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2016
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Green, RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S., Blout CL, Bowling KM, Brothers KB, Burke W., Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K., Evans JP, et al. American journal of human genetics, 2016/05/12, (2016) Read More / View Supplemental Materials
Abstract
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Amendola, LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y., Amaral MD, Berg JS, Biswas S., Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R., Green RC, Hart R., Horton C., Johnston JJ, Lebo MS, et al. American journal of human genetics, 2016/05/11, (2016) Read More / View Supplemental Materials
Abstract
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.Blumenstiel, B., DeFelice M., Birsoy O., Bleyer AJ, Kmoch S., Carter TA, Gnirke A., Kidd K., Rehm HL, Ronco L., Lander E. S., Gabriel S., and Lennon NJ The Journal of molecular diagnostics : JMD, 2016/05/05, (2016) Read More / View Supplemental Materials
Abstract
Consent Codes: Upholding Standard Data Use Conditions.Dyke, SO, Philippakis AA, Rambla De Argila J., Paltoo DN, Luetkemeier ES, Knoppers BM, Brookes AJ, Spalding JD, Thompson M., Roos M., Boycott KM, Brudno M., Hurles M., Rehm HL, Matern A., Fiume M., and Sherry ST PLoS genetics, 2016/01/01, Volume 12, Issue 1, p.e1005772, (2016) Read More / View Supplemental Materials
Abstract
2015
Building the foundation for genomics in precision medicine.Aronson, SJ, and Rehm HL Nature, 2015/10/15, Volume 526, Issue 7573, p.336-42, (2015) Read More / View Supplemental Materials
Abstract
2014
Guidelines for investigating causality of sequence variants in human disease.Macarthur, DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J., Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly M. J., Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, et al. Nature, 2014/04/24, Volume 508, Issue 7497, p.469-76, (2014) Read More / View Supplemental Materials
Abstract
2012
Burden of rare sarcomere gene variants in the framingham and jackson heart study cohorts.Bick, AG, Flannick J., Ito K., Cheng S., Vasan RS, Parfenov MG, Herman DS, Depalma SR, Gupta N., Gabriel SB, Funke BH, Rehm HL, Benjamin EJ, Aragam J., Taylor HA Jr, Fox ER, Newton-Cheh C., Kathiresan S., O'Donnell CJ, Wilson JG, et al. American journal of human genetics, 2012/09/07, Volume 91, Issue 3, p.513-9, (2012) Read More / View Supplemental Materials
Abstract
  • Showing 1-7 of 7 Results