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Genetics

D-Index
65
Citations
35095
World Ranking
2651
National Ranking
1168

Overview

Jonathan S. Berg is affiliated with the University of North Carolina at Chapel Hill in the United States. Their research primarily spans the fields of Biochemistry, Genetics, and Molecular Biology, with significant contributions to Medicine. Within these broad fields, their work focuses on subfields such as Genetics, Molecular Biology, Cancer Research, Public Health, Environmental and Occupational Health, and Pediatrics, Perinatology and Child Health.

The main topics addressed in their research include Genomics and Rare Diseases, BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Ethics in Clinical Research, Prenatal Screening and Diagnostics, and Genetic factors in colorectal cancer.

Jonathan S. Berg has published extensively, with frequent contributions to venues such as UNC Libraries, Genetics in Medicine, Genetics in Medicine Open, bioRxiv (Cold Spring Harbor Laboratory), and The American Journal of Human Genetics.

Recent notable papers include:

  • Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria, 2022, The American Journal of Human Genetics
  • Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup, 2023, The American Journal of Human Genetics
  • The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources, 2022, Genetics in Medicine
  • Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project, 2020, The American Journal of Human Genetics
  • An approach to integrating exome sequencing for fetal structural anomalies into clinical practice, 2020, Genetics in Medicine

Frequent co-authors include Heidi L. Rehm, Julianne O'Daniel, Bradford C. Powell, Ann Katherine M. Foreman, and Laura V. Milko. These collaborations have resulted in multiple joint publications, highlighting ongoing research partnerships.

Best Publications

  • Comprehensive molecular portraits of human breast tumours

    Daniel C. Koboldt;Robert S. Fulton;Michael D. McLellan;Heather Schmidt

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

    Robert C. Green;Robert C. Green;Jonathan S. Berg;Wayne W. Grody;Sarah S. Kalia

  • Dnmt3a is essential for hematopoietic stem cell differentiation.

    Grant A. Challen;Deqiang Sun;Mira Jeong;Min Luo

  • ClinGen — The Clinical Genome Resource

    Heidi L. Rehm;Jonathan S. Berg;Lisa D. Brooks;Carlos D. Bustamante

  • A millennial myosin census.

    Jonathan S. Berg;Bradford C. Powell;Richard E. Cheney

  • ACMG clinical laboratory standards for next-generation sequencing.

    Heidi L. Rehm;Sherri J. Bale;Pinar Bayrak-Toydemir;Jonathan S. Berg

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

    Jeffrey R. Botkin;John W. Belmont;Jonathan Sanford Berg;Benjamin E. Berkman

  • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

    Nicola Brunetti-Pierri;Jonathan S. Berg;Fernando Scaglia;John Belmont

  • Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

    Laura M. Amendola;Gail P. Jarvik;Michael C. Leo;Heather M. McLaughlin

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

    Jonathan Sanford Berg;Muin J. Khoury;James P Evans

  • Myosin-X is an unconventional myosin that undergoes intrafilopodial motility

    Jonathan S. Berg;Richard E. Cheney

  • Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

    Natasha T. Strande;Erin Rooney Riggs;Adam H. Buchanan;Ozge Ceyhan-Birsoy

  • Myosin-X provides a motor-based link between integrins and the cytoskeleton

    Hongquan Zhang;Jonathan S Berg;Zhilun Li;Yunling Wang

  • Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

    Gail P. Jarvik;Laura M. Amendola;Jonathan S. Berg

  • Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.

    Sarah E. Brnich;Ahmad N. Abou Tayoun;Fergus J. Couch;Garry R. Cutting

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

    Laura M. Amendola;Michael O. Dorschner;Peggy D. Robertson;Joseph S. Salama

  • Dnmt3a and Dnmt3b have overlapping and distinct functions in hematopoietic stem cells

    Grant A. Challen;Deqiang Sun;Allison Mayle;Mira Jeong

  • Myosin-X, a novel myosin with pleckstrin homology domains, associates with regions of dynamic actin

    Jonathan S. Berg;Bruce H. Derfler;Christopher M. Pennisi;David P. Corey

  • Myosin X is a downstream effector of PI(3)K during phagocytosis

    Dianne Cox;Jonathan S. Berg;Michael Cammer;John O. Chinegwundoh

  • Erratum: Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents (The American Journal of Human Genetics (2015) 97 (6-21))

    Jeffrey R. Botkin;John W. Belmont;Jonathan S. Berg;Benjamin E. Berkman

Frequent Co-Authors

Heidi L. Rehm
Heidi L. Rehm Brigham and Women's Hospital
Kirk C. Wilhelmsen
Kirk C. Wilhelmsen University of North Carolina at Chapel Hill
Christine Rini
Christine Rini Northwestern University
Robert C. Green
Robert C. Green Brigham and Women's Hospital
Sharon E. Plon
Sharon E. Plon Baylor College of Medicine
Gail P. Jarvik
Gail P. Jarvik University of Washington
Leslie G. Biesecker
Leslie G. Biesecker National Institutes of Health
Benjamin S. Wilfond
Benjamin S. Wilfond University of Washington
Megan A. Lewis
Megan A. Lewis RTI International
Donald B. Bailey
Donald B. Bailey Research Triangle Park Foundation

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