Jonathan S. Berg
2000–2025 年に発表
- 85
- 論文数
- 19,244
- 被引用数
- 57
- h 指数
- 83
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology61.1%
- Medicine29.9%
- Neuroscience3.5%
- Immunology and Microbiology1.8%
- Computer Science0.7%
- Pharmacology, Toxicology and Pharmaceutics0.6%
- その他2.4%
トピック
- 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%
- その他68.6%
共著者
- Heidi L. Rehm19
- James P. Evans15
- Sharon E. Plon15
- Julianne O’Daniel14
- Bradford C. Powell13
- Laura V. Milko13
- Natasha T. Strande13
- Leslie G. Biesecker12
- Christa Lese Martin10
- Cynthia M. Powell10
- Marina T. DiStefano10
- Ann Katherine M. Foreman9
- Christine Rini8
- Laura M. Amendola8
- Steven M. Harrison8
- Myra I. Roche7
- Richard E. Cheney7
- Amy L. McGuire6
- Courtney Thaxton6
- Erin M. Ramos6
- Erin Rooney Riggs6
- Gail P. Jarvik6
- Ingrid A. Holm6
- John W. Belmont6
全論文
- ClinGen — The Clinical Genome Resource
著者: 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 被引用: 1,537
- Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
著者: 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 被引用: 528
- Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
著者: 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 被引用: 564
- Dnmt3a is essential for hematopoietic stem cell differentiation
著者: 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 被引用: 1,107
- Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
著者: 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 被引用: 305
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
著者: 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 被引用: 2,518
- The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
著者: 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 被引用: 163
- ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
著者: 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 被引用: 219
- Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project
著者: 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 被引用: 125
- ACMG clinical laboratory standards for next-generation sequencing
著者: 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 被引用: 930
- Dnmt3a and Dnmt3b Have Overlapping and Distinct Functions in Hematopoietic Stem Cells
著者: 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 被引用: 341
- Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
著者: 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 被引用: 898
- Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
著者: 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 被引用: 580
- Newborn Sequencing in Genomic Medicine and Public Health
著者: 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 被引用: 235
- Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation
著者: 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 被引用: 99
- An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening
著者: 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 被引用: 85
- Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
著者: 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 被引用: 621
- Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation
著者: 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 被引用: 56
- Identification of Clonal Hematopoiesis Mutations in Solid Tumor Patients Undergoing Unpaired Next-Generation Sequencing Assays
著者: 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 被引用: 123
- A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
著者: 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 被引用: 152
- ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
著者: 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 被引用: 85
- Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification
著者: 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 被引用: 62
- Newborn screening for neurodevelopmental diseases: Are we there yet?
著者: 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 被引用: 27
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
著者: 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 被引用: 635
