Alan H. Beggs

1988–2025 年に発表

192
論文数
30,727
被引用数
97
h 指数
180
i10 指数

被引用数

Alan H. Beggs の年別被引用数1971 年: 被引用 1 件1989 年: 被引用 3 件1990 年: 被引用 15 件1991 年: 被引用 25 件1992 年: 被引用 31 件1993 年: 被引用 45 件1994 年: 被引用 32 件1995 年: 被引用 27 件1996 年: 被引用 33 件1997 年: 被引用 39 件1998 年: 被引用 69 件1999 年: 被引用 85 件2000 年: 被引用 95 件2001 年: 被引用 106 件2002 年: 被引用 107 件2003 年: 被引用 148 件2004 年: 被引用 184 件2005 年: 被引用 173 件2006 年: 被引用 165 件2007 年: 被引用 190 件2008 年: 被引用 215 件2009 年: 被引用 247 件2010 年: 被引用 241 件2011 年: 被引用 225 件2012 年: 被引用 207 件2013 年: 被引用 258 件2014 年: 被引用 270 件2015 年: 被引用 174 件2016 年: 被引用 155 件2017 年: 被引用 208 件2018 年: 被引用 210 件2019 年: 被引用 755 件2020 年: 被引用 900 件2021 年: 被引用 852 件2022 年: 被引用 762 件2023 年: 被引用 498 件2024 年: 被引用 930 件2025 年: 被引用 444 件2026 年: 被引用 16 件1972〜1988 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 3,529 件、この内訳の 29.6%イギリス: 引用元論文 955 件、この内訳の 8%ドイツ: 引用元論文 653 件、この内訳の 5.5%フランス: 引用元論文 612 件、この内訳の 5.1%イタリア: 引用元論文 601 件、この内訳の 5%中国: 引用元論文 545 件、この内訳の 4.6%カナダ: 引用元論文 517 件、この内訳の 4.3%オーストラリア: 引用元論文 467 件、この内訳の 3.9%オランダ: 引用元論文 425 件、この内訳の 3.6%日本: 引用元論文 400 件、この内訳の 3.4%スペイン: 引用元論文 289 件、この内訳の 2.4%ベルギー: 引用元論文 188 件、この内訳の 1.6%
0%29.6%その他 23%

分野

  • Biochemistry, Genetics and Molecular Biology55.6%
  • Medicine32.3%
  • Neuroscience6.8%
  • Immunology and Microbiology1.5%
  • Agricultural and Biological Sciences0.8%
  • Nursing0.7%
  • その他2.3%

トピック

  • Muscle Physiology and Disorders5.7%
  • Genomics and Rare Diseases3.6%
  • Cardiac electrophysiology and arrhythmias3.3%
  • Cardiomyopathy and Myosin Studies3.3%
  • Ion channel regulation and function3%
  • RNA modifications and cancer2.6%
  • その他78.5%

共著者

全論文

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  1. Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species

    著者: , , , , , , , , , , , , , , , , , - Cell 2021 被引用: 525

  2. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Kelly A. Pflock, Stephen J. Chu, Chantal Reed, Kimberly Tyndall, Pankaj B. Agrawal, Alan H. Beggs, P. Ellen Grant, David K. Urion, Richard O. Snyder, Susan E. Waisbren, Annapurna Poduri, Peter J. Park, Al Patterson, Alessandra Biffi, Joseph R. Mazzulli, Olaf A. Bodamer, Charles B. Berde, Timothy W. Yu - New England Journal of Medicine 2019 被引用: 805

  3. Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , - Genome Medicine 2021 被引用: 152

  4. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Matthew S. Lebo, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany Nguyen, Richard B. Parad, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Heidi L. Rehm, Amy E. Roberts, Jill O. Robinson, Serguei Roumiantsev, Talia S. Schwartz, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren, Timothy W. Yu - The American Journal of Human Genetics 2019 被引用: 307

  5. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Michael W. Lawlor, Suyash Prasad, Salvador Rico - The Lancet Neurology 2023 被引用: 120

  6. Genome Sequencing for Diagnosing Rare Diseases

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Denny Popp, Tilman Polster, Konrad Platzer, Eric A. Pierce, Emily Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei‐Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O’Leary, Emily O’Heir, Chantal F. Morel, Andreas Merkenschlager, Rhett G. Marchant, Brian Mangilog, Jill A. Madden, Daniel G. MacArthur, Alysia Kern Lovgren, Jordan Lerner‐Ellis, Jasmine Lin, Nigel G. Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia K. Goodrich, Joseph G. Gleeson, Roula Ghaoui, Casie A. Genetti, Janina Gburek‐Augustat, Hanna T. Gazda, Vijay Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T. Cooper, Wendy K. Chung, John Christodoulou, Katherine R. Chao, Liam D. Cato, Kinga M. Bujakowska, Samantha J. Bryen, Harrison Brand, Carsten G. Bönnemann, Alan H. Beggs, Samantha Baxter, Tobias Bartolomaeus, Pankaj B. Agrawal, Michael E. Talkowski, Christina Austin‐Tse, Rami Abou Jamra, Heidi L. Rehm, Anne O’Donnell‐Luria - New England Journal of Medicine 2024 被引用: 184

  7. Genotype-Phenotype Correlation in the Long-QT Syndrome

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , - Circulation 2001 被引用: 1,755

  8. The BabySeq project: implementing genomic sequencing in newborns

    著者: , , , , , , , , , , , , , , , , , , , , - BMC Pediatrics 2018 被引用: 194

  9. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

    著者: , , , , , , , , , , , , , , - Science Translational Medicine 2020 被引用: 125

  10. The Genetic Landscape of Diamond-Blackfan Anemia

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Anne O’Donnell‐Luria, Namrata Gupta, Stacey Gabriel, Daniel G. MacArthur, Eric S. Lander, Monkol Lek, Lydie Da Costa, David G. Nathan, А.A. Коростелев, Ron Do, Vijay G. Sankaran, Hanna T. Gazda - The American Journal of Human Genetics 2018 被引用: 270

  11. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Deborah Barbouth, Gabriel F. Batzli, Pinar Bayrak‐Toydemir, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, David Bick, Camille L. Birch, Stephanie Bivona, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Braden Boone, Bret L. Bostwick, Lorenzo D. Botto, Lauren C. Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Laura Duncan, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Liliana Fernández, Carlos R. Ferreira, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, Laure Frésard, William A. Gahl, Rena A. Godfrey, Alica M. Goldman, David B. Goldstein, Jean‐Philippe F. Gourdine ほか 175 名 - The American Journal of Human Genetics 2019 被引用: 97

  12. Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study

    著者: , , , , , , , , , , , , , - Frontiers in Genetics 2022 被引用: 69

  13. Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project

    著者: , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2023 被引用: 55

  14. Newborn Sequencing in Genomic Medicine and Public Health

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  15. A curated gene list for reporting results of newborn genomic sequencing

    著者: , , , , , , , , , , - Genetics in Medicine 2017 被引用: 128

  16. ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

    著者: , , , , , , , , , , , , , , , , , - Genetics in Medicine 2018 被引用: 111

  17. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

    著者: , , , , , , , - National Academy of Sciences, Proceedings of the National Academy of Sciences 2005 被引用: 631

  18. Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project

    著者: , , , , , , , , , , , - PEDIATRICS 2019 被引用: 87

  19. ACTN3 Genotype Is Associated with Human Elite Athletic Performance

    著者: , , , , , , - The American Journal of Human Genetics 2003 被引用: 917

  20. Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

    著者: , , , , , , , , , , - Nature Genetics 2000 被引用: 1,249

  21. Type I interferon–inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis

    著者: , , , , , , , , - Arthritis & Rheumatism 2007 被引用: 304

  22. Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Joel B. Krier, Matthew S. Lebo, Kaitlyn B. Lee, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany T. Nguyen Dolphyn, Richard B. Parad, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Heidi L. Rehm, Amy E. Roberts, Jill O. Robinson, S. A. Roumiantsev, Talia S. Schwartz, Hadley Stevens Smith, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren, Timothy W. Yu, Carrie L. Blout Zawatsky, Bethany Zettler - JAMA Pediatrics 2021 被引用: 82

  23. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita E. Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo D. Botto, Lauren C. Briere, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John M. Carey, Thomas Cassini, Sirisak Chanprasert, Hsiao‐Tuan Chao, Iván K. Chinn, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Rosario I. Corona, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Margaret Delgado, Esteban C. Dell’Angelica, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Dawn Earl, David J. Eckstein, Lisa Emrick, Christine M. Eng, Marni J. Falk, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Jiayu Fu, William A. Gahl, I. S. Glass, Pagé C. Goddard, Rena A. Godfrey ほか 163 名 - The Journal of Experimental Medicine 2024 被引用: 37

  24. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Maegan Harden, Ingrid A. Holm, Joel B. Krier, Matthew S. Lebo, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany Nguyen, Richard B. Parad, Richard B. Parad, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Heidi L. Rehm, Amy E. Roberts, Jill O. Robinson, S. A. Roumiantsev, Talia S. Schwartz, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren, Timothy W. Yu - Genetics in Medicine 2018 被引用: 99