PMC Links for dbGaP (Select 1346596) - PMC

Select item 51019551.

First FDA Authorization for Next-Generation Sequencer

Francis S. Collins, Margaret A. Hamburg

N Engl J Med. 2013 Dec 19; 369(25): 2369–2371. Published online 2013 Nov 19. doi: 10.1056/NEJMp1314561

PMCID:: PMC5101955

Select item 44442252.

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

Samantha B. Foley, Jonathan J. Rios, Victoria E. Mgbemena, Linda S. Robinson, Heather L. Hampel, Amanda E. Toland, Leslie Durham, Theodora S. Ross

EBioMedicine. 2015 Jan; 2(1): 74–81. Published online 2014 Dec 3. doi: 10.1016/j.ebiom.2014.12.003

PMCID:: PMC4444225

Abstract Article PDF–627K

Select item 42837913.

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Carol Jean Saunders, Neil Andrew Miller, Sarah Elizabeth Soden, Darrell Lee Dinwiddie, Aaron Noll, Noor Abu Alnadi, Nevene Andraws, Melanie LeAnn Patterson, Lisa Ann Krivohlavek, Joel Fellis, Sean Humphray, Peter Saffrey, Zoya Kingsbury, Jacqueline Claire Weir, Jason Betley, Russell James Grocock, Elliott Harrison Margulies, Emily Gwendolyn Farrow, Michael Artman, Nicole Pauline Safina, Joshua Erin Petrikin, Kevin Peter Hall, Stephen Francis Kingsmore

Sci Transl Med. Author manuscript; available in PMC 2015 Jan 5.

Published in final edited form as: Sci Transl Med. 2012 Oct 3; 4(154): 154ra135. doi: 10.1126/scitranslmed.3004041

PMCID:: PMC4283791

Abstract Article PDF–771K

Select item 41575994.

Breast-Cancer Risk in Families with Mutations in PALB2

A.C. Antoniou, S. Casadei, T. Heikkinen, D. Barrowdale, K. Pylkäs, J. Roberts, A. Lee, D. Subramanian, K. De Leeneer, F. Fostira, E. Tomiak, S.L. Neuhausen, Z.L. Teo, S. Khan, K. Aittomäki, J.S. Moilanen, C. Turnbull, S. Seal, A. Mannermaa, A. Kallioniemi, G.J. Lindeman, S.S. Buys, I.L. Andrulis, P. Radice, C. Tondini, S. Manoukian, A.E. Toland, P. Miron, J.N. Weitzel, S.M. Domchek, B. Poppe, K.B.M. Claes, D. Yannoukakos, P. Concannon, J.L. Bernstein, P.A. James, D.F. Easton, D.E. Goldgar, J.L. Hopper, N. Rahman, P. Peterlongo, H. Nevanlinna, M.-C. King, F.J. Couch, M.C. Southey, R. Winqvist, W.D. Foulkes, M. Tischkowitz

N Engl J Med. Author manuscript; available in PMC 2015 Feb 7.

Published in final edited form as: N Engl J Med. 2014 Aug 7; 371(6): 497–506. doi: 10.1056/NEJMoa1400382

PMCID:: PMC4157599

Abstract Article PDF–245K

Select item 40679415.

Clinical Evaluation of a Multiple-Gene Sequencing Panel for Hereditary Cancer Risk Assessment

Allison W. Kurian, Emily E. Hare, Meredith A. Mills, Kerry E. Kingham, Lisa McPherson, Alice S. Whittemore, Valerie McGuire, Uri Ladabaum, Yuya Kobayashi, Stephen E. Lincoln, Michele Cargill, James M. Ford

J Clin Oncol. 2014 Jul 1; 32(19): 2001–2009. Published online 2014 Apr 14. doi: 10.1200/JCO.2013.53.6607

PMCID:: PMC4067941

Abstract Article PDF–187K

Select item 39929756.

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela M. Witten, Preti Jain, Brian J. O’Roak, Gregory M. Cooper, Jay Shendure

Nat Genet. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Nat Genet. 2014 Mar; 46(3): 310–315. Published online 2014 Feb 2. doi: 10.1038/ng.2892

PMCID:: PMC3992975

Abstract Article PDF–1.3M

Select item 38492507.

Analysis of Induced Pluripotent Stem Cells from a BRCA1 Mutant Family

Abigail A. Soyombo, Yipin Wu, Lauren Kolski, Jonathan J. Rios, Dinesh Rakheja, Alice Chen, James Kehler, Heather Hampel, Alanna Coughran, Theodora S. Ross

Stem Cell Reports. 2013 Oct 15; 1(4): 336–349. Published online 2013 Oct 3. doi: 10.1016/j.stemcr.2013.08.004

PMCID:: PMC3849250

Abstract Article PDF–3.3M

Select item 37912618.

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

Michael O. Dorschner, Laura M. Amendola, Emily H. Turner, Peggy D. Robertson, Brian H. Shirts, Carlos J. Gallego, Robin L. Bennett, Kelly L. Jones, Mari J. Tokita, James T. Bennett, Jerry H. Kim, Elisabeth A. Rosenthal, Daniel S. Kim, National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Holly K. Tabor, Michael J. Bamshad, Arno G. Motulsky, C. Ronald Scott, Colin C. Pritchard, Tom Walsh, Wylie Burke, Wendy H. Raskind, Peter Byers, Fuki M. Hisama, Deborah A. Nickerson, Gail P. Jarvik

Am J Hum Genet. 2013 Oct 3; 93(4): 631–640. doi: 10.1016/j.ajhg.2013.08.006

PMCID:: PMC3791261

Abstract Article PDF–160K

Select item 37908999.

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: Lessons from the ClinSeq™ project

Leslie G. Biesecker

Genet Med. Author manuscript; available in PMC 2013 Oct 4.

Published in final edited form as: Genet Med. 2012 Apr; 14(4): 393–398. Published online 2012 Feb 16. doi: 10.1038/gim.2011.78

PMCID:: PMC3790899

Abstract Article PDF–41K

Select item 372727410.

ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing

Robert C. Green, Jonathan S. Berg, Wayne W. Grody, Sarah S. Kalia, Bruce R. Korf, Christa L. Martin, Amy McGuire, Robert L. Nussbaum, Julianne M. O’Daniel, Kelly E. Ormond, Heidi L. Rehm, Michael S. Watson, Marc S. Williams, Leslie G. Biesecker

Genet Med. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Genet Med. 2013 Jul; 15(7): 565–574. Published online 2013 Jun 20. doi: 10.1038/gim.2013.73

PMCID:: PMC3727274

Abstract Article PDF–65K

Select item 368406111.

Genetic Risk Factors for Pancreatic Disorders

David C Whitcomb

Gastroenterology. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Gastroenterology. 2013 Jun; 144(6): 1292–1302. doi: 10.1053/j.gastro.2013.01.069

PMCID:: PMC3684061

Abstract Article PDF–1.0M

Select item 339725712.

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Jennifer J. Johnston, Wendy S. Rubinstein, Flavia M. Facio, David Ng, Larry N. Singh, Jamie K. Teer, James C. Mullikin, Leslie G. Biesecker

Am J Hum Genet. 2012 Jul 13; 91(1): 97–108. doi: 10.1016/j.ajhg.2012.05.021

PMCID:: PMC3397257

Abstract Article PDF–506K

Select item 331431113.

Whole-Genome Sequencing for Optimized Patient Management

Matthew N. Bainbridge, Wojciech Wiszniewski, David R. Murdock, Jennifer Friedman, Claudia Gonzaga-Jauregui, Irene Newsham, Jeffrey G. Reid, John K. Fink, Margaret B. Morgan, Marie-Claude Gingras, Donna M. Muzny, Linh D. Hoang, Shahed Yousaf, James R. Lupski, Richard A. Gibbs

Sci Transl Med. Author manuscript; available in PMC 2012 Mar 28.

Published in final edited form as: Sci Transl Med. 2011 Jun 15; 3(87): 87re3. doi: 10.1126/scitranslmed.3002243

PMCID:: PMC3314311

Abstract Article PDF–1.5M

Select item 295732314.

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

Jonathan Rios, Evan Stein, Jay Shendure, Helen H. Hobbs, Jonathan C. Cohen

Hum Mol Genet. 2010 Nov 15; 19(22): 4313–4318. Published online 2010 Aug 18. doi: 10.1093/hmg/ddq352

PMCID:: PMC2957323

Abstract Article PDF–220K

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