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Employment (1)

University of North Carolina at Chapel Hill School of Medicine: Chapel Hill, NC, US

2009-04 to present | Professor (Genetics)
Employment
Source: Self-asserted source
Jonathan S. Berg

Education and qualifications (2)

Baylor College of Medicine: Houston, TX, US

2003 to 2009 | Residency in Clinical Genetics (Genetics)
Education
Source: Self-asserted source
Jonathan S. Berg

University of North Carolina at Chapel Hill: Chapel Hill, NC, US

1994 to 2003 | MD, PhD
Education
Source: Self-asserted source
Jonathan S. Berg

Works (50 of 68)

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Page 1 of 2

How people undergoing genomic sequencing interpret and react to varied secondary findings with limited actionability

Personalized Medicine
2025-03-04 | Journal article
DOI: 10.1080/17410541.2025.2476392
Contributors: Haoyang Yan; Christine M. Rini; Ann Katherine M. Foreman; Jonathan S. Berg; Gail E. Henderson; Kristy Lee; Julianne M. O’Daniel; Myra Roche; Margaret Waltz
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Group-based medical mistrust in genomic medicine: Associations with patient and provider perceptions of a specialty clinical encounter

Genetics in Medicine
2024-12 | Journal article
DOI: 10.1016/j.gim.2024.101279
Contributors: Frank Angelo; Margaret Waltz; Haoyang Yan; Jonathan S. Berg; Ann Katherine M. Foreman; Julianne O’Daniel; Christine Rini
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Crossref

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

2024-11-20 | Preprint
DOI: 10.1101/2024.11.19.24317561
Contributors: Eleanor C Broeren; Vanessa N Gitau; Alicia B Byrne; Pamela Ajuyah; Marie B Balzotti; Jonathan S Berg; Krista Bluske; Beatrice Monica Bowen; Matthew P Brown; Amanda Buchanan et al.
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Correction: Foss et al. The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation. J. Pers. Med. 2022, 12, 692

Journal of Personalized Medicine
2024-02-22 | Journal article
DOI: 10.3390/jpm14030234
Contributors: Kimberly S. Foss; Julianne M. O’Daniel; Jonathan S. Berg; Sabrina N. Powell; Rosemary Jean Cadigan; Kristine J. Kuczynski; Laura V. Milko; Katherine W. Saylor; Megan Roberts; Karen Weck et al.
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Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation

International Journal of Neonatal Screening
2023-06-27 | Journal article
DOI: 10.3390/ijns9030036
Contributors: Laura V. Milko; Jonathan S. Berg
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The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation

Journal of Personalized Medicine
2022-04-26 | Journal article
DOI: 10.3390/jpm12050692
Contributors: Kimberly Foss; Julianne O’Daniel; Jonathan Berg; Sabrina Powell; Rosemary Cadigan; Kristine Kuczynski; Laura Milko; Katherine Saylor; Megan Roberts; Karen Weck et al.
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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

2022-01-03 | Preprint
DOI: 10.1101/2022.01.03.21268593
Contributors: Marina T. DiStefano; Scott Goehringer; Lawrence Babb; Fowzan S. Alkuraya; Joanna Amberger; Mutaz Amin; Christina Austin-Tse; Marie Balzotti; Jonathan S. Berg; Ewan Birney et al.
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Crossref

Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making

Genome Medicine
2021-12 | Journal article
DOI: 10.1186/s13073-021-00867-1
Contributors: Daniela M. DeCristo; Laura V. Milko; Julianne M. O’Daniel; Ann Katherine M. Foreman; Lonna F. Mollison; Bradford C. Powell; Cynthia M. Powell; Jonathan S. Berg
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Crossref

A Validated Functional Analysis of PALB2 (Partner and Localizer of BRCA2) Missense Variants for Use in Clinical Variant Interpretation

The Journal of Molecular Diagnostics
2021-05 | Journal article
DOI: 10.1016/j.jmoldx.2021.04.010
Contributors: Sarah E. Brnich; Eyla Cristina Arteaga; Yueting Wang; Xianming Tan; Jonathan S. Berg
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Crossref

A Validated Functional Analysis of PALB2 Missense Variants for Use in Clinical Variant Interpretation

2020-08-27 | Preprint
DOI: 10.1101/2020.08.27.270553
Contributors: Sarah E. Brnich; Eyla Cristina Arteaga; Yueting Wang; Xianming Tan; Jonathan S. Berg
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Crossref

Noninvasive prenatal exome sequencing inefficient for detecting single-gene disorders – problems and possible solutions

2020-08-07 | Other
DOI: 10.1101/2020.08.04.20168278
Contributors: Dayne L Filer; Piotr A Mieczkowski; Alicia Brandt; Kelly L Gilmore; Bradford C Powell; Jonathan S Berg; Kirk C Wilhelmsen; Neeta L Vora
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Crossref

Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders

Genetics in Medicine
2019-11-26 | Journal article
DOI: 10.1038/s41436-019-0524-z
Contributors: Ryan S. Paquin; Kathleen F. Mittendorf; Megan A. Lewis; Jessica Ezzell Hunter; Kristy Lee; Jonathan S. Berg; Marc S. Williams; Katrina A. B. Goddard
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Crossref

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation

2019-07-30 | Other
DOI: 10.1101/19001370
Contributors: Laura V. Milko; Flavia Chen; Kee Chan; Amy M. Brower; Pankaj B. Agrawal; Alan H. Beggs; Jonathan S. Berg; Steven E. Brenner; Ingrid A. Holm; Barbara A. Koenig et al.
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Crossref

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

2019-06-28 | Other
DOI: 10.1101/19000661
Contributors: Dona M. Kanavy; Shannon M. McNulty; Meera K. Jairath; Sarah E. Brnich; Chris Bizon; Bradford C. Powell; Jonathan S. Berg
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Crossref

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

2018-12-17 | Journal article
DOI: 10.1371/journal.pone.0209185
Part of ISSN: 1932-6203
Source: Self-asserted source
Jonathan S. Berg

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

Human Mutation
2018-11-05 | Journal article
DOI: 10.1002/humu.23609
Contributors: Sarah E. Brnich; Edgar A. Rivera‐Muñoz; Jonathan S. Berg
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Crossref

Identification of clonal hematopoiesis mutations in solid tumor patients undergoing unpaired next-generation sequencing assays

Clinical Cancer Research
2018-06-04 | Journal article
DOI: 10.1158/1078-0432.CCR-18-1201
Contributors: Catherine C. Coombs; Nancy K. Gillis; Xianming Tan; Jonathan S. Berg; Markus C Ball; Maria E. Balasis; Nathan D. Montgomery; Kelly Bolton; Joel S. Parker; Tania E. Mesa et al.
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Crossref

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

Genetics in Medicine
2017-07-12 | Journal article
DOI: 10.1038/gim.2016.198
Contributors: Patricia Himes; Tia L. Kauffman; Kristin R. Muessig; Laura M. Amendola; Jonathan S. Berg; Michael O. Dorschner; Marian Gilmore; Deborah A. Nickerson; Jacob A. Reiss; C. Sue Richards et al.
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Crossref

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Genetics in Medicine
2017-05-03 | Journal article
DOI: 10.1038/gim.2016.152
Contributors: Julianne M. O’Daniel; Heather M. McLaughlin; Laura M. Amendola; Sherri J. Bale; Jonathan S. Berg; David Bick; Kevin M. Bowling; Elizabeth C. Chao; Wendy K. Chung; Laura K. Conlin et al.
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Crossref

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

Genetics in Medicine
2017-01-25 | Journal article
DOI: 10.1038/gim.2016.106
Contributors: Jonathan S. Berg
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Crossref

The promise and peril of genomic screening in the general population

Genet Med
2015-11-05 | Journal article
DOI: 10.1038/gim.2015.136
Contributors: Michael C. Adams; James P. Evans; Gail E. Henderson; Jonathan S. Berg
Source: Self-asserted source
Jonathan S. Berg via Crossref Metadata Search
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Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening

Cold Spring Harb Perspect Med
2015-10-05 | Journal article
DOI: 10.1101/cshperspect.a023150
Contributors: Jonathan S. Berg; Cynthia M. Powell
Source: Self-asserted source
Jonathan S. Berg via Crossref Metadata Search

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

The American Journal of Human Genetics
2015-09 | Journal article
DOI: 10.1016/j.ajhg.2015.07.013
Contributors: Jeffrey R. Botkin; John W. Belmont; Jonathan S. Berg; Benjamin E. Berkman; Yvonne Bombard; Ingrid A. Holm; Howard P. Levy; Kelly E. Ormond; Howard M. Saal; Nancy B. Spinner et al.
Source: Self-asserted source
Jonathan S. Berg via Crossref Metadata Search

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

Genet Med
2015-08 | Journal article
DOI: 10.1038/gim.2015.104
Contributors: Jonathan S. Berg; Ann Katherine M. Foreman; Julianne M. O'Daniel; Jessica K. Booker; Lacey Boshe; Timothy Carey; Kristy R. Crooks; Brian C. Jensen; Eric T. Juengst; Kristy Lee et al.
Source: Self-asserted source
Jonathan S. Berg via Crossref Metadata Search
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High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

American Journal of Ophthalmology
2015-08 | Journal article
DOI: 10.1016/j.ajo.2015.04.026
Contributors: Kristy Lee; Jonathan S. Berg; Laura Milko; Kristy Crooks; Mei Lu; Chris Bizon; Phillips Owen; Kirk C. Wilhelmsen; Karen E. Weck; James P. Evans et al.
Source: Self-asserted source
Jonathan S. Berg via Crossref Metadata Search

Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice

Curr Genet Med Rep
2015-08 | Journal article
DOI: 10.1007/s40142-015-0075-9
Contributors: Myra I. Roche; Jonathan S. Berg
Source: Self-asserted source
Jonathan S. Berg via Crossref Metadata Search

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

The American Journal of Human Genetics
2015-07 | Journal article
DOI: 10.1016/j.ajhg.2015.05.022
Contributors: Jeffrey R. Botkin; John W. Belmont; Jonathan S. Berg; Benjamin E. Berkman; Yvonne Bombard; Ingrid A. Holm; Howard P. Levy; Kelly E. Ormond; Howard M. Saal; Nancy B. Spinner et al.
Source: Self-asserted source
Jonathan S. Berg via Crossref Metadata Search

Look Before You Leap

Obstetrics & Gynecology
2015-06 | Journal article
DOI: 10.1097/aog.0000000000000871
Contributors: Michael C. Adams; Jonathan S. Berg; Mark D. Pearlman; Neeta L. Vora
Source: Self-asserted source
Jonathan S. Berg via Crossref Metadata Search

ClinGen — The Clinical Genome Resource

N Engl J Med
2015-06-04 | Journal article
DOI: 10.1056/nejmsr1406261
Contributors: Heidi L. Rehm; Jonathan S. Berg; Lisa D. Brooks; Carlos D. Bustamante; James P. Evans; Melissa J. Landrum; David H. Ledbetter; Donna R. Maglott; Christa Lese Martin; Robert L. Nussbaum et al.
Source: Self-asserted source
Jonathan S. Berg via Crossref Metadata Search

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review

Am. J. Med. Genet.
2015-04 | Journal article
DOI: 10.1002/ajmg.a.37129
Contributors: Natario L. Couser; Maheer M. Masood; Natasha T. Strande; Ann Katherine M. Foreman; Kristy Crooks; Karen E. Weck; Mei Lu; Kirk C. Wilhelmsen; Myra Roche; James P. Evans et al.
Source: Self-asserted source
Jonathan S. Berg via Crossref Metadata Search

Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing

Genet Med
2015-01-08 | Journal article
DOI: 10.1038/gim.2014.189
Contributors: Deborah I. Ritter; Katherine Haines; Hannah Cheung; Caleb F. Davis; Ching C. Lau; Jonathan S. Berg; Chester W. Brown; Patrick A. Thompson; Richard Gibbs; David A. Wheeler et al.
Source: Self-asserted source
Jonathan S. Berg via Crossref Metadata Search

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

Journal article
PMID:

20186804
Source: Self-asserted source
Jonathan S. Berg

A microtubule-binding myosin required for nuclear anchoring and spindle assembly.

Journal article
PMID:

15372037
Source: Self-asserted source
Jonathan S. Berg

ACMG clinical laboratory standards for next-generation sequencing.

Journal article
PMID:

23887774
Source: Self-asserted source
Jonathan S. Berg

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Journal article
PMID:

23788249
Source: Self-asserted source
Jonathan S. Berg

An informatics approach to analyzing the incidentalome.

Journal article
PMID:

22995991
Source: Self-asserted source
Jonathan S. Berg

Characterizing genetic variants for clinical action.

Journal article
PMID:

24634402
Source: Self-asserted source
Jonathan S. Berg

Clinically relevant changes in family history of cancer over time.

Journal article
PMID:

21750294
Source: Self-asserted source
Jonathan S. Berg

Common recurrent microduplication syndromes: diagnosis and management in clinical practice.

Journal article
PMID:

20425813
Source: Self-asserted source
Jonathan S. Berg

Comprehensive molecular portraits of human breast tumours.

Journal article
PMID:

23000897
Source: Self-asserted source
Jonathan S. Berg

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Journal article
PMID:

21355048
Source: Self-asserted source
Jonathan S. Berg

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

Journal article
PMID:

24316777
Source: Self-asserted source
Jonathan S. Berg

Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time.

Journal article
PMID:

21558861
Source: Self-asserted source
Jonathan S. Berg

Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies.

Journal article
PMID:

23558254
Source: Self-asserted source
Jonathan S. Berg

Dnmt3a is essential for hematopoietic stem cell differentiation.

Journal article
PMID:

22138693
Source: Self-asserted source
Jonathan S. Berg

Ethical and legal implications of genetic testing in androgen insensitivity syndrome.

Journal article
PMID:

17382127
Source: Self-asserted source
Jonathan S. Berg

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

Journal article
PMID:

23261302
Source: Self-asserted source
Jonathan S. Berg

Exploring concordance and discordance for return of incidental findings from clinical sequencing.

Journal article
PMID:

22422049
Source: Self-asserted source
Jonathan S. Berg

Genetics and Heart Failure: A Concise Guide for the Clinician.

Journal article
PMID:

24251456
Source: Self-asserted source
Jonathan S. Berg

Imprinted genes that regulate early mammalian growth are coexpressed in somatic stem cells.

Journal article
PMID:

22039481
Source: Self-asserted source
Jonathan S. Berg
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