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Suzanne M. Leal

1969–2025 年に発表

106
論文数
25,283
被引用数
69
h 指数
99
i10 指数

被引用数

Suzanne M. Leal の年別被引用数1972 年: 被引用 4 件1988 年: 被引用 1 件1992 年: 被引用 7 件1993 年: 被引用 6 件1994 年: 被引用 11 件1995 年: 被引用 9 件1996 年: 被引用 17 件1997 年: 被引用 13 件1998 年: 被引用 11 件1999 年: 被引用 16 件2000 年: 被引用 14 件2001 年: 被引用 19 件2002 年: 被引用 23 件2003 年: 被引用 28 件2004 年: 被引用 38 件2005 年: 被引用 49 件2006 年: 被引用 62 件2007 年: 被引用 51 件2008 年: 被引用 218 件2009 年: 被引用 289 件2010 年: 被引用 314 件2011 年: 被引用 329 件2012 年: 被引用 366 件2013 年: 被引用 492 件2014 年: 被引用 427 件2015 年: 被引用 413 件2016 年: 被引用 402 件2017 年: 被引用 413 件2018 年: 被引用 348 件2019 年: 被引用 761 件2020 年: 被引用 653 件2021 年: 被引用 633 件2022 年: 被引用 481 件2023 年: 被引用 288 件2024 年: 被引用 425 件2025 年: 被引用 189 件2026 年: 被引用 11 件1973〜1987 年は被引用が無いため表示していません1989〜1991 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 4,144 件、この内訳の 29.7%イギリス: 引用元論文 1,151 件、この内訳の 8.2%中国: 引用元論文 761 件、この内訳の 5.5%ドイツ: 引用元論文 701 件、この内訳の 5%カナダ: 引用元論文 578 件、この内訳の 4.1%フランス: 引用元論文 553 件、この内訳の 4%イタリア: 引用元論文 467 件、この内訳の 3.3%オランダ: 引用元論文 467 件、この内訳の 3.3%オーストラリア: 引用元論文 453 件、この内訳の 3.2%スペイン: 引用元論文 319 件、この内訳の 2.3%日本: 引用元論文 314 件、この内訳の 2.3%スウェーデン: 引用元論文 306 件、この内訳の 2.2%
0%29.7%その他 26.9%

機関

分野

  • Biochemistry, Genetics and Molecular Biology61.5%
  • Medicine22%
  • Neuroscience8.9%
  • Immunology and Microbiology2.6%
  • Computer Science1%
  • Agricultural and Biological Sciences0.9%
  • その他3.1%

トピック

  • Genetic Associations and Epidemiology7.6%
  • Genomics and Rare Diseases5.6%
  • Genomic variations and chromosomal abnormalities3.2%
  • Genetic Mapping and Diversity in Plants and Animals2.8%
  • Genomics and Phylogenetic Studies2.2%
  • Genetics and Neurodevelopmental Disorders2%
  • その他76.6%

共著者

全論文

検索で開く
  1. A second generation human haplotype map of over 3.1 million SNPs

    著者: Sarah S. Murray, David A. Hinds, Laura L. Stuvé, Dennis G. Ballinger, David R. Cox, George M. Weinstock, Donna M. Muzny, David A. Wheeler, Imtaz Yakub, John W. Belmont, Erica Sodergren, Erica Sodergren, Lynne Nazareth, Suzanne M. Leal, Thomas D. Willis, T. D. Willis, Andrew Boudreau, Paul Hardenbol, Albert V. Smith, Lalitha Krishnan, Shiran Pasternak, Marcela K. Tello-Ruiz, Richa Saxena, Paul I. W. de Bakker, Amy Camargo, Matthew Defelice, Mary Goyette, Yves Chrétien, Jessica Roy, Maura Faggart, Steve McCarroll, Brendan Blumenstiel, Huy Nguyen, Daniel J. Richter, Supriya Gupta, Melissa Parkin, Pardis C. Sabeti, Patrick Varilly, Alkes L. Price, Erich Stahl, Ellen Winchester, Rachel Barry, Chris Spencer, Fuli Yu, S. F. Schaffner, Bruce W. Birren, Mark J. Daly, Liuda Ziaugra, Jeff Barrett, Jamie Moore, Amy L. Camargo, Matthew DeFelice, Robert C. Onofrio, Hongbin Zhao, Hui Zhao, Xiaoli Tang, Weitao Hu, Wei Wang, Bo Zhang, Wei Lin, Qingrun Zhang, Siqi Liu, Changqing Zeng, Haoran Hu, Jun Yu, Jun Zhou, Hao Pan, Jian Wang, Yang Gao, Chaohua Li, Jeff Barrett, Richa Saxena, Paul I. W. de Bakker, Yangfan Liu, Shaun Purcell, Steve McCarroll, Mark J. Daly, Zhijian Yao, Yayun Shen, Ying Wang, Weiwei Sun, Yungang He, Xun Chu, Yangfan Liu, Xiaoyan Xiong, Liang Xu, Haifeng Wang, Yi Wang, Jin Li, Stephen Kwok‐Wing Tsui, J. Tze‐Fei Wong, Arthur L. Holden, Martin Leboeuf, Stéphanie Roumy, Kevin L. Gunderson, Arnold Oliphant, Mark S. Chee, Andrei Verner, Michael Phillips, Fanny Chagnon ほか 111 名 - Nature 2007 被引用: 4,608

  2. Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

    著者: Jacob A. Tennessen, Abigail W. Bigham, Timothy D. O’Connor, Wenqing Fu, Eimear E. Kenny, Simon Gravel, Sean McGee, Ron Do, Xiaoming Liu, Goo Jun, Hyun Min Kang, Daniel M. Jordan, Suzanne M. Leal, Stacey Gabriel, Mark J. Rieder, Gonçalo R. Abecasis, David Altshuler, Deborah A. Nickerson, Eric Boerwinkle, Shamil Sunyaev, Carlos D. Bustamante, Michael J. Bamshad, Joshua M. Akey, Broad GO, Seattle GO, on behalf of the NHLBI Exome Sequencing Project - Science 2012 被引用: 1,732

  3. Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

    著者: Bingshan Li, Suzanne M. Leal - The American Journal of Human Genetics 2008 被引用: 1,615

  4. Missing heritability and strategies for finding the underlying causes of complex disease

    著者: Evan E. Eichler, Jonathan Flint, Greg Gibson, Augustine Kong, Suzanne M. Leal, Jason H. Moore, Joseph H. Nadeau - Nature Reviews Genetics 2010 被引用: 1,753

  5. 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

  6. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

    著者: Jessica X. Chong, Kati J. Buckingham, Shalini N. Jhangiani, Corinne D. Boehm, Nara Sobreira, Joshua D. Smith, Tanya M. Harrell, Margaret J. McMillin, Wojciech Wiszniewski, Tomasz Gambin, Zeynep H. Coban Akdemir, Kimberly F. Doheny, Alan F. Scott, Dimitri Avramopoulos, Aravinda Chakravarti, Julie Hoover‐Fong, Debra Mathews, P. Dane Witmer, Hua Ling, Kurt N. Hetrick, Lee Watkins, Karynne Patterson, Frédéric Reinier, Elizabeth Blue, Donna M. Muzny, Martin Kircher, Kaya Bilgüvar, Francesc López‐Giráldez, V. Reid Sutton, Holly K. Tabor, Suzanne M. Leal, Murat Günel, Shrikant Mane, Richard A. Gibbs, Eric Boerwinkle, Ada Hamosh, Jay Shendure, James R. Lupski, Richard P. Lifton, David Valle, Deborah A. Nickerson, Michael J. Bamshad - The American Journal of Human Genetics 2015 被引用: 688

  7. Excess of rare, inherited truncating mutations in autism

    著者: Niklas Krumm, Tychele N. Turner, Carl Baker, Laura Vives, Kiana Mohajeri, Kali Witherspoon, Archana N. Raja, Bradley P. Coe, Holly A.F. Stessman, Zong-Xiao He, Suzanne M. Leal, Raphael Bernier, Evan E. Eichler - Nature Genetics 2015 被引用: 635

  8. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

    著者: Levi B. Watkin, Birthe Jessen, Wojciech Wiszniewski, Timothy J. Vece, Max Jan, Youbao Sha, Maike Thamsen, Regie Lyn P. Santos‐Cortez, Kwanghyuk Lee, Tomasz Gambin, Lisa R. Forbes, Christopher S. Law, Asbjørg Stray‐Pedersen, Mickie Cheng, Emily M. Mace, Mark S. Anderson, Dongfang Liu, Ling Tang, Sarah K. Nicholas, Karen Nahmod, George Makedonas, Debra Canter, Pui–Yan Kwok, John Hicks, Kirk D. Jones, Samantha Penney, Shalini N. Jhangiani, Michael D. Rosenblum, Sharon Dell, Michael Waterfield, Feroz R. Papa, Donna M. Muzny, Noah Zaitlen, Suzanne M. Leal, Claudia Gonzaga‐Jauregui, Eric Boerwinkle, N. Tony Eissa, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Anthony K. Shum - Nature Genetics 2015 被引用: 399

  9. Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

    著者: Emma M. Jenkinson, Atteeq U. Rehman, Tom Walsh, Jill Clayton‐Smith, Kwanghyuk Lee, Robert J. Morell, Meghan C. Drummond, Shaheen N. Khan, Muhammad Asif Naeem, Bushra Rauf, Neil Billington, Julie M. Schultz, Jill Urquhart, Ming K. Lee, Andrew Berry, Neil A. Hanley, Sarju Mehta, Deirdre Cilliers, Peter Clayton, Helen Kingston, Miriam J. Smith, Thomas T. Warner, Graeme C. Black, Dorothy Trump, J.R. Davis, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Mary‐Claire King, Thomas B. Friedman, William G. Newman - The American Journal of Human Genetics 2013 被引用: 245

  10. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

    著者: Wenqing Fu, Timothy D. O’Connor, Goo Jun, Hyun Min Kang, Gonçalo R. Abecasis, Suzanne M. Leal, Stacey Gabriel, Mark J. Rieder, David Altshuler, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, NHLBI Exome Sequencing Project, Joshua M. Akey - Nature 2012 被引用: 1,018

  11. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

    著者: Cathérine Boileau, Dong Guo, Nadine Hanna, Ellen S. Regalado, Delphine Détaint, Limin Gong, Mathilde Varret, Siddharth K. Prakash, Alexander Li, Hyacintha d’Indy, Alan C. Braverman, Bernard Grandchamp, Callie Kwartler, Laurent Gouya, Regie Lyn P. Santos‐Cortez, Marianne Abifadel, Suzanne M. Leal, Christine Muti, Jay Shendure, Marie Sylvie Gross, Mark J. Rieder, Alec Vahanian, Deborah A. Nickerson, Jean Baptiste Michel, Guillaume Jondeau, Dianna M. Milewicz - Nature Genetics 2012 被引用: 379

  12. Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

    著者: David B. Beck, Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Regie Lyn P. Santos‐Cortez, Eloise J. Prijoles, Renee Bend, Boris Keren, Cyril Mignot, Marie‐Christine Nouguès, Katrin Õunap, Tiia Reimand, Sander Pajusalu, Muhammad Zahid, Muhammad Arif Nadeem Saqib, Julien Buratti, Eleanor G. Seaby, Kirsty McWalter, Aida Telegrafi, Dustin Baldridge, Marwan Shinawi, Suzanne M. Leal, G. Bradley Schaefer, Roger E. Stevenson, Siddharth Banka, Roberto Bonasio, Jill A. Fahrner - The American Journal of Human Genetics 2020 被引用: 112

  13. Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

    著者: Dongchuan Guo, Ellen S. Regalado, Darren E. Casteel, Regie Lyn P. Santos‐Cortez, Limin Gong, Jeong Joo Kim, Sarah Dyack, S. Gabrielle Horne, Guijuan Chang, Guillaume Jondeau, Cathérine Boileau, Joseph S. Coselli, Zhenyu Li, Suzanne M. Leal, Jay Shendure, Mark J. Rieder, Michael J. Bamshad, Deborah A. Nickerson, Choel Kim, Dianna M. Milewicz - The American Journal of Human Genetics 2013 被引用: 250

  14. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections

    著者: Dongchuan Guo, Ellen S. Regalado, Limin Gong, Xueyan Duan, Regie Lyn P. Santos‐Cortez, Pauline Arnaud, Zhao Ren, Bo Wen Cai, Ellen M. Hostetler, Rocio Moran, David Liang, Anthony L. Estrera, Hazim J. Safi, Suzanne M. Leal, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Guillaume Jondeau, Cathérine Boileau, Dianna M. Milewicz - Circulation Research 2016 被引用: 214

  15. Genetic linkage analysis in the age of whole-genome sequencing

    著者: Jürg Ott, Jing Wang, Suzanne M. Leal - Nature Reviews Genetics 2015 被引用: 285

  16. Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm

    著者: Tanmoy Roychowdhury, Haocheng Lu, Whitney Hornsby, Bradley Crone, Gao T. Wang, Dongchuan Guo, Anoop K. Sendamarai, Poornima Devineni, Maoxuan Lin, Wei Zhou, Sarah E. Graham, Brooke N. Wolford, Ida Surakka, Zhenguo Wang, Lin Chang, Jifeng Zhang, Michael R. Mathis, Chad M. Brummett, Tori L. Melendez, Michael J. Shea, Karen Meekyong Kim, G. Michael Deeb, Himanshu J. Patel, Jonathan L. Eliason, Kim A. Eagle, Bo Yang, Santhi K. Ganesh, Ben Brumpton, Bjørn Olav Åsvold, Anne Heidi Skogholt, Kristian Hveem, Saiju Pyarajan, Derek Klarin, Philip S. Tsao, Scott M. Damrauer, Suzanne M. Leal, Dianna M. Milewicz, Y. Eugene Chen, Minerva T. Garcia-Barrio, Cristen J. Willer - The American Journal of Human Genetics 2021 被引用: 58

  17. Novel somatic and germline mutations in intracranial germ cell tumours

    著者: Linghua Wang, Shigeru Yamaguchi, Matthew D. Burstein, Keita Terashima, Kyle Chang, Ho‐Keung Ng, Hideo Nakamura, Zongxiao He, HarshaVardhan Doddapaneni, Lora Lewis, Mark L. Wang, Tomonari Suzuki, Ryo Nishikawa, Atsushi Natsume, Shunsuke Terasaka, Robert Dauser, William E. Whitehead, Adesina Adekunle, Jiayi M. Sun, Yi Qiao, Gábor Marth, Donna M. Muzny, Richard A. Gibbs, Suzanne M. Leal, David A. Wheeler, Ching C. Lau - Nature 2014 被引用: 225

  18. RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease

    著者: Alana C. Cecchi, Dongchuan Guo, Zhao Ren, Kelly Flynn, Regie Lyn P. Santos‐Cortez, Suzanne M. Leal, Gao T. Wang, Ellen S. Regalado, Gary K. Steinberg, Jay Shendure, Michael J. Bamshad, James C. Grotta, Deborah A. Nickerson, Hariyadarshi Pannu, Dianna M. Milewicz - Stroke 2014 被引用: 152

  19. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

    著者: Patrícia B. S. Celestino-Soper, Sara Violante, Emily L. Crawford, Rui Luo, Anath C. Lionel, Elsa Delaby, Guiqing Cai, Bekim Sadiković, Kwanghyuk Lee, Charlene Lo, Kun Gao, Richard Person, Timothy J. M. Moss, Jennifer R. German, Ni Huang, Marwan Shinawi, Diane Treadwell‐Deering, Péter Szatmári, Wendy Roberts, Bridget A. Fernandez, Richard J. Schroer, Roger E. Stevenson, Joseph D. Buxbaum, Catalina Betancur, Stephen W. Scherer, Stephan Sanders, Daniel H. Geschwind, James S. Sutcliffe, Matthew E. Hurles, Ronald J. A. Wanders, Chad A. Shaw, Suzanne M. Leal, Edwin H. Cook, Robin P. Goin‐Kochel, Frédéric M. Vaz, Arthur L. Beaudet - National Academy of Sciences, Proceedings of the National Academy of Sciences 2012 被引用: 142

  20. Mutation of ATF6 causes autosomal recessive achromatopsia

    著者: Muhammad Ansar, Regie Lyn P. Santos‐Cortez, Muhammad Arif Nadeem Saqib, Fareeha Zulfiqar, Kwanghyuk Lee, Naeem Mahmood Ashraf, Ehsan Ullah, Xin Wang, Sundus Sajid, Falak Sher Khan, Muhammad Aminuddin, Joshua D. Smith, Jay Shendure, Michael J. Bamshad, Deborah A. Nickerson, Abdul Hameed, Saima Riazuddin, Zubair M. Ahmed, Wasim Ahmad, Suzanne M. Leal - Human Genetics 2015 被引用: 84

  21. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

    著者: Saima Riazuddin, Inna A. Belyantseva, Arnaud P. J. Giese, Kwanghyuk Lee, Artur A. Indzhykulian, Sri Pratima Nandamuri, Rizwan Yousaf, Ghanshyam P. Sinha, Sue Lee, David Terrell, Rashmi S. Hegde, Rana A. Ali, Saima Anwar, Paula B. Andrade-Elizondo, Aslı Sırmacı, Leslie V. Parise, Sulman Basit, Abdul Wali, Muhammad Ayub, Muhammad Ansar, Wasim Ahmad, Shaheen N. Khan, Javed Akram, Mustafa Tekin, Sheikh Riazuddin, Tiffany Cook, Elke K. Buschbeck, Gregory I. Frolenkov, Suzanne M. Leal, Thomas B. Friedman, Zubair M. Ahmed - Nature Genetics 2012 被引用: 249

  22. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1

    著者: Scott A. LeMaire, Merry‐Lynn McDonald, Dong-Chuan Guo, Ludivine Russell, Charles C. Miller, Ralph J. Johnson, Mir Reza Bekheirnia, Luis M. Franco, Mary Nguyen, Reed E. Pyeritz, Joseph E. Bavaria, Richard B. Devereux, Cheryl L. Maslen, Kathryn W. Holmes, Kim A. Eagle, Simon C. Body, Christine E. Seidman, Jonathan G. Seidman, Eric M. Isselbacher, Molly S. Bray, Joseph S. Coselli, Anthony L. Estrera, Hazim J. Safi, John W. Belmont, Suzanne M. Leal, Dianna M. Milewicz - Nature Genetics 2011 被引用: 219

  23. Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology

    著者: Lorraine N. Clark, Yizhe Gao, Gao T. Wang, Nora Hernández, Allison E. Ashley‐Koch, Joseph Jankovic, Ruth Ottman, Suzanne M. Leal, Sandra Mónica Rodríguez, Elan D. Louis - EBioMedicine 2022 被引用: 31

  24. Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

    著者: Vladimir Vacic, Shane McCarthy, Dheeraj Malhotra, Fiona Murray, Hsun-Hua Chou, Áine Peoples, Vladimir Makarov, Seungtai Yoon, Abhishek Bhandari, Roser Corominas, Lilia M. Iakoucheva, Olga Krastoshevsky, Verena Krause, James Walters, David K. Welsh, David W. Craig, John R. Kelsoe, Elliot S. Gershon, Suzanne M. Leal, Marie Dell Aquila, Derek W. Morris, Michael Gill, Aiden Corvin, Paul A. Insel, Jon McClellan, Mary‐Claire King, Maria Karayiorgou, Deborah L. Levy, Lynn E. DeLisi, Jonathan Sebat - Nature 2011 被引用: 332