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Leslie G. Biesecker

Active 1995–2025

Also published as
Leslie G Biesecker
176
Papers
34,396
Citations
103
h-index
172
i10-index

Citations

Citations per year for Leslie G. Biesecker1955: 1 citations1992: 1 citations1996: 7 citations1997: 11 citations1998: 23 citations1999: 48 citations2000: 49 citations2001: 68 citations2002: 74 citations2003: 103 citations2004: 96 citations2005: 96 citations2006: 102 citations2007: 76 citations2008: 75 citations2009: 67 citations2010: 118 citations2011: 189 citations2012: 230 citations2013: 334 citations2014: 370 citations2015: 425 citations2016: 393 citations2017: 363 citations2018: 383 citations2019: 1,098 citations2020: 1,027 citations2021: 1,080 citations2022: 739 citations2023: 526 citations2024: 977 citations2025: 407 citations2026: 16 citations1956–1991: no citations, so these years are not shown1993–1995: no citations, so these years are not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 4,037 citing papers, 28.2% of this breakdownUnited Kingdom: 1,215 citing papers, 8.5% of this breakdownCanada: 788 citing papers, 5.5% of this breakdownGermany: 752 citing papers, 5.3% of this breakdownFrance: 654 citing papers, 4.6% of this breakdownItaly: 647 citing papers, 4.5% of this breakdownNetherlands: 582 citing papers, 4.1% of this breakdownAustralia: 561 citing papers, 3.9% of this breakdownChina: 517 citing papers, 3.6% of this breakdownSpain: 409 citing papers, 2.9% of this breakdownJapan: 293 citing papers, 2% of this breakdownBelgium: 279 citing papers, 2% of this breakdown
0%28.2%Other 24.9%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology59.3%
  • Medicine28.5%
  • Neuroscience5%
  • Immunology and Microbiology3.2%
  • Pharmacology, Toxicology and Pharmaceutics0.7%
  • Computer Science0.6%
  • Other2.7%

Topics

  • Genomics and Rare Diseases9.8%
  • Genomic variations and chromosomal abnormalities4.7%
  • BRCA gene mutations in cancer2.8%
  • Cancer Genomics and Diagnostics2.7%
  • Genetics and Neurodevelopmental Disorders2.4%
  • Genetic Associations and Epidemiology2.2%
  • Other75.4%

Coauthors

All papers

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  1. 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

  2. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

    Authors: Ahmad Abou Tayoun, Tina Pesaran, Marina T. DiStefano, Andrea M. Oza, Heidi L. Rehm, Leslie G. Biesecker, Steven M. Harrison, ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI) - Human Mutation 2018 cited by 881

  3. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

    Authors: Sean V. Tavtigian, Marc S. Greenblatt, Steven M. Harrison, Robert L. Nussbaum, Snehit Prabhu, Kenneth M. Boucher, Leslie G. Biesecker - Genetics in Medicine 2018 cited by 606

  4. Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

    Authors: David T. Miller, Margaret P Adam, Swaroop Aradhya, Leslie G. Biesecker, Arthur R. Brothman, Nigel P. Carter, Deanna M. Church, John A. Crolla, Evan E. Eichler, Charles J. Epstein, W. Andrew Faucett, Lars Feuk, Jan M. Friedman, Ada Hamosh, Laird Jackson, Erin B. Kaminsky, Klaas Kok, Ian D. Krantz, Robert M. Kuhn, Charles Lee, James M. Ostell, Carla Rosenberg, Stephen W. Scherer, Nancy B. Spinner, Dimitri J. Stavropoulos, James Tepperberg, Erik C. Thorland, Joris Vermeesch, Darrel Waggoner, Michael S. Watson, Christa Lese Martin, David H. Ledbetter - The American Journal of Human Genetics 2010 cited by 2,873

  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. Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

    Authors: Sean V. Tavtigian, Steven M. Harrison, Kenneth M. Boucher, Leslie G. Biesecker - Human Mutation 2020 cited by 333

  8. Strategic vision for improving human health at The Forefront of Genomics

    Authors: Eric D. Green, Chris Gunter, Leslie G. Biesecker, Valentina Di Francesco, Carla Easter, Elise A. Feingold, Adam L. Felsenfeld, David Kaufman, Elaine A. Ostrander, William J. Pavan, Adam M. Phillippy, Anastasia L. Wise, Jyoti G. Dayal, Britny J. Kish, Allison Mandich, Christopher R. Wellington, Kris A. Wetterstrand, Sarah A. Bates, D. Leja, Susan Vasquez, William A. Gahl, B Graham, Daniel L. Kastner, Paul Liu, Laura Lyman Rodriguez, Benjamin D. Solomon, Vence L. Bonham, Lawrence C. Brody, Carolyn M. Hutter, Teri A. Manolio - Nature 2020 cited by 346

  9. Guidelines for investigating causality of sequence variants in human disease

    Authors: Daniel G. MacArthur, Teri A. Manolio, David Dimmock, Heidi L. Rehm, Jay Shendure, Gonçalo R. Abecasis, David R. Adams, Russ B. Altman, Stylianos E. Antonarakis, Euan A. Ashley, Jeffrey C. Barrett, Leslie G. Biesecker, Don F. Conrad, Gregory M. Cooper, Nancy J. Cox, Mark J. Daly, Mark Gerstein, David B. Goldstein, Joel N. Hirschhorn, Suzanne M. Leal, L Pennacchio, J Stamatoyannopoulos, Shamil Sunyaev, David Valle, Benjamin F. Voight, Wendy Winckler, Chris Gunter - Nature 2014 cited by 1,288

  10. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

    Authors: Jonathan J. Lyons, Xiaomin Yu, Jason D. Hughes, Quang Le, Ali Jamil, Yun Bai, Nancy T. Ho, Ming Zhao, Yihui Liu, Michael P. O’Connell, Neil N. Trivedi, Celeste Nelson, Thomas DiMaggio, Nina Jones, Helen Matthews, Katie L Lewis, Andrew J. Oler, Ryan J. Carlson, Peter D. Arkwright, Celine Hong, Sherene Agama, Todd M. Wilson, Sofie Tucker, Yu Zhang, Joshua McElwee, Maryland Pao, Sarah C. Glover, Marc E. Rothenberg, R J Hohman, Kelly D. Stone, George H. Caughey, Theo Heller, Dean D. Metcalfe, Leslie G. Biesecker, Lawrence B. Schwartz, Joshua D. Milner - Nature Genetics 2016 cited by 393

  11. Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines

    Authors: Steven M. Harrison, Leslie G. Biesecker, Heidi L. Rehm - Current Protocols in Human Genetics 2019 cited by 219

  12. Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries

    Authors: Abdul Rouf Banday, Megan L. Stanifer, Oscar Flórez-Vargas, Olusegun O. Onabajo, Brenen W. Papenberg, Muhammad Atif Zahoor, Lisa Mirabello, Timothy J. Ring, Chia‐Han Lee, Paul S. Albert, Evangelos Andreakos, Evgeny Arons, Gregory S. Barsh, Leslie G. Biesecker, David L. Boyle, Mark Brahier, Andrea N. Burnett‐Hartman, Mary Carrington, Euijin Chang, Pyoeng Gyun Choe, Rex L. Chisholm, Leandro M. Colli, Clifton L. Dalgard, Carolynn M. Dude, Jeff Edberg, Nathan Erdmann, Heather Spencer Feigelson, Benedito Antônio Lopes da Fonseca, Gary S. Firestein, Adam J. Gehring, Cuncai Guo, Michelle Ho, Steven M. Holland, Amy Hutchinson, Hogune Im, Les’Shon S. Irby, Michael G. Ison, Naima T. Joseph, Hong Bin Kim, Robert J. Kreitman, Bruce R. Korf, Steven M. Lipkin, Siham Mahgoub, Iman Mohammed, Г. Пасчоалини, Jennifer A. Pacheco, Michael J. Peluso, Daniel J. Rader, David T. Redden, Marylyn D. Ritchie, Brooke Rosenblum, M. Elizabeth Ross, Hanaísa P. Sant Anna, Sharon A. Savage, Sudha Sharma, Eleni Siouti, Alicia K. Smith, Vasiliki Triantafyllia, Joselin M. Vargas, Jose D. Vargas, Anurag Verma, Vibha Vij, Duane R. Wesemann, Meredith Yeager, Xu G. Yu, Yu Zhang, Steeve Boulant, Stephen J. Chanock, Jordan J. Feld, Ludmila Prokunina‐Olsson - Nature Genetics 2022 cited by 138

  13. The ACMG/AMP reputable source criteria for the interpretation of sequence variants

    Authors: Leslie G. Biesecker, Steven M. Harrison - Genetics in Medicine 2018 cited by 275

  14. PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

    Authors: Kim M. Keppler‐Noreuil, Jonathan J. Rios, Victoria Parker, Robert K. Semple, Marjorie J. Lindhurst, Julie C. Sapp, Ahmad I. Alomari, Marybeth Ezaki, William B. Dobyns, Leslie G. Biesecker - American Journal of Medical Genetics Part A 2014 cited by 572

  15. Genotype first: Clinical genomics research through a reverse phenotyping approach

    Authors: Caralynn M. Wilczewski, Justice Obasohan, Justin Paschall, Suiyuan Zhang, Sumeeta Singh, George L. Maxwell, Morgan Similuk, Tyra G. Wolfsberg, Clesson Turner, Leslie G. Biesecker, Alexander Katz - The American Journal of Human Genetics 2023 cited by 73

  16. Updated recommendation for the benign stand‐alone ACMG/AMP criterion

    Authors: Rajarshi Ghosh, Steven M. Harrison, Heidi L. Rehm, Sharon E. Plon, Leslie G. Biesecker, on behalf of ClinGen Sequence Variant Interpretation Working Group - Human Mutation 2018 cited by 181

  17. 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

  18. Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

    Authors: Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, Katrina Andrews, Paulina Stadnik, Agnel Praveen Joseph, Rachel Knox, Alan Pittman, Graeme M. Clark, William Baird, Neil Bulstrode, Mary Glover, Kristiana Gordon, Darren Hargrave, Susan Huson, Thomas S. Jacques, Greg James, Hannah Kondolf, Loshan Kangesu, Kim M. Keppler‐Noreuil, Muhammad Amjad Khan, Marjorie J. Lindhurst, Mark Lipson, Sahar Mansour, Justine O’Hara, Caroline Mahon, Anda Mosica, Celia Moss, Aditi S. Murthy, Juling Ong, Victoria Parker, Jean‐Baptiste Rivière, Julie C. Sapp, Neil J. Sebire, Rahul Shah, Branavan Sivakumar, Anna Thomas, Alex Virasami, Regula Waelchli, Zhiqiang Zeng, Leslie G. Biesecker, Alex Barnacle, Maya Topf, Robert K. Semple, E. Elizabeth Patton, Veronica A. Kinsler - Journal of Clinical Investigation 2018 cited by 286

  19. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

    Authors: Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Alistair T. Pagnamenta, Abdulrahman Alswaid, Eva H. Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vũ Chí Dũng, Lisa Emrick, David B. Everman, Koen L.I. van Gassen, Süleyman Gülsüner, Margaret Harr, Mahim Jain, Alma Kuechler, Kathleen A. Leppig, Donna M. McDonald‐McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth Roeder, R. Curtis Rogers, Lena Sagi‐Dain, Julie C. Sapp, Alejandro A. Schäffer, Denny Schanze, Helen Stewart, Jenny C. Taylor, Nienke E. Verbeek, Magdalena Walkiewicz, Elaine H. Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G. Biesecker - Genetics in Medicine 2018 cited by 220

  20. A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

    Authors: Kym M. Boycott, Taila Hartley, Leslie G. Biesecker, Richard A. Gibbs, A. Micheil Innes, Olaf Rieß, John W. Belmont, Sally L. Dunwoodie, Nebojša Jojić, Timo Lassmann, Deborah Mackay, I. Karen Temple, Axel Visel, Gareth Baynam - Cell 2019 cited by 189

  21. A genomic view of mosaicism and human disease

    Authors: Leslie G. Biesecker, Nancy B. Spinner - Nature Reviews Genetics 2013 cited by 625

  22. ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

    Authors: Leslie G. Biesecker, Alicia B. Byrne, Steven M Harrison, Tina Pesaran, Alejandro A. Schäffer, Brian H. Shirts, Sean V. Tavtigian, Heidi L Rehm - The American Journal of Human Genetics 2023 cited by 83

  23. 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

  24. Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation

    Authors: Alexandre Bélot, Paul R. Kasher, Eleanor W. Trotter, Anne‐Perrine Foray, Anne‐Laure Debaud, Gillian Rice, Marcin Szynkiewicz, M. T. Zabot, Isabelle Rouvet, Sanjeev S. Bhaskar, Sarah B. Daly, Jonathan E. Dickerson, Joséphine Mayer, James O’Sullivan, Laurent Juillard, Jill Urquhart, Shameem Fawdar, Anna A. Marusiak, Natalie L. Stephenson, Bohdan Waszkowycz, Michael W. Beresford, Leslie G. Biesecker, Graeme C. Black, Céline René, Jean‐François Eliaou, Nicole Fabien, Bruno Ranchin, Pierre Cochat, Patrick M. Gaffney, Flore Rozenberg, Pierre Lebon, Christophe Malcus, Yanick J. Crow, John Brognard, Nathalie Bonnefoy - Arthritis & Rheumatism 2013 cited by 198