahiko, Ji, Lexiang, Prybol, Cameron J., Burckhardt, Rachel M., Schmitz, Robert J., Lewis, Zachary A.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2015 Nov . 112(46), E6339-E6348.
Externí odkaz:
https://www.jstor.org/stable/26466472
Autor:
Basen, Mirko, Schut, Gerrit J., Nguyen, Diep M., Lipscomb, Gina L., Benn, Robert A., Prybol, Cameron J., Vaccaro, Brian J., Poole, Farris L, Kelly, Robert M., Adams, Michael W. W.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2014 Dec 01. 111(49), 17618-17623.
Externí odkaz:
https://www.jstor.org/stable/43278728
Autor:
Basen, Mirko, Rhaesa, Amanda M., Kataeva, Irina, Prybol, Cameron J., Scott, Israel M., Poole, Farris L., Adams, Michael W.W.
Publikováno v:
In Bioresource Technology January 2014 152:384-392
Publikováno v:
PLoS ONE. 11/29/2017, Vol. 12 Issue 11, p1-24. 24p.
Autor:
Frésard, Laure, Smail, Craig, Ferraro, Nicole M, Teran, Nicole A, Li, Xin, Smith, Kevin S, Bonner, Devon, Kernohan, Kristin D, Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R, Liu, Boxiang, Prybol, Cameron J, Kohler, Jennefer N, Zastrow, Diane B, Reuter, Chloe M, Fisk, Dianna G, Grove, Megan E, Davidson, Jean M, Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J, Utiramerur, Sowmithri, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A, Ashley, Euan A, Boycott, Kym M, Merker, Jason D, Wheeler, Matthew T, Montgomery, Stephen B
Publikováno v:
Nature medicine, vol 25, iss 6
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene1. The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7a937b0da47e7c3fd8b8b9e9290da12f
https://escholarship.org/uc/item/4gq9c79v
https://escholarship.org/uc/item/4gq9c79v
Akademický článek
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Autor:
Kim P; Locus Biosciences, Morrisville, NC, USA. Electronic address: paul.kim@locus-bio.com., Sanchez AM; Locus Biosciences, Morrisville, NC, USA., Penke TJR; Locus Biosciences, Morrisville, NC, USA., Tuson HH; Locus Biosciences, Morrisville, NC, USA., Kime JC; Locus Biosciences, Morrisville, NC, USA., McKee RW; Locus Biosciences, Morrisville, NC, USA., Slone WL; Viridian Therapeutics, Waltham, MA, USA., Conley NR; Locus Biosciences, Morrisville, NC, USA., McMillan LJ; Locus Biosciences, Morrisville, NC, USA., Prybol CJ; Locus Biosciences, Morrisville, NC, USA., Garofolo PM; Locus Biosciences, Morrisville, NC, USA.
Publikováno v:
The Lancet. Infectious diseases [Lancet Infect Dis] 2024 Aug 09. Date of Electronic Publication: 2024 Aug 09.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Autor:
Frésard L; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA. lfresard@stanford.edu., Smail C; Biomedical Informatics Program, Stanford University, Stanford, CA, USA., Ferraro NM; Biomedical Informatics Program, Stanford University, Stanford, CA, USA., Teran NA; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA., Li X; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA., Smith KS; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA., Bonner D; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Kernohan KD; Newborn Screening Ontario (NSO), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Marwaha S; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Stanford Cardiovascular Institute, School of Medicine, Stanford University, Stanford, CA, USA., Zappala Z; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA., Balliu B; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA., Davis JR; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA., Liu B; Department of Biology, School of Humanities and Sciences, Stanford University, Stanford, CA, USA., Prybol CJ; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA., Kohler JN; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Zastrow DB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Reuter CM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Fisk DG; Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA., Grove ME; Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA., Davidson JM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Joshi R; Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA., Strober BJ; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Utiramerur S; Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA., Lind L; Department of Medical Sciences, Cardiovascular Epidemiology, Uppsala University, Uppsala, Sweden., Ingelsson E; Stanford Cardiovascular Institute, School of Medicine, Stanford University, Stanford, CA, USA.; Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA., Battle A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Bejerano G; Department of Computer Science, Stanford University, Stanford, CA, USA.; Department of Pediatrics, School of Medicine, Stanford University, Stanford, CA, USA.; Department of Developmental Biology, School of Medicine, Stanford University, Stanford, CA, USA.; Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA, USA., Bernstein JA; Department of Pediatrics, School of Medicine, Stanford University, Stanford, CA, USA., Ashley EA; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA.; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Merker JD; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA.; Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA.; Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School Medicine, Chapel Hill, NC, USA., Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Stanford Cardiovascular Institute, School of Medicine, Stanford University, Stanford, CA, USA., Montgomery SB; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA. smontgom@stanford.edu.; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA. smontgom@stanford.edu.
Publikováno v:
Nature medicine [Nat Med] 2019 Jun; Vol. 25 (6), pp. 911-919. Date of Electronic Publication: 2019 Jun 03.