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Michael J. Bamshad

1995–2025 年に発表

別表記
Michael J Bamshad
196
論文数
41,027
被引用数
97
h 指数
192
i10 指数

被引用数

Michael J. Bamshad の年別被引用数1955 年: 被引用 1 件1972 年: 被引用 2 件1987 年: 被引用 1 件1991 年: 被引用 1 件1994 年: 被引用 1 件1996 年: 被引用 8 件1997 年: 被引用 28 件1998 年: 被引用 54 件1999 年: 被引用 60 件2000 年: 被引用 100 件2001 年: 被引用 132 件2002 年: 被引用 126 件2003 年: 被引用 129 件2004 年: 被引用 190 件2005 年: 被引用 218 件2006 年: 被引用 218 件2007 年: 被引用 208 件2008 年: 被引用 186 件2009 年: 被引用 181 件2010 年: 被引用 360 件2011 年: 被引用 458 件2012 年: 被引用 467 件2013 年: 被引用 637 件2014 年: 被引用 540 件2015 年: 被引用 572 件2016 年: 被引用 565 件2017 年: 被引用 513 件2018 年: 被引用 431 件2019 年: 被引用 1,233 件2020 年: 被引用 1,165 件2021 年: 被引用 1,159 件2022 年: 被引用 897 件2023 年: 被引用 604 件2024 年: 被引用 934 件2025 年: 被引用 425 件2026 年: 被引用 19 件1956〜1971 年は被引用が無いため表示していません1973〜1986 年は被引用が無いため表示していません1988〜1990 年は被引用が無いため表示していません1992〜1993 年は被引用が無いため表示していません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 6,004 件、この内訳の 26.7%イギリス: 引用元論文 1,873 件、この内訳の 8.3%ドイツ: 引用元論文 1,238 件、この内訳の 5.5%中国: 引用元論文 1,086 件、この内訳の 4.8%フランス: 引用元論文 1,014 件、この内訳の 4.5%カナダ: 引用元論文 967 件、この内訳の 4.3%イタリア: 引用元論文 855 件、この内訳の 3.8%オランダ: 引用元論文 818 件、この内訳の 3.6%オーストラリア: 引用元論文 723 件、この内訳の 3.2%スペイン: 引用元論文 600 件、この内訳の 2.7%日本: 引用元論文 502 件、この内訳の 2.2%スイス: 引用元論文 383 件、この内訳の 1.7%
0%26.7%その他 28.7%

機関

分野

  • Biochemistry, Genetics and Molecular Biology65.1%
  • Medicine22.2%
  • Neuroscience3.6%
  • Immunology and Microbiology2.8%
  • Agricultural and Biological Sciences1.4%
  • Nursing1.1%
  • その他3.8%

トピック

  • Genomics and Rare Diseases7.1%
  • Genetic Associations and Epidemiology3.8%
  • Genomic variations and chromosomal abnormalities3.8%
  • Genomics and Phylogenetic Studies2.9%
  • Forensic and Genetic Research2.4%
  • Cancer Genomics and Diagnostics2.3%
  • その他77.7%

共著者

全論文

検索で開く
  1. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

    著者: Swapan Mallick, Heng Li, Mark Lipson, Iain Mathieson, Melissa Gymrek, Fernando Racimo, Mengyao Zhao, Niru Chennagiri, Susanne Nordenfelt, Arti Tandon, Pontus Skoglund, Iosif Lazaridis, Sriram Sankararaman, Qiaomei Fu, Nadin Rohland, Gabriel Renaud, Yaniv Erlich, Thomas Willems, Carla Gallo, Jeffrey P. Spence, Yun S. Song, Giovanni Poletti, François Balloux, George van Driem, Peter de Knijff, Irene Gallego Romero, Aashish R. Jha, Doron M. Behar, Cláudio M. Bravi, Cristian Capelli, Tor Hervig, Andrés Moreno‐Estrada, Olga L. Posukh, Elena Balanovska, Oleg Balanovsky, Sena Karachanak-Yankova, Hovhannes Sahakyan, Драга Тончева, Levon Yepiskoposyan, Chris Tyler‐Smith, Yali Xue, Muhammad Syafiq Abdullah, Andrés Ruiz‐Linares, Cynthia M. Beall, Anna Di Rienzo, Choongwon Jeong, Elena B. Starikovskaya, Ene Metspalu, Jüri Parik, Richard Villems, Brenna M. Henn, Uğur Hodoğlugil, Robert W. Mahley, Antti Sajantila, George Stamatoyannopoulos, Joseph Wee, Р. И. Хусаинова, Э. К. Хуснутдинова, Sergey Litvinov, George Ayodo, David Comas, Michael F. Hammer, Toomas Kivisild, William Klitz, Cheryl A. Winkler, Damian Labuda, Michael J. Bamshad, Lynn B. Jorde, Sarah A. Tishkoff, W. Scott Watkins, Mait Metspalu, Stanislav Dryomov, R. I. Sukernik, Lalji Singh, Kumarasamy Thangaraj, Svante Pääbo, Janet Kelso, Nick Patterson, David Reich - Nature 2016 被引用: 1,797

  2. Targeted long-read sequencing identifies missing disease-causing variation

    著者: Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P. Almanza Fuerte, Catherine R. Paschal, Tom Walsh, Jenny Thies, James T. Bennett, Ian A. Glass, Katrina M. Dipple, Karynne Patterson, Emily Bonkowski, Zoe Nelson, Audrey Squire, Megan Sikes, Erika Beckman, Robin L. Bennett, Dawn Earl, Winston Lee, Rando Allikmets, Seth J. Perlman, Penny Chow, Anne Hing, Tara Wenger, Margaret P Adam, Angela Sun, Christina Lam, Irene J. Chang, Xue Zou, Stephanie Austin, Erin Huggins, Alexias Safi, Apoorva K. Iyengar, Timothy E. Reddy, William H. Majoros, Andrew S. Allen, Gregory E. Crawford, Priya S. Kishnani, Mary‐Claire King, Tim Cherry, Jessica X. Chong, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Dan Doherty, Evan E. Eichler - The American Journal of Human Genetics 2021 被引用: 239

  3. Mendelian Gene Discovery: Fast and Furious with No End in Sight

    著者: Michael J. Bamshad, Deborah A. Nickerson, Jessica X. Chong - The American Journal of Human Genetics 2019 被引用: 263

  4. Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

    著者: Seunggeun Lee, Mary J. Emond, Michael J. Bamshad, Kathleen C. Barnes, Mark J. Rieder, Deborah A. Nickerson, David C. Christiani, Mark M. Wurfel, Xihong Lin - The American Journal of Human Genetics 2012 被引用: 1,143

  5. 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

  6. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    著者: Kym M. Boycott, Ana Rath, Jessica X. Chong, Taila Hartley, Fowzan S. Alkuraya, Gareth Baynam, Anthony J. Brookes, Michael Brudno, Ángel Carracedo, Johan T. den Dunnen, Stephanie O. M. Dyke, Xavier Estivill, Jack Goldblatt, Catherine Gonthier, Stephen C. Groft, Marta Gut, Ada Hamosh, Philip Hieter, Sophie Höhn, Matthew E. Hurles, Petra Kaufmann, Bartha Maria Knoppers, Jeffrey P. Krischer, Milan Maçek, Gert Matthijs, Annie Olry, Samantha Parker, Justin Paschall, Anthony Philippakis, Heidi L. Rehm, Peter N. Robinson, Pak C. Sham, Румен Стефанов, Domenica Taruscio, Divya Unni, Megan R. Vanstone, Feng Zhang, Han G. Brunner, Michael J. Bamshad, Hanns Lochmüller - The American Journal of Human Genetics 2017 被引用: 453

  7. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

    著者: Sarah Ng, Abigail W. Bigham, Kati J. Buckingham, Mark Hannibal, Margaret J. McMillin, Heidi Gildersleeve, Anita E. Beck, Holly K. Tabor, Gregory M. Cooper, Heather C Mefford, Choli Lee, Emily H. Turner, Joshua D. Smith, Mark J. Rieder, Koh-ichiro Yoshiura, Naomichi Matsumoto, Tohru Ohta, Norio Niikawa, Deborah A. Nickerson, Michael J. Bamshad, Jay Shendure - Nature Genetics 2010 被引用: 1,355

  8. Exome sequencing as a tool for Mendelian disease gene discovery

    著者: Michael J. Bamshad, Sarah Ng, Abigail W. Bigham, Holly K. Tabor, Mary J. Emond, Deborah A. Nickerson, Jay Shendure - Nature Reviews Genetics 2011 被引用: 1,685

  9. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

    著者: Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Judit Balog, Gregory J. Block, Gijs W.E. Santen, Amanda M. Amell, Patrick J. van der Vliet, Rowida Almomani, Kirsten R. Straasheijm, Yvonne D. Krom, Rinse Klooster, Yu Sun, Johan T. den Dunnen, Quinta Helmer, Colleen M. Donlin‐Smith, George W. Padberg, Baziel G.M. van Engelen, Jessica C. de Greef, Annemieke Aartsma‐Rus, Rune R. Frants, Marianne de Visser, Claude Desnuelle, Sabrina Sacconi, Galina N. Filippova, Egbert Bakker, Michael J. Bamshad, Stephen J. Tapscott, Daniel G. Miller, Silvère M. van der Maarel - Nature Genetics 2012 被引用: 664

  10. 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

  11. Targeted capture and massively parallel sequencing of 12 human exomes

    著者: Sarah Ng, Emily H. Turner, Peggy D. Robertson, Steven Flygare, Abigail W. Bigham, Choli Lee, Tristan Shaffer, Michelle Wong, Arindam Bhattacharjee, Evan E. Eichler, Michael J. Bamshad, Deborah A. Nickerson, Jay Shendure - Nature 2009 被引用: 2,055

  12. Global diversity, population stratification, and selection of human copy-number variation

    著者: Peter H. Sudmant, Swapan Mallick, Bradley J. Nelson, Fereydoun Hormozdiari, Niklas Krumm, John Huddleston, Bradley P. Coe, Carl Baker, Susanne Nordenfelt, Michael J. Bamshad, Lynn B. Jorde, Olga L. Posukh, Hovhannes Sahakyan, W. Scott Watkins, Levon Yepiskoposyan, Muhammad Syafiq Abdullah, Cláudio M. Bravi, Cristian Capelli, Tor Hervig, Joseph Wee, Chris Tyler‐Smith, George van Driem, Irene Gallego Romero, Aashish R. Jha, Sena Karachanak-Yankova, Драга Тончева, David Comas, Brenna M. Henn, Toomas Kivisild, Andrés Ruiz‐Linares, Antti Sajantila, Ene Metspalu, Jüri Parik, Richard Villems, Elena B. Starikovskaya, George Ayodo, Cynthia M. Beall, Anna Di Rienzo, Michael F. Hammer, Р. И. Хусаинова, Э. К. Хуснутдинова, William Klitz, Cheryl A. Winkler, Damian Labuda, Mait Metspalu, Sarah A. Tishkoff, Stanislav Dryomov, R. I. Sukernik, Nick Patterson, David Reich, Evan E. Eichler - Science 2015 被引用: 378

  13. Centers for Mendelian Genomics: A decade of facilitating gene discovery

    著者: Samantha Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth Blue, Lisa H. Chadwick, Zeynep Coban‐Akdemir, Kimberly F. Doheny, Colleen Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Marcia Adams, François Aguet, Gülsen Akay, Peter Anderson, Corina Antonescu, Harindra Arachchi, Mehmed M. Atik, Christina Austin‐Tse, Larry Babb, Tamara Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilgüvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel G. Calame, Ian M. Campbell, Xiaolong Cao, Claudia M.B. Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Iván K. Chinn, Declan Clarke, Ryan L. Collins, Beryl B. Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad K. Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid M. Fatih, Adam L. Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga‐Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey Hall, Adam Hansen, Tamar Harel, Arif Harmanci, Isabella Herman, Kurt N. Hetrick ほか 142 名 - Genetics in Medicine 2022 被引用: 80

  14. Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

    著者: Jared C. Roach, Gustavo Glusman, Arian F. A. Smit, Chad D. Huff, Robert Hubley, Paul Shannon, Lee Rowen, Krishna Prasad Pant, Nathan Goodman, Michael J. Bamshad, Jay Shendure, Radoje Drmanac, Lynn B. Jorde, Leroy Hood, David J. Galas - Science 2010 被引用: 1,127

  15. 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

  16. Exome sequencing identifies the cause of a mendelian disorder

    著者: Sarah Ng, Kati J. Buckingham, Choli Lee, Abigail W. Bigham, Holly K. Tabor, Karin M. Dent, Chad D. Huff, Paul Shannon, Ethylin Wang Jabs, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad - Nature Genetics 2009 被引用: 1,939

  17. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

    著者: Ron Do, Nathan O. Stitziel, Hong‐Hee Won, Anders Berg Jørgensen, Stefano Duga, Pier Angelica Merlini, Adam Kieżun, Martin Farrall, Anuj Goel, Or Zuk, I. Guella, Rosanna Asselta, Leslie A. Lange, Gina M. Peloso, Paul L. Auer, NHLBI Exome Sequencing Project, Domenico Girelli, Nicola Martinelli, Deborah Farlow, Mark A. DePristo, Robert Roberts, Alexander F. R. Stewart, Danish Saleheen, John Danesh, Stephen E. Epstein, Suthesh Sivapalaratnam, G. Kees Hovingh, John J.P. Kastelein, Nilesh J. Samani, Heribert Schunkert, Jeanette Erdmann, Svati H. Shah, William E. Kraus, R. W. Davies, Majid Nikpay, Christopher T. Johansen, Jian Wang, Robert A. Hegele, Eliana Hechter, Winfried März, Marcus E. Kleber, Jie Huang, Andrew D. Johnson, Mingyao Li, Greg Burke, Myron D. Gross, Ching‐Ti Liu, Themistocles L. Assimes, Gerardo Heiss, Ethan M. Lange, Aaron R. Folsom, Herman A. Taylor, Oliviero Olivieri, Anders Hamsten, Robert Clarke, Dermot F. Reilly, Yin Wu, Manuel A. Rivas, Peter Donnelly, Jacques E. Rossouw, Bruce M. Psaty, David M. Herrington, James G. Wilson, Stephen S. Rich, Michael J. Bamshad, Russell P. Tracy, L. Adrienne Cupples, Daniel J. Rader, Muredach P. Reilly, John A. Spertus, Sharon Cresci, Jaana Hartiala, W.H. Wilson Tang, Stanley L. Hazen, Hooman Allayee, Alex P. Reiner, Christopher S. Carlson, Charles Kooperberg, Rebecca D. Jackson, Eric Boerwinkle, Eric S. Lander, Stephen M. Schwartz, David S. Siscovick, Ruth McPherson, Anne Tybjærg‐Hansen, Gonçalo R. Abecasis, Hugh Watkins, Deborah A. Nickerson, Diego Ardissino, Shamil Sunyaev, Christopher J. O’Donnell, David Altshuler, Stacey Gabriel, Sekar Kathiresan - Nature 2014 被引用: 682

  18. Somatic Mutations in Cerebral Cortical Malformations

    著者: Saumya Shekhar Jamuar, Anh-Thu N. Lam, Martin Kircher, Alissa M. D’Gama, Jian Wang, Brenda J. Barry, Xiaochang Zhang, Robert Hill, Jennifer N. Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K. Mehta, Meral Topçu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E. Scheffer, Samuel F. Berkovic, Richard J. Leventer, Yiping Shen, Bai Lin Wu, A. James Barkovich, Mustafa Şahin, Bernard S. Chang, Michael J. Bamshad, Deborah A. Nickerson, Jay Shendure, Annapurna Poduri, Timothy W. Yu, Christopher A. Walsh - New England Journal of Medicine 2014 被引用: 394

  19. Paralog Studies Augment Gene Discovery: DDX and DHX Genes

    著者: Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski, Shalini N. Jhangiani, Sarah Rosenheck, Robert Kleyner, Taylor Marmorale, Margaret S. Yoon, Kai Wang, Reid Robison, Gerarda Cappuccio, Michele Pinelli, Adriano Magli, Zeynep Coban‐Akdemir, Joannie Hui, Wai Lan Yeung, Bibiana K. Y. Wong, Lucia Ortega, Mir Reza Bekheirnia, Tatjana Bierhals, Maja Hempel, Jessika Johannsen, René Santer, Dilek Aktaş, Mehmet Alikaşifoğlu, Sevcan Tuğ Bozdoğan, Hatip Aydın, Ender Karaca, Yavuz Bayram, Hadas Ityel, Michael O. Dorschner, Janson J. White, Ekkehard Wilichowski, Saskia B. Wortmann, Erasmo Barbante Casella, João Paulo Kitajima, Fernando Kok, Fabíola Paoli Monteiro, Donna M. Muzny, Michael J. Bamshad, Richard A. Gibbs, V. Reid Sutton, Hilde Van Esch, Nicola Brunetti‐Pierri, Friedhelm Hildebrandt, Ariel Brautbar, Ignatia B. Van den Veyver, Ian A. Glass, Davor Lessel, Gholson J. Lyon, James R. Lupski - The American Journal of Human Genetics 2019 被引用: 116

  20. De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

    著者: Michael D. Kessler, Douglas P. Loesch, James A. Perry, Nancy L. Heard‐Costa, Daniel Taliun, Brian E. Cade, Heming Wang, Michelle Daya, John Ziniti, Soma Datta, Juan C. Celedón, Manuel E. Soto-Quirós, Lydiana Ávila, Scott T. Weiss, Kathleen C. Barnes, Susan Redline, Ramachandran S. Vasan, Andrew D. Johnson, Rasika A. Mathias, Ryan D. Hernandez, James G. Wilson, Deborah A. Nickerson, Gonçalo R. Abecasis, Sharon R. Browning, Sebastian Zöllner, Jeffrey R. O’Connell, Braxton D. Mitchell, TOPMed Population Genetics Working Group, Timothy D. O’Connor, Sanne E. Aalbers, Moustafa Abdalla, Omar Abdul‐Rahman, Gonçalo R. Abecasis, Avinash Abhyankar, Indra Adrianto, François Aguet, Rachel Akers, Rafet Al-Tobasei, Christine M. Albert, Micheala A. Aldred, Laura Almasy, Márcio Rodrigues de Almeida, Álvaro Alonso, Seth A. Ament, Elizabeth Ampleford, Ping An, Christopher D. Anderson, Charlotte Andersson, Pramod Anugu, Elizabeth L. Appelbaum, Kristin Ardlie, Dan Arking, Sebastian M. Armasu, Donna K. Arnett, Heather T Arruda, Marios Arvanitis, Allison E. Ashley‐Koch, Aneel A. Ashrani, Stella Aslibekyan, Tim Assimes, Elizabeth J. Atkinson, Paul L. Auer, Thomas R. Austin, Christy L. Avery, Julián Ávila-Pacheco, Paul Avillach, Abraham Aviv, Dimitrios Avramopoulos, Christie M. Ballantyne, Pallavi Balte, Michael J. Bamshad, Mike Bancks, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Traci M. Bartz, Lucas Barwick, Saonli Basu, Alexis Battle, Michaël Baumann, David Beame, Terri Beaty, Gerald J. Beck, Lewis C. Becker, Diane M. Becker, Rebecca Beer, Ferdouse Begum, Alexa Beiser, Amber L. Beitelshees, Emelia J. Benjamin, Takis Benos, Hanna Berk-Rauch, Zachary M Besich, Marcos Bezerra, Surya P. Bhatt, Wenjian Bi, Alexander G. Bick, Larry Bielak, Mary L. Biggs ほか 1,045 名 - National Academy of Sciences, Proceedings of the National Academy of Sciences 2020 被引用: 112

  21. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

    著者: Emma Tonkin, Tzu-Jou Wang, Steven Lisgo, Michael J. Bamshad, Tom Strachan - Nature Genetics 2004 被引用: 597

  22. 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

  23. Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

    著者: Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi Gildersleeve, Mariana Aracena, Arthur S. Aylsworth, Pierre Bitoun, John C. Carey, Carol L. Clericuzio, Yanick J. Crow, Cynthia J. Curry, Koenraad Devriendt, David B. Everman, Alan Fryer, Kate Gibson, Maria Luisa Giovannucci Uzielli, John M. Graham, Judith G. Hall, Jacqueline T. Hecht, Randall A. Heidenreich, Jane A. Hurst, Sarosh R. Irani, Ingrid P.C. Krapels, Jules G. Leroy, David Mowat, Gordon T. Plant, Stephen P. Robertson, Elizabeth K. Schorry, Richard H. Scott, Laurie H. Seaver, Elliott H. Sherr, Miranda Splitt, Helen Stewart, Constance T. R. M. Stumpel, Şehime Gülsün Temel, David D. Weaver, Margo Whiteford, Marc S. Williams, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad - The American Journal of Human Genetics 2014 被引用: 218

  24. 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