litlas
Log inCreate account

Jonathan S. Berg

Active 2000–2025

85
Papers
19,244
Citations
57
h-index
83
i10-index

Citations

Citations per year for Jonathan S. Berg1969: 1 citations1995: 1 citations1996: 2 citations1997: 2 citations1998: 2 citations1999: 1 citations2000: 2 citations2001: 15 citations2002: 40 citations2003: 36 citations2004: 49 citations2005: 54 citations2006: 52 citations2007: 59 citations2008: 72 citations2009: 92 citations2010: 88 citations2011: 84 citations2012: 82 citations2013: 207 citations2014: 186 citations2015: 227 citations2016: 267 citations2017: 250 citations2018: 270 citations2019: 673 citations2020: 651 citations2021: 625 citations2022: 510 citations2023: 368 citations2024: 677 citations2025: 336 citations2026: 11 citations1970–1994: no citations, so these years are not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 2,711 citing papers, 30.5% of this breakdownUnited Kingdom: 813 citing papers, 9.1% of this breakdownGermany: 495 citing papers, 5.6% of this breakdownCanada: 476 citing papers, 5.4% of this breakdownAustralia: 378 citing papers, 4.3% of this breakdownFrance: 357 citing papers, 4% of this breakdownNetherlands: 351 citing papers, 3.9% of this breakdownChina: 330 citing papers, 3.7% of this breakdownItaly: 304 citing papers, 3.4% of this breakdownSpain: 241 citing papers, 2.7% of this breakdownJapan: 169 citing papers, 1.9% of this breakdownBelgium: 153 citing papers, 1.7% of this breakdown
0%30.5%Other 23.8%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology61.1%
  • Medicine29.9%
  • Neuroscience3.5%
  • Immunology and Microbiology1.8%
  • Computer Science0.7%
  • Pharmacology, Toxicology and Pharmaceutics0.6%
  • Other2.4%

Topics

  • Genomics and Rare Diseases12.5%
  • Genomic variations and chromosomal abnormalities5.1%
  • BRCA gene mutations in cancer4.2%
  • Cancer Genomics and Diagnostics4.2%
  • Epigenetics and DNA Methylation2.9%
  • Acute Myeloid Leukemia Research2.5%
  • Other68.6%

Coauthors

All papers

Open in search
  1. ClinGen — The Clinical Genome Resource

    Authors: Heidi L. Rehm, Jonathan S. Berg, Lisa Brooks, Carlos D. Bustamante, James P. Evans, Melissa Landrum, David H. Ledbetter, Donna Maglott, Christa Lese Martin, Robert L. Nussbaum, Sharon E. Plon, Erin M. Ramos, Stephen T. Sherry, Michael S. Watson - New England Journal of Medicine 2015 cited by 1,537

  2. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

    Authors: Vikas Pejaver, Alicia B. Byrne, Bing Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O’Donnell‐Luria, Steven M. Harrison, Sean V. Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner, Leslie G. Biesecker, Steven M. Harrison, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper, Sean V. Tavtigian, Scott Topper - The American Journal of Human Genetics 2022 cited by 528

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

    Authors: Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan, Ozge Ceyhan‐Birsoy, Marina T. DiStefano, Selina S. Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A. Seifert, Tam P. Sneddon, Matt W. Wright, Laura V. Milko, J. Michael Cherry, Monica A. Giovanni, Michael F. Murray, Julianne O’Daniel, Erin M. Ramos, Avni Santani, Alan F. Scott, Sharon E. Plon, Heidi L. Rehm, Christa Lese Martin, Jonathan S. Berg - The American Journal of Human Genetics 2017 cited by 564

  4. Dnmt3a is essential for hematopoietic stem cell differentiation

    Authors: Grant A. Challen, Deqiang Sun, Mira Jeong, Min Luo, Jaroslav Jelı́nek, Jonathan S. Berg, Christoph Bock, Aparna Vasanthakumar, Hongcang Gu, Yuanxin Xi, Shoudan Liang, Yue Lu, Gretchen J. Darlington, Alexander Meissner, Jean‐Pierre J. Issa, Lucy A. Godley, Wei Li, Margaret A. Goodell - Nature Genetics 2011 cited by 1,107

  5. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

    Authors: Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons, Daffodil M. Canson, Dana M. Bis‐Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B. Byrne, Tina Pesaran, Rachid Karam, Steven M. Harrison, Amanda B. Spurdle, Leslie G. Biesecker, Steven M. Harrison, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper - The American Journal of Human Genetics 2023 cited by 305

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

    Authors: Robert C. Green, Jonathan S. Berg, Wayne W. Grody, Sarah S. Kalia, Bruce R. Korf, Christa Lese Martin, Amy L. McGuire, Robert L. Nussbaum, Julianne O’Daniel, Kelly E. Ormond, Heidi L. Rehm, Michael S. Watson, Marc S. Williams, Leslie G. Biesecker - Genetics in Medicine 2013 cited by 2,518

  7. The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

    Authors: Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin‐Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, S. E. A. Leigh, Ivone Leong, Sateesh Maddirevula, Christa Lese Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T. Michael Yates, Heidi L. Rehm - Genetics in Medicine 2022 cited by 163

  8. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

    Authors: E. Andres Rivera-Munoz, Laura V. Milko, Steven M. Harrison, Danielle R. Azzariti, C. Lisa Kurtz, Kristy Lee, Jessica L. Mester, Meredith Weaver, Erin Currey, William Craigen, Charis Eng, Birgit Funke, Madhuri Hegde, Ray E. Hershberger, Rong Mao, Robert D. Steiner, Lisa M. Vincent, Christa Lese Martin, Sharon E. Plon, Erin M. Ramos, Heidi L. Rehm, Michael S. Watson, Jonathan S. Berg - Human Mutation 2018 cited by 219

  9. Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

    Authors: Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche, Ann Katherine M. Foreman, Julianne O’Daniel, Bryce A. Seifert, Kristy Lee, Alicia Brandt, Chelsea Gustafson, Daniela M. DeCristo, Natasha T. Strande, Lori Ramkissoon, Laura V. Milko, Phillips Owen, Sayanty Roy, Mai Xiong, Ryan S. Paquin, Rita M. Butterfield, Megan A. Lewis, Katherine J. Souris, Donald B. Bailey, Christine Rini, Jessica K. Booker, Bradford C. Powell, Karen E. Weck, Cynthia M. Powell, Jonathan S. Berg - The American Journal of Human Genetics 2020 cited by 125

  10. ACMG clinical laboratory standards for next-generation sequencing

    Authors: Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir, Jonathan S. Berg, Kerry K. Brown, Joshua L. Deignan, Michael J. Friez, Birgit Funke, Madhuri Hegde, Elaine Lyon - Genetics in Medicine 2013 cited by 930

  11. Dnmt3a and Dnmt3b Have Overlapping and Distinct Functions in Hematopoietic Stem Cells

    Authors: Grant A. Challen, Deqiang Sun, Allison Mayle, Mira Jeong, Min Luo, Blanca Rodríguez, Cates Mallaney, Hamza Celik, Liubin Yang, Zheng Xia, Sean M. Cullen, Jonathan S. Berg, Yayun Zheng, Gretchen J. Darlington, Wei Li, Margaret A. Goodell - Cell stem cell 2014 cited by 341

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

    Authors: 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, Benjamin S. Wilfond, Joseph D. McInerney - The American Journal of Human Genetics 2015 cited by 898

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

    Authors: Laura M. Amendola, Gail P. Jarvik, Michael C. Leo, Heather M. McLaughlin, Yassmine Akkari, Michelle D. Amaral, Jonathan S. Berg, Sawona Biswas, Kevin M. Bowling, Laura K. Conlin, Gregory M. Cooper, Michael O. Dorschner, Matthew C. Dulik, Arezou A. Ghazani, Rajarshi Ghosh, Robert C. Green, Ragan Hart, Carolyn Horton, Jennifer J. Johnston, Matthew S. Lebo, Aleksandar Milosavljević, Jeffrey Ou, Christine M. Pak, Ronak Y. Patel, Sumit Punj, Carolyn Sue Richards, Joseph S Salama, Natasha T. Strande, Yaping Yang, Sharon E. Plon, Leslie G. Biesecker, Heidi L. Rehm - The American Journal of Human Genetics 2016 cited by 580

  14. Newborn Sequencing in Genomic Medicine and Public Health

    Authors: Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey, Alan H. Beggs, Steven E. Brenner, Amy Brower, Julie A. Cakici, Ozge Ceyhan‐Birsoy, Kee Chan, Flavia Chen, Robert J. Currier, Dmitry Dukhovny, Robert C. Green, Julie Harris-Wai, Ingrid A. Holm, Brenda Iglesias, Galen Joseph, Stephen F. Kingsmore, Barbara A. Koenig, Pui–Yan Kwok, John D. Lantos, Steven J. Leeder, Megan A. Lewis, Amy L. McGuire, Laura V. Milko, Sean D. Mooney, Richard B. Parad, Stacey Pereira, Joshua E. Petrikin, Bradford C. Powell, Cynthia M. Powell, Jennifer M. Puck, Heidi L. Rehm, Neil Risch, Myra I. Roche, Joseph T.C. Shieh, Narayanan Veeraraghavan, Michael S. Watson, Laurel K. Willig, Timothy W. Yu, Tiina K. Urv, Anastasia L. Wise - PEDIATRICS 2017 cited by 235

  15. Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

    Authors: Hannah Gelman, Jennifer N. Dines, Jonathan S. Berg, Alice H. Berger, Sarah E. Brnich, Fuki M. Hisama, Richard G. James, Alan F. Rubin, Jay Shendure, Brian H. Shirts, Douglas M. Fowler, Lea M. Starita - Genome Medicine 2019 cited by 99

  16. An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

    Authors: Laura V. Milko, Julianne O’Daniel, Daniela M. DeCristo, Stephanie B. Crowley, Ann Katherine M. Foreman, Kathleen Wallace, Lonna Mollison, Natasha T. Strande, Zahra S. Girnary, Lacey Boshe, Arthur S. Aylsworth, Müge Güçsavaş‐Çalıkoğlu, Dianne M. Frazier, Neeta L. Vora, Myra I. Roche, Bradford C. Powell, Cynthia M. Powell, Jonathan S. Berg - The Journal of Pediatrics 2019 cited by 85

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

    Authors: Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona Kanavy, Xi Luo, Shannon McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg - Genome Medicine 2019 cited by 621

  18. Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation

    Authors: Courtney Thaxton, Jennifer Goldstein, Marina T. DiStefano, Kathleen Wallace, P. Dane Witmer, Melissa Haendel, Ada Hamosh, Heidi L. Rehm, Jonathan S. Berg - Cell Genomics 2022 cited by 56

  19. Identification of Clonal Hematopoiesis Mutations in Solid Tumor Patients Undergoing Unpaired Next-Generation Sequencing Assays

    Authors: Catherine C. Coombs, Nancy Gillis, Xianming Tan, Jonathan S. Berg, Markus Ball, Maria E. Balasis, Nathan D. Montgomery, Kelly L. Bolton, Joel S. Parker, Tania Mesa, Sean Yoder, Michele C. Hayward, Nirali M. Patel, Kristy L. Richards, Christine M. Walko, Todd C. Knepper, John T. Soper, Jared Weiss, Juneko E. Grilley‐Olson, William Y. Kim, H. Shelton Earp, Ross L. Levine, Elli Papaemmanuil, Ahmet Zehir, D. Neil Hayes, Eric Padron - Clinical Cancer Research 2018 cited by 123

  20. A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

    Authors: Jessica Ezzell Hunter, Stephanie A. Irving, Leslie G. Biesecker, Adam H. Buchanan, Brian C. Jensen, Kristy Lee, Christa Lese Martin, Laura V. Milko, Kristin R. Muessig, Annie Niehaus, Julianne O’Daniel, Margaret Piper, Erin M. Ramos, Sheri D. Schully, Alan F. Scott, Anne Slavotinek, Nara Sobreira, Natasha T. Strande, Meredith Weaver, Elizabeth M. Webber, Marc S. Williams, Jonathan S. Berg, James P. Evans, Katrina A.B. Goddard - Genetics in Medicine 2016 cited by 152

  21. ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

    Authors: Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo López Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina T. DiStefano, Julianne O’Daniel, Kristy Lee, Erin Rooney Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. Costa - Genome Medicine 2022 cited by 85

  22. Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification

    Authors: Courtney Thaxton, Molly Good, Marina T. DiStefano, Xi Luo, Erica Andersen, Erik C. Thorland, Jonathan S. Berg, Christa Lese Martin, Heidi L. Rehm, Erin Rooney Riggs, ClinGen Gene Curation Working Group, ClinGen Dosage Sensitivity Working Group - Human Mutation 2021 cited by 62

  23. Newborn screening for neurodevelopmental diseases: Are we there yet?

    Authors: Wendy K. Chung, Jonathan S. Berg, Jeffrey R. Botkin, Steven E. Brenner, Jeffrey P. Brosco, Kyle B. Brothers, Robert J. Currier, Amy Gaviglio, Walter E. Kowtoniuk, Colleen Olson, Michele A. Lloyd-Puryear, Annamarie Saarinen, Mustafa Şahin, Yufeng Shen, Elliott H. Sherr, Michael S. Watson, Zhanzhi Hu - American Journal of Medical Genetics Part C Seminars in Medical Genetics 2022 cited by 27

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

    Authors: Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia, John W. Belmont, Carlos A. Bacino, Trilochan Sahoo, Seema R. Lalani, Brett H. Graham, Brendan Lee, Marwan Shinawi, Joseph Shen, Sung-Hae L. Kang, Amber N. Pursley, Timothy Lotze, Gail Kennedy, Susan Lansky-Shafer, Christine A. Weaver, Elizabeth Roeder, Theresa A. Grebe, Georgianne L. Arnold, Terry Hutchison, Tyler Reimschisel, Stephen Amato, Michael T Geragthy, Jeffrey W. Innis, Ewa Obersztyn, Beata Nowakowska, Sally Rosengren, Patricia I. Bader, Dorothy K. Grange, Sayed Naqvi, Adolfo D. Garnica, Saunder Bernes, Chin-To Fong, Anne Summers, William D. Walters, James R. Lupski, Paweł Stankiewicz, Sau Wai Cheung, Ankita Patel - Nature Genetics 2008 cited by 635