Marc S Williams

Marc S Williams

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Early Lessons from the Implementation of Genomic Medicine Programs.

Authors:
Marc S Williams

Annu Rev Genomics Hum Genet 2019 Aug 27;20:389-411. Epub 2019 Feb 27.

Genomic Medicine Institute, Geisinger, Danville, Pennsylvania 17822-2620, USA; email:

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http://dx.doi.org/10.1146/annurev-genom-083118-014924DOI Listing
August 2019

Pharmacogenomics.

Lancet 2019 08 5;394(10197):521-532. Epub 2019 Aug 5.

Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.

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http://dx.doi.org/10.1016/S0140-6736(19)31276-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707519PMC
August 2019

Genomic medicine for undiagnosed diseases.

Lancet 2019 Aug 5;394(10197):533-540. Epub 2019 Aug 5.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/S0140-6736(19)31274-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6709871PMC
August 2019

Building evidence and measuring clinical outcomes for genomic medicine.

Lancet 2019 Aug 5;394(10198):604-610. Epub 2019 Aug 5.

Genomic Medicine Institute, Geisinger, Danville, PA, USA.

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http://dx.doi.org/10.1016/S0140-6736(19)31278-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6730663PMC
August 2019

Is immunohistochemistry-based screening for Lynch syndrome in endometrial cancer effective? The consent's the thing.

Gynecol Oncol 2019 07 23;154(1):131-137. Epub 2019 May 23.

Geisinger Health System, Danville, PA, United States of America; Genomic Medicine Institute, Geisinger Health System, 100 N Academy Dr., Mail Stop 26-20, Danville, PA 17822-2620. Electronic address:

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http://dx.doi.org/10.1016/j.ygyno.2019.05.006DOI Listing
July 2019

Beyond the hype of big data and artificial intelligence: building foundations for knowledge and wisdom.

BMC Med 2019 Jul 17;17(1):143. Epub 2019 Jul 17.

Genomic Medicine Institute, Geisinger, 100 North Academy Avenue, Danville, PA, 17822, USA.

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http://dx.doi.org/10.1186/s12916-019-1382-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636050PMC
July 2019

Treatment and Outcomes of Acute Pulmonary Embolism and Deep Venous Thrombosis: The Cardiovascular Research Network Venous Thromboembolism (CVRN VTE) Study.

Am J Med 2019 Jun 24. Epub 2019 Jun 24.

Division of Research, Kaiser Permanente Northern California Oakland, CA; Departments of Epidemiology, Biostatistics and Medicine, University of California, San Francisco, San Francisco, CA; Departments of Medicine, Health Research and Policy, Stanford University School of Medicine Palo Alto, CA.

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http://dx.doi.org/10.1016/j.amjmed.2019.05.040DOI Listing
June 2019

Developing a genetic services assessment tool to inform quality improvement efforts in state genetic service delivery.

Genet Med 2019 04 14;21(4):955-964. Epub 2018 Sep 14.

Department of Genetic Counseling, University of Arkansas, Little Rock, Arkansas, USA.

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http://dx.doi.org/10.1038/s41436-018-0141-2DOI Listing
April 2019

Key Implications of Data Sharing in Pediatric Genomics.

JAMA Pediatr 2018 05;172(5):476-481

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1001/jamapediatrics.2017.5500DOI Listing
May 2018

Prototype of a Standards-Based EHR and Genetic Test Reporting Tool Coupled with HL7-Compliant Infobuttons.

AMIA Jt Summits Transl Sci Proc 2018 18;2017:330-339. Epub 2018 May 18.

Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5961781PMC
May 2018

A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system.

Genet Med 2018 Apr 10;20(4):390-396. Epub 2017 Aug 10.

Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1038/gim.2017.122DOI Listing
April 2018

Adding Protective Genetic Variants to Clinical Reporting of Genomic Screening Results: Restoring Balance.

JAMA 2017 04;317(15):1527-1528

Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania.

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http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.20
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http://dx.doi.org/10.1001/jama.2017.1533DOI Listing
April 2017

User-centered design of multi-gene sequencing panel reports for clinicians.

J Biomed Inform 2016 10 14;63:1-10. Epub 2016 Jul 14.

Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, United States; Division of Health Sciences Informatics, Johns Hopkins University School of Medicine, United States; Division of General Internal Medicine, Johns Hopkins University School of Medicine, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jbi.2016.07.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5106875PMC
October 2016

Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.

Appl Clin Inform 2016 09 21;7(3):870-82. Epub 2016 Sep 21.

Luke Rasmussen, Division of Health and Biomedical Informatics, Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, 750 North Lake Shore Drive, 11th Floor, Rubloff Building, Chicago, IL 60611, Phone: 312-503-2823.

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http://dx.doi.org/10.4338/ACI-2016-04-RA-0060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052555PMC
September 2016

A GWAS Study on Liver Function Test Using eMERGE Network Participants.

PLoS One 2015 28;10(9):e0138677. Epub 2015 Sep 28.

Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, OH, United States of America; University of Cincinnati, College of Medicine, Cincinnati, OH, United States of America; U.S. Department of Veterans Affairs Medical Center, Cincinnati, OH, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0138677PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4586138PMC
June 2016

The genomic CDS sandbox: An assessment among domain experts.

J Biomed Inform 2016 Apr 15;60:84-94. Epub 2016 Jan 15.

Medical University of South Carolina, Charleston, SC, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jbi.2015.12.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4948866PMC
April 2016

CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.

J Am Med Inform Assoc 2015 Nov 3;22(6):1231-42. Epub 2015 Jul 3.

Genome Medicine Institute, Geisinger Medical Center, Danville, PA, USA Department of Medicine, Program for Personalized and Genomic Medicine and Center for Health-Related Informatics and Bioimaging, University of Maryland School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1093/jamia/ocv065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5009914PMC
November 2015

Interdisciplinary training to build an informatics workforce for precision medicine.

Appl Transl Genom 2015 Sep 4;6:28-30. Epub 2015 Aug 4.

Department of Biomedical Informatics, The Ohio State University, Columbus, OH, USA.

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http://dx.doi.org/10.1016/j.atg.2015.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803783PMC
September 2015

35(th) Annual David W Smith Workshop on Malformations and Morphogenesis: abstracts of the 2014 annual meeting.

Am J Med Genet A 2015 Aug 22;167A(8):1685-740. Epub 2015 May 22.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37107DOI Listing
August 2015

Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing.

JIMD Rep 2015 3;22:95-8. Epub 2015 Mar 3.

Genomic Medicine Institute, Geisinger Health System, 100 N Academy Dr. Mail Stop 26-20, Danville, PA, 17822-2620, USA.

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http://link.springer.com/10.1007/8904_2015_416
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http://dx.doi.org/10.1007/8904_2015_416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486277PMC
July 2015

Economic evaluation of pharmacogenomics: a value-based approach to pragmatic decision making in the face of complexity.

Public Health Genomics 2014 26;17(5-6):256-64. Epub 2014 Sep 26.

Geisinger Center for Health Research, Geisinger Medical Center, Danville, Pa., USA.

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http://dx.doi.org/10.1159/000366177DOI Listing
June 2015

Is the genomic translational pipeline being disrupted?

Authors:
Marc S Williams

Hum Genomics 2015 Jun 14;9. Epub 2015 Jun 14.

Genomic Medicine Institute, Geisinger Health System, 100 N Academy Dr., Danville, PA, 17822-2620, USA.

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http://dx.doi.org/10.1186/s40246-015-0032-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466858PMC
June 2015

Perspectives on what is needed to implement genomic medicine.

Authors:
Marc S Williams

Mol Genet Genomic Med 2015 May;3(3):155-9

Genomic Medicine Institute, Geisinger Health System 100 N Academy Ave. Mail Stop 26-20, Danville, Pennsylvania.

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http://dx.doi.org/10.1002/mgg3.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444156PMC
May 2015

Evidence synthesis and guideline development in genomic medicine: current status and future prospects.

Genet Med 2015 Jan 19;17(1):63-7. Epub 2014 Jun 19.

1] Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland, USA [2] Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1038/gim.2014.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272332PMC
January 2015

An assessment of time involved in pre-test case review and counseling for a whole genome sequencing clinical research program.

J Genet Couns 2014 Aug 27;23(4):516-21. Epub 2014 Feb 27.

Genomic Medicine Institute, Geisinger Health System, 100 N Academy Ave., Danville, PA, 17822, USA,

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http://dx.doi.org/10.1007/s10897-014-9697-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090811PMC
August 2014

Telehealth personalized cancer risk communication to motivate colonoscopy in relatives of patients with colorectal cancer: the family CARE Randomized controlled trial.

J Clin Oncol 2014 Mar 21;32(7):654-62. Epub 2014 Jan 21.

Anita Y. Kinney, Antoinette M. Stroup, Sandra L. Edwards, Kenneth M. Boucher, and Randall W. Burt, School of Medicine, University of Utah; Anita Y. Kinney, Lisa M. Pappas, Antoinette M. Stroup, Sandra L. Edwards, Amy Rogers, Wendy K. Kohlmann, Kenneth M. Boucher, Rebecca G. Simmons, and Randall W. Burt, Huntsman Cancer Institute, University of Utah; Marc S. Williams, Intermountain Healthcare, Salt Lake City, UT; Watcharaporn Boonyasiriwat, Chulalongkom University, Bangkok, Thailand; Scott T. Walters, School of Public Health, University of North Texas Health Science Center at Fort Worth, Fort Worth; Sally W. Vernon, The University of Texas School of Public Health, Houston, TX; Marc D. Schwartz, Georgetown University; Marc D. Schwartz, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC; Jan T. Lowery, Colorado School of Public Health, University of Colorado, Denver, CO; Kristina Flores, University of New Mexico Cancer Center; Anita Y. Kinney, Charles L. Wiggins, and Deirdre A. Hill, University of New Mexico Cancer Center and School of Medicine, Albuquerque, NM; Marc S. Williams, Genomic Medicine Institute, Geisinger Health System, Danville, PA; John C. Higginbotham, Community and Rural Medicine Institute for Rural Health Research, College of Community Health Sciences, University of Alabama, Tuscaloosa, AL.

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http://ascopubs.org/doi/10.1200/JCO.2013.51.6765
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http://dx.doi.org/10.1200/JCO.2013.51.6765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927734PMC
March 2014

Genomic medicine implementation: learning by example.

Authors:
Marc S Williams

Am J Med Genet C Semin Med Genet 2014 Mar 10;166C(1):8-14. Epub 2014 Mar 10.

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http://dx.doi.org/10.1002/ajmg.c.31394DOI Listing
March 2014

Implementation of genomic medicine in a health care delivery system: a value proposition?

Am J Med Genet C Semin Med Genet 2014 Mar 11;166C(1):112-6. Epub 2014 Mar 11.

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http://doi.wiley.com/10.1002/ajmg.c.31392
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http://dx.doi.org/10.1002/ajmg.c.31392DOI Listing
March 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.

Front Genet 2014 12;5:16. Epub 2014 Feb 12.

Division of Rheumatology, Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati OH, USA ; Department of Veterans Affairs, Veterans Affairs Medical Center - Cincinnati, Cincinnati OH, USA.

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http://dx.doi.org/10.3389/fgene.2014.00016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921572PMC
February 2014

Ethical, legal, and social implications of incorporating genomic information into electronic health records.

Genet Med 2013 Oct 12;15(10):810-6. Epub 2013 Sep 12.

Department of Internal Medicine, Wayne State University School of Medicine, Detroit, Michigan, USA.

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http://dx.doi.org/10.1038/gim.2013.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3926430PMC
October 2013

Opportunities for genomic clinical decision support interventions.

Genet Med 2013 Oct 19;15(10):817-23. Epub 2013 Sep 19.

1] Department of Biomedical Informatics, Columbia University, New York, New York, USA [2] Program for Personalized & Genomic Medicine and Center for Health-Related Informatics and Bioimaging, University of Maryland School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2013.128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3858176PMC
October 2013

The undiscovered country: the future of integrating genomic information into the EHR.

Genet Med 2013 Oct 26;15(10):842-5. Epub 2013 Sep 26.

Mount Sinai Medical Center, New York, New York, USA.

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http://dx.doi.org/10.1038/gim.2013.130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259267PMC
October 2013

Integration of genomics into the electronic health record: mapping terra incognita.

Genet Med 2013 Oct;15(10):757-60

EMR Clinical Transformation Group, Mount Sinai Medical Center, New York, New York, USA.

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http://dx.doi.org/10.1038/gim.2013.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157459PMC
October 2013

Impact of age cutoffs on a lynch syndrome screening program.

J Oncol Pract 2013 Jul 13;9(4):175-9. Epub 2012 Nov 13.

Intermountain Healthcare, Salt Lake City, UT; and Geisinger Health System, Danville, PA.

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http://dx.doi.org/10.1200/JOP.2012.000573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710164PMC
July 2013