Publications by authors named "Jonathan S Berg"

100Publications

Development and validation of a measure of comprehension of genomic screening-negative results (CoG-NR).

Eur J Hum Genet 2020 Oct 26;28(10):1394-1402. Epub 2020 May 26.

University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1038/s41431-020-0657-1DOI Listing
October 2020

Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support.

Matern Child Health J 2020 Jul;24(7):856-864

Center for Communication Science, RTI International, 3040 E. Cornwallis Road, Research Triangle Park, NC, 27709-2194, USA.

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http://dx.doi.org/10.1007/s10995-020-02953-zDOI Listing
July 2020

Assessing the implications of positive genomic screening results.

Per Med 2020 03 3;17(2):101-109. Epub 2020 Mar 3.

Department of Social Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27516, USA.

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http://dx.doi.org/10.2217/pme-2019-0067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7147673PMC
March 2020

Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.

J Genet Couns 2020 Jan 22. Epub 2020 Jan 22.

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/jgc4.1219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7374021PMC
January 2020

Parents' perceptions of personal utility of exome sequencing results.

Genet Med 2020 04 20;22(4):752-757. Epub 2019 Dec 20.

FPG Child Development Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1038/s41436-019-0730-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7192542PMC
April 2020

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Med 2019 11 29;11(1):77. Epub 2019 Nov 29.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1186/s13073-019-0683-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884856PMC
November 2019

The progression of the ClinGen gene clinical validity classification over time.

Hum Mutat 2018 11;39(11):1494-1504

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/humu.23604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6190678PMC
November 2018

Too much of a good thing? Overdiagnosis, or overestimating risk in preventive genomic screening.

Per Med 2018 09 27;15(5):343-346. Epub 2018 Sep 27.

Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599-7264, USA.

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https://www.futuremedicine.com/doi/10.2217/pme-2018-0041
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http://dx.doi.org/10.2217/pme-2018-0041DOI Listing
September 2018

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.

Hum Mutat 2018 11 5;39(11):1531-1541. Epub 2018 Sep 5.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1002/humu.23609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6548460PMC
November 2018

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.

Genet Med 2018 09 10;20(9):918-926. Epub 2018 Jul 10.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/s41436-018-0100-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679919PMC
September 2018

Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease.

Am J Psychiatry 2018 05;175(5):400-407

From the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Department of Neurology, Geisinger Health System, Wilkes-Barre, Pa.; Translational Neuroscience, Conshohocken, Pa.; the Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston; the Department of Pathology and Laboratory Medicine and the Department of Psychiatry, University of British Columbia, Vancouver; and the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm.

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http://dx.doi.org/10.1176/appi.ajp.2017.17060638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5935124PMC
May 2018

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Neurol Genet 2018 Feb 1;4(1):e212. Epub 2018 Feb 1.

Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.

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http://dx.doi.org/10.1212/NXG.0000000000000212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798313PMC
February 2018

Genetic screening: birthright or earned with age?

Expert Rev Mol Diagn 2017 08 29;17(8):735-738. Epub 2017 Jun 29.

a Department of Genetics , University of North Carolina at Chapel Hill , Chapel Hill , NC , USA.

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http://dx.doi.org/10.1080/14737159.2017.1346473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086349PMC
August 2017

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.

Circ Cardiovasc Genet 2017 Jun;10(3)

From the Department of Pathology, Duke University, Durham, NC (G.T.H.); Division of Cardiology (B.C.J.), McAllister Heart Institute (B.C.J., L.A.S., W.H., J.L.), Department of Cell and Molecular Physiology (L.A.S., W.H., J.L.), Department of Genetics (D.M., C.S., C.T., B.A.S., E.A.R.-M., B.K., K.C.W., K.E.W., J.P.E., J.S.B.), Department of Pathology and Laboratory Medicine (J.L., K.E.W.), UNC School of Medicine, Chapel Hill; Renaissance Computing Institute, Chapel Hill, NC (K.C.W.); and ECU Heart Institute, Brody School of Medicine, Greenville, NC (H.A.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5497793PMC
June 2017

Finding the Rare Pathogenic Variants in a Human Genome.

JAMA 2017 05;317(18):1904-1905

Department of Genetics, University of North Carolina at Chapel Hill.

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http://dx.doi.org/10.1001/jama.2017.0432DOI Listing
May 2017

A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics research.

Genome Med 2016 Sep 21;8(1):95. Epub 2016 Sep 21.

Department of Genetics, CB # 7264, University of North Carolina, Chapel Hill, NC, 27599, USA.

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http://genomemedicine.biomedcentral.com/articles/10.1186/s13
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http://dx.doi.org/10.1186/s13073-016-0351-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031300PMC
September 2016

Exploring the importance of case-level clinical information for variant interpretation.

Authors:
Jonathan S Berg

Genet Med 2017 01 25;19(1):3-5. Epub 2016 Aug 25.

Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2016.106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225022PMC
January 2017

Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.

Annu Rev Genomics Hum Genet 2016 08 26;17:303-32. Epub 2016 May 26.

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599; email: ,

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http://dx.doi.org/10.1146/annurev-genom-083115-022348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251520PMC
August 2016

Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice.

Curr Genet Med Rep 2015;3(4):166-176. Epub 2015 Aug 25.

Department of Genetics, The University of North Carolina at Chapel Hill, 120 Mason Farm Road, Chapel Hill, NC 27599-7264 USA.

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http://link.springer.com/10.1007/s40142-015-0075-9
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http://dx.doi.org/10.1007/s40142-015-0075-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633435PMC
August 2015

The promise and peril of genomic screening in the general population.

Genet Med 2016 06 5;18(6):593-9. Epub 2015 Nov 5.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2015.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860183PMC
June 2016

Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening.

Cold Spring Harb Perspect Med 2015 Oct 5;5(12). Epub 2015 Oct 5.

Departments of Pediatrics and Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599-7264.

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http://dx.doi.org/10.1101/cshperspect.a023150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4665041PMC
October 2015

ClinGen--the Clinical Genome Resource.

N Engl J Med 2015 06 27;372(23):2235-42. Epub 2015 May 27.

From Harvard Medical School and Brigham and Women's Hospital and Partners HealthCare - all in Boston (H.L.R.); University of North Carolina, Chapel Hill (J.S.B., J.P.E.); National Human Genome Research Institute, National Institutes of Health (NIH) (L.D.B., E.M.R.), National Center for Biotechnology Information, National Library of Medicine, NIH (M.J.L., D.R.M., S.T.S.), and American College of Medical Genetics and Genomics (M.S.W.) - all in Bethesda, MD; Stanford University School of Medicine, Stanford (C.D.B.), and University of California, San Francisco, San Francisco (R.L.N.) - both in California; Geisinger Health System, Danville, PA (D.H.L., C.L.M.); and Baylor College of Medicine, Houston (S.E.P.).

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http://dx.doi.org/10.1056/NEJMsr1406261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474187PMC
June 2015

Look before you leap: genomic screening in obstetrics and gynecology.

Obstet Gynecol 2015 Jun;125(6):1299-305

Department of Genetics and the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and the Department of Obstetrics, Gynecology, and Surgery, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1097/AOG.0000000000000871DOI Listing
June 2015

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

Am J Ophthalmol 2015 Aug 22;160(2):354-363.e9. Epub 2015 Apr 22.

Department of Ophthalmology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1016/j.ajo.2015.04.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506879PMC
August 2015

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Res 2015 Mar 30;25(3):305-15. Epub 2015 Jan 30.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

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http://dx.doi.org/10.1101/gr.183483.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352885PMC
March 2015

Erratum to: How can psychological science inform research about genetic counseling for clinical genomic sequencing?

J Genet Couns 2015 Apr;24(2):372

Department of Health Behavior, University of North Carolina-Chapel Hill, 312 Rosenau Hall, CB#7440, Chapel Hill, NC, 27599-7440, USA,

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http://dx.doi.org/10.1007/s10897-014-9814-4DOI Listing
April 2015

How can psychological science inform research about genetic counseling for clinical genomic sequencing?

J Genet Couns 2015 Apr 9;24(2):193-204. Epub 2014 Dec 9.

Department of Health Behavior, University of North Carolina-Chapel Hill, 312 Rosenau Hall, CB#7440, Chapel Hill, NC, 27599-7440, USA,

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http://link.springer.com/10.1007/s10897-014-9804-6
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http://dx.doi.org/10.1007/s10897-014-9804-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4777349PMC
April 2015

Genome-scale sequencing in clinical care: establishing molecular diagnoses and measuring value.

Authors:
Jonathan S Berg

JAMA 2014 Nov;312(18):1865-7

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill.

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http://dx.doi.org/10.1001/jama.2014.14665DOI Listing
November 2014

Genomic screening of the general adult population: key concepts for assessing net benefit with systematic evidence reviews.

Genet Med 2015 Jun 18;17(6):441-3. Epub 2014 Sep 18.

1] Center for Genomics and Society, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [2] Department of Social Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2014.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4387105PMC
June 2015

Long-term risk of medical conditions associated with breast cancer treatment.

Breast Cancer Res Treat 2014 May 3;145(1):233-43. Epub 2014 Apr 3.

Department of Internal Medicine and Cancer Research and Treatment Center, University of New Mexico, MSC 10-5550, Albuquerque, NM, 87131-0001, USA,

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http://dx.doi.org/10.1007/s10549-014-2928-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096572PMC
May 2014

Crowdsourcing to define the clinical actionability of incidental findings of genetic testing.

N C Med J 2013 Nov-Dec;74(6):501-2

Corresponding author: Jonathan S. Berg, Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

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January 2014

Genetics and heart failure: a concise guide for the clinician.

Curr Cardiol Rev 2015 ;11(1):10-7

UNC Division of Cardiology, 160 Dental Circle, CB 7075, Chapel Hill, NC 27599-7075, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4347203PMC
http://dx.doi.org/10.2174/1573403x09666131117170446DOI Listing
May 2015

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.

Genet Med 2013 Nov 24;15(11):860-7. Epub 2013 Oct 24.

1] Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [2] Carolina Center for Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [3] Center for Genomics and Society, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [4] Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2013.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935342PMC
November 2013

ACMG clinical laboratory standards for next-generation sequencing.

Genet Med 2013 Sep 25;15(9):733-47. Epub 2013 Jul 25.

Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Boston, Massachusetts, USA.

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https://www.acmg.net/docs/ACMG_Lab_Standards_Next_Generation
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http://www.nature.com/doifinder/10.1038/gim.2013.92
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http://dx.doi.org/10.1038/gim.2013.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098820PMC
September 2013

Response to Lindor et al.

Authors:
Jonathan S Berg

Genet Med 2013 May;15(5):409-10

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http://dx.doi.org/10.1038/gim.2013.25DOI Listing
May 2013

We screen newborns, don't we?: realizing the promise of public health genomics.

Genet Med 2013 May 7;15(5):332-4. Epub 2013 Mar 7.

Department of Genetics, University of North Carolina at Chapel Hill, NC, USA.

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http://dx.doi.org/10.1038/gim.2013.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789099PMC
May 2013

An informatics approach to analyzing the incidentalome.

Genet Med 2013 Jan 20;15(1):36-44. Epub 2012 Sep 20.

Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2012.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538953PMC
January 2013

Next-generation DNA sequencing, regulation, and the limits of paternalism: the next challenge.

JAMA 2011 Dec;306(21):2376-7

Department of Genetics, University of North Carolina at Chapel Hill, CB# 7264, Chapel Hill, NC 27599-7264, USA.

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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.2011.1788DOI Listing
December 2011