William A. Gahl

1985–2025 年に発表

別表記
William A Gahl
230
論文数
30,377
被引用数
105
h 指数
223
i10 指数

被引用数

William A. Gahl の年別被引用数1967 年: 被引用 2 件1986 年: 被引用 4 件1987 年: 被引用 13 件1988 年: 被引用 10 件1989 年: 被引用 10 件1990 年: 被引用 18 件1991 年: 被引用 9 件1992 年: 被引用 4 件1993 年: 被引用 22 件1994 年: 被引用 16 件1995 年: 被引用 31 件1996 年: 被引用 8 件1997 年: 被引用 15 件1998 年: 被引用 33 件1999 年: 被引用 55 件2000 年: 被引用 102 件2001 年: 被引用 112 件2002 年: 被引用 148 件2003 年: 被引用 148 件2004 年: 被引用 157 件2005 年: 被引用 108 件2006 年: 被引用 127 件2007 年: 被引用 99 件2008 年: 被引用 101 件2009 年: 被引用 107 件2010 年: 被引用 157 件2011 年: 被引用 201 件2012 年: 被引用 248 件2013 年: 被引用 223 件2014 年: 被引用 215 件2015 年: 被引用 158 件2016 年: 被引用 291 件2017 年: 被引用 239 件2018 年: 被引用 231 件2019 年: 被引用 857 件2020 年: 被引用 1,012 件2021 年: 被引用 1,048 件2022 年: 被引用 815 件2023 年: 被引用 493 件2024 年: 被引用 888 件2025 年: 被引用 375 件2026 年: 被引用 18 件1968〜1985 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 3,313 件、この内訳の 27%イギリス: 引用元論文 971 件、この内訳の 7.9%ドイツ: 引用元論文 861 件、この内訳の 7%フランス: 引用元論文 667 件、この内訳の 5.4%中国: 引用元論文 600 件、この内訳の 4.9%イタリア: 引用元論文 577 件、この内訳の 4.7%カナダ: 引用元論文 479 件、この内訳の 3.9%オランダ: 引用元論文 466 件、この内訳の 3.8%日本: 引用元論文 390 件、この内訳の 3.2%オーストラリア: 引用元論文 363 件、この内訳の 3%スペイン: 引用元論文 315 件、この内訳の 2.6%ベルギー: 引用元論文 260 件、この内訳の 2.1%
0%27%その他 24.5%

分野

  • Biochemistry, Genetics and Molecular Biology46.7%
  • Medicine39.7%
  • Neuroscience5.2%
  • Immunology and Microbiology3.9%
  • Nursing1.9%
  • Computer Science0.4%
  • その他2.2%

トピック

  • Genomics and Rare Diseases3%
  • Cellular transport and secretion2.1%
  • Metabolism and Genetic Disorders1.5%
  • Biomedical Research and Pathophysiology1.5%
  • Mitochondrial Function and Pathology1.4%
  • Otitis Media and Relapsing Polychondritis1.4%
  • その他89.1%

共著者

全論文

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  1. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Natalie Deuitch, Dorota Rowczenio, Emily Rominger, Kristina V Wells, Chyi‐Chia Richard Lee, Weixin Wang, Megan Trick, James C. Mullikin, Gustaf Wigerblad, Stephen R. Brooks, Stefania Dell’Orso, Zuoming Deng, Jae Jin Chae, Alina Dulau‐Florea, May Christine V. Malicdan, Danica Novacic, Robert A. Colbert, Mariana J. Kaplan, Massimo Gadina, Sinisa Savic, Helen J. Lachmann, Mones Abu‐Asab, Benjamin D. Solomon, Kyle Retterer, William A. Gahl, Shawn M. Burgess, Ivona Aksentijevich, Neal S. Young, Katherine R. Calvo, Achim Werner, Daniel L. Kastner, Peter C. Grayson - New England Journal of Medicine 2020 被引用: 1,154

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , - Nature 2020 被引用: 346

  3. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Michael F. Wangler, Monte Westerfield, Matthew T. Wheeler, Anastasia L. Wise, Elizabeth A. Worthey, Shinya Yamamoto, Euan A. Ashley - New England Journal of Medicine 2018 被引用: 374

  4. Platelet Polyphosphates Are Proinflammatory and Procoagulant Mediators In Vivo

    著者: , , , , , , , , , - Cell 2009 被引用: 834

  5. Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Siraj M. Ali, Samuel Briggs, Omotayo Fasan, Jared Block, Sébastien Héritier, Jean Donadieu, David B. Solit, David M. Hyman, José Baselga, Filip Jankú, Barry S. Taylor, Christopher Y. Park, Zahir Amoura, Ahmet Doǧan, Jean‐François Emile, Neal Rosen, Tanja A. Grüber, Omar Abdel‐Wahab - Cancer Discovery 2015 被引用: 533

  6. Phenotype and Course of Hutchinson–Gilford Progeria Syndrome

    著者: , , , , , , , , , , , , , , , , , , , , , , , , - New England Journal of Medicine 2008 被引用: 741

  7. Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , - PLoS ONE 2019 被引用: 99

  8. Sialin ( SLC17A5 ) functions as a nitrate transporter in the plasma membrane

    著者: , , , , , , , , , , , , , , , , , - National Academy of Sciences, Proceedings of the National Academy of Sciences 2012 被引用: 216

  9. 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

  10. Proteomic analysis of platelet α‐granules using mass spectrometry

    著者: , , , , - Journal of Thrombosis and Haemostasis 2007 被引用: 328

  11. Lysosomal storage diseases

    著者: , - Translational Science of Rare Diseases 2016 被引用: 263

  12. GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

    著者: , , , , , , , , , , , , , , , , , - Annals of Clinical and Translational Neurology 2014 被引用: 296

  13. Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Raphaela Goldbach‐Mansky, William A. Gahl, John J. O’Shea, Joshua D. Milner, Nathan E. Lewis, Johanna Chang, Daniel L. Kastner, Kathryn S. Torok, Hirotsugu Oda, Christopher D. Putnam, Lori Broderick - New England Journal of Medicine 2023 被引用: 77

  14. A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Josep Antoni Ramos‐Quiroga, Amaia Hervás, Brion S. Maher, Stephen V. Faraone, Christiane Seitz, Christine M. Freitag, Haukur Pálmason, Jobst Meyer, Marcel Romanos, Susanne Walitza, U. Hemminger, Andreas Warnke, Jasmin Romanos, Tobias Renner, Christian Jacob, K-P Lesch, James M. Swanson, Alexander O. Vortmeyer, Joan E. Bailey‐Wilson, F. Xavier Castellanos, Maximilian Muenke - Molecular Psychiatry 2010 被引用: 293

  15. The clinical spectrum of Erdheim-Chester disease: an observational cohort study

    著者: , , , , , , , , , , , , , , , - Blood Advances 2017 被引用: 250

  16. 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

  17. Cystinosis

    著者: , , - New England Journal of Medicine 2002 被引用: 694

  18. NT5E Mutations and Arterial Calcifications

    著者: , , , , , , , , , , , , , , , , , , , , - New England Journal of Medicine 2011 被引用: 450

  19. Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , - Nature Methods 2015 被引用: 263

  20. Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

    著者: , , , , , , , , , , , , , , , - Nature Communications 2017 被引用: 103

  21. Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , - New England Journal of Medicine 2009 被引用: 580

  22. Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells

    著者: , , , , , , , , , , , , , , - National Academy of Sciences, Proceedings of the National Academy of Sciences 2005 被引用: 216

  23. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , James C. Mullikin, Gerard Schwartz, Bruria Ben‐Zeev, William A. Gahl, J. Wade Harper, Nenad Blau, Georg F. Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff - The American Journal of Human Genetics 2017 被引用: 155

  24. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Vincent d’Hardemare, Deciphering Developmental Disorders Study, Asif Doja, Nathalie Dorison, Diane Doummar, Marisela Dy-Hollins, Ellyn Farrelly, David Fitzpatrick, Conor Fearon, Elizabeth L. Fieg, Brent L. Fogel, Eva Forman, Rachel Fox, William A. Gahl, Serena Galosi, Victoria González, Tracey D. Graves, Allison Gregory, Mark Hallett, Harutomo Hasegawa, Susan J. Hayflick, Ada Hamosh, Marie Hully, Sandra Jansen, Suh Young Jeong, Joel B. Krier, Sidney Krystal, Kishore R. Kumar, Chloé Laurencin, Hane Lee, Gaëtan Lesca, Laurence Lion François, Timothy Lynch, Neil Mahant, Julián A. Martínez-Agosto, Christophe Milési, Kelly A. Mills, M. Mondain, Hugo Morales‐Briceño, NIHR BioResource, John R. Østergaard, Swasti Pal, J. Carl Pallais, Frédérique Pavillard, Pierre-Francois Perrigault, Andrea Petersen, Gustavo Polo, Gaëtan Poulen, Tuula Rinne, Thomas Roujeau, Caleb Rogers, Agathe Roubertie, Michelle Sahagian, Élise Schaefer, Laila Selim, Richard Selway, Nutan Sharma, Rebecca Signer, Ariane Soldatos, David A. Stevenson, Fiona Stewart, Michel Tchan, Undiagnosed Diseases Network, Ishwar C. Verma, Bert B A de Vries, Jenny L. Wilson, Derek A. Wong, Raghda Mohamed Hesham Zaitoun, Dolly Zhen, Anna Znaczko ほか 14 名 - Brain 2020 被引用: 115