Publications by authors named "Marc S Williams"

100Publications

Genetic testing and employer-sponsored wellness programs: An overview of current vendors, products, and practices.

Mol Genet Genomic Med 2020 Jul 26:e1414. Epub 2020 Jul 26.

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

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http://dx.doi.org/10.1002/mgg3.1414DOI Listing
July 2020

PPARGC1B Is Associated with Nontraumatic Osteonecrosis of the Femoral Head: A Genomewide Association Study on a Chart-Reviewed Cohort.

J Bone Joint Surg Am 2020 Sep;102(18):1628-1636

Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.

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http://dx.doi.org/10.2106/JBJS.19.01335DOI Listing
September 2020

Management of Secondary Genomic Findings.

Am J Hum Genet 2020 Jul;107(1):3-14

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332641PMC
July 2020

Exome-Wide Analysis of the DiscovEHR Cohort Reveals Novel Candidate Pharmacogenomic Variants for Clinical Pharmacogenomics.

Genes (Basel) 2020 May 18;11(5). Epub 2020 May 18.

Department of Pharmacy, School of Health Sciences, University of Patras, GR 26504 Patras, Greece.

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http://dx.doi.org/10.3390/genes11050561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7290308PMC
May 2020

Administrative codes inaccurately identify recurrent venous thromboembolism: The CVRN VTE study.

Thromb Res 2020 05 5;189:112-118. Epub 2020 Mar 5.

University of California, San Francisco, 533 Parnassus Ave., Box 0131, room U135, San Francisco, CA 94143, United States of America.. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2020.02.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335977PMC
May 2020

Healthcare Utilization and Costs after Receiving a Positive Result from a Genomic Screening Program.

J Pers Med 2020 Feb 3;10(1). Epub 2020 Feb 3.

Department of Health Policy and Behavioral Science, School of Public Health, Georgia State University, Atlanta, GA 30302, USA.

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http://dx.doi.org/10.3390/jpm10010007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7151600PMC
February 2020

Genomic Medicine Year in Review: 2019.

Am J Hum Genet 2019 12 5;105(6):1072-1075. Epub 2019 Dec 5.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ajhg.2019.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202138PMC
December 2019

Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals.

BMC Health Serv Res 2019 Nov 25;19(1):844. Epub 2019 Nov 25.

School of Interdisciplinary Informatics, University of Nebraska at Omaha, 1110 S 67TH St., Omaha, 68182, NE, USA.

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http://dx.doi.org/10.1186/s12913-019-4679-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6876107PMC
November 2019

Copy Number Is Not Associated With Risk of Kidney Failure in a Large Cohort.

Front Genet 2019 30;10:765. Epub 2019 Aug 30.

Genomic Medicine Institute, Geisinger, Danville, PA, United States.

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http://dx.doi.org/10.3389/fgene.2019.00765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6728412PMC
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

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

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

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

BMC Med 2019 07 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 CVRN VTE Study.

Am J Med 2019 12 25;132(12):1450-1457.e1. Epub 2019 Jun 25.

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

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http://dx.doi.org/10.1016/j.amjmed.2019.05.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917856PMC
December 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

Early Lessons from the Implementation of Genomic Medicine Programs.

Authors:
Marc S Williams

Annu Rev Genomics Hum Genet 2019 08 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

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

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

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

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

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

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

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

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

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

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
Publisher Site
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