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Leslie G. Biesecker

1995–2025 年に発表

別表記
Leslie G Biesecker
176
論文数
34,396
被引用数
103
h 指数
172
i10 指数

被引用数

Leslie G. Biesecker の年別被引用数1955 年: 被引用 1 件1992 年: 被引用 1 件1996 年: 被引用 7 件1997 年: 被引用 11 件1998 年: 被引用 23 件1999 年: 被引用 48 件2000 年: 被引用 49 件2001 年: 被引用 68 件2002 年: 被引用 74 件2003 年: 被引用 103 件2004 年: 被引用 96 件2005 年: 被引用 96 件2006 年: 被引用 102 件2007 年: 被引用 76 件2008 年: 被引用 75 件2009 年: 被引用 67 件2010 年: 被引用 118 件2011 年: 被引用 189 件2012 年: 被引用 230 件2013 年: 被引用 334 件2014 年: 被引用 370 件2015 年: 被引用 425 件2016 年: 被引用 393 件2017 年: 被引用 363 件2018 年: 被引用 383 件2019 年: 被引用 1,098 件2020 年: 被引用 1,027 件2021 年: 被引用 1,080 件2022 年: 被引用 739 件2023 年: 被引用 526 件2024 年: 被引用 977 件2025 年: 被引用 407 件2026 年: 被引用 16 件1956〜1991 年は被引用が無いため表示していません1993〜1995 年は被引用が無いため表示していません

引用元

国・地域

この著者を引用した国・地域の世界地図アメリカ合衆国: 引用元論文 4,037 件、この内訳の 28.2%イギリス: 引用元論文 1,215 件、この内訳の 8.5%カナダ: 引用元論文 788 件、この内訳の 5.5%ドイツ: 引用元論文 752 件、この内訳の 5.3%フランス: 引用元論文 654 件、この内訳の 4.6%イタリア: 引用元論文 647 件、この内訳の 4.5%オランダ: 引用元論文 582 件、この内訳の 4.1%オーストラリア: 引用元論文 561 件、この内訳の 3.9%中国: 引用元論文 517 件、この内訳の 3.6%スペイン: 引用元論文 409 件、この内訳の 2.9%日本: 引用元論文 293 件、この内訳の 2%ベルギー: 引用元論文 279 件、この内訳の 2%
0%28.2%その他 24.9%

機関

分野

  • Biochemistry, Genetics and Molecular Biology59.3%
  • Medicine28.5%
  • Neuroscience5%
  • Immunology and Microbiology3.2%
  • Pharmacology, Toxicology and Pharmaceutics0.7%
  • Computer Science0.6%
  • その他2.7%

トピック

  • 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%
  • その他75.4%

共著者

全論文

検索で開く
  1. 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

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

    著者: 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 被引用: 881

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

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

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

    著者: 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 被引用: 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

    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

  6. 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

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

    著者: Sean V. Tavtigian, Steven M. Harrison, Kenneth M. Boucher, Leslie G. Biesecker - Human Mutation 2020 被引用: 333

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

    著者: 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 被引用: 346

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

    著者: 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 被引用: 1,288

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

    著者: 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 被引用: 393

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

    著者: Steven M. Harrison, Leslie G. Biesecker, Heidi L. Rehm - Current Protocols in Human Genetics 2019 被引用: 219

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

    著者: 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 被引用: 138

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

    著者: Leslie G. Biesecker, Steven M. Harrison - Genetics in Medicine 2018 被引用: 275

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

    著者: 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 被引用: 572

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

    著者: 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 被引用: 73

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

    著者: 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 被引用: 181

  17. 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

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

    著者: 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 被引用: 286

  19. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

    著者: 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 被引用: 220

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

    著者: 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 被引用: 189

  21. A genomic view of mosaicism and human disease

    著者: Leslie G. Biesecker, Nancy B. Spinner - Nature Reviews Genetics 2013 被引用: 625

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

    著者: 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 被引用: 83

  23. 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

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

    著者: 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 被引用: 198