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Shrikant Mane

1989–2025 年に発表

133
論文数
42,976
被引用数
82
h 指数
130
i10 指数

被引用数

Shrikant Mane の年別被引用数1955 年: 被引用 2 件1980 年: 被引用 1 件1981 年: 被引用 1 件1987 年: 被引用 1 件1989 年: 被引用 2 件1990 年: 被引用 4 件1991 年: 被引用 8 件1992 年: 被引用 11 件1993 年: 被引用 10 件1994 年: 被引用 12 件1995 年: 被引用 8 件1996 年: 被引用 7 件1997 年: 被引用 4 件1998 年: 被引用 7 件1999 年: 被引用 6 件2000 年: 被引用 2 件2001 年: 被引用 4 件2002 年: 被引用 2 件2003 年: 被引用 16 件2004 年: 被引用 14 件2005 年: 被引用 57 件2006 年: 被引用 121 件2007 年: 被引用 150 件2008 年: 被引用 142 件2009 年: 被引用 166 件2010 年: 被引用 292 件2011 年: 被引用 435 件2012 年: 被引用 592 件2013 年: 被引用 678 件2014 年: 被引用 720 件2015 年: 被引用 654 件2016 年: 被引用 645 件2017 年: 被引用 663 件2018 年: 被引用 638 件2019 年: 被引用 1,600 件2020 年: 被引用 1,638 件2021 年: 被引用 1,667 件2022 年: 被引用 1,338 件2023 年: 被引用 894 件2024 年: 被引用 1,222 件2025 年: 被引用 498 件2026 年: 被引用 21 件1956〜1979 年は被引用が無いため表示していません1982〜1986 年は被引用が無いため表示していません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 7,055 件、この内訳の 29.7%イギリス: 引用元論文 1,824 件、この内訳の 7.7%中国: 引用元論文 1,584 件、この内訳の 6.7%ドイツ: 引用元論文 1,341 件、この内訳の 5.6%フランス: 引用元論文 1,011 件、この内訳の 4.2%カナダ: 引用元論文 971 件、この内訳の 4.1%イタリア: 引用元論文 911 件、この内訳の 3.8%オランダ: 引用元論文 780 件、この内訳の 3.3%オーストラリア: 引用元論文 745 件、この内訳の 3.1%日本: 引用元論文 613 件、この内訳の 2.6%スペイン: 引用元論文 554 件、この内訳の 2.3%スイス: 引用元論文 492 件、この内訳の 2.1%
0%29.7%その他 24.8%

機関

分野

  • Biochemistry, Genetics and Molecular Biology47.7%
  • Medicine33.7%
  • Neuroscience10.7%
  • Immunology and Microbiology4%
  • Psychology1.1%
  • Agricultural and Biological Sciences1%
  • その他1.8%

トピック

  • Genetics and Neurodevelopmental Disorders3.5%
  • Genomics and Rare Diseases3.1%
  • Autism Spectrum Disorder Research2.9%
  • Genomic variations and chromosomal abnormalities2.3%
  • Genetic Associations and Epidemiology2.2%
  • Congenital heart defects research2%
  • その他84%

共著者

全論文

検索で開く
  1. Spatio-temporal transcriptome of the human brain

    著者: Hyo Jung Kang, Yuka Imamura Kawasawa, Feng Cheng, Ying Zhu, Xuming Xu, Mingfeng Li, André M. M. Sousa, Mihovil Pletikos, Kyle A. Meyer, Goran Sedmak, Tobias Guennel, Yurae Shin, Matthew B. Johnson, Željka Krsnik, Simone Mayer, Sofia Fertuzinhos, Sheila Umlauf, Steven Lisgo, Alexander O. Vortmeyer, Daniel R. Weinberger, Shrikant Mane, Thomas M. Hyde, Anita Hüttner, Mark Reimers, Joel E. Kleinman, Nenad Šestan - Nature 2011 被引用: 2,222

  2. Complement Factor H Polymorphism in Age-Related Macular Degeneration

    著者: Robert J. Klein, Caroline J. Zeiss, Emily Y. Chew, Jen-Yue Tsai, Richard S. Sackler, Chad Haynes, Alice K. Henning, John Paul SanGiovanni, Shrikant Mane, Susan T. Mayne, Michael B. Bracken, Frederick L. Ferris, Jürg Ott, Colin J. Barnstable, Josephine Hoh - Science 2005 被引用: 4,530

  3. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

    著者: Stephan Sanders, Xin He, A. Jeremy Willsey, A. Gulhan Ercan‐Sencicek, Kaitlin E. Samocha, A. Ercüment Çiçek, Michael T. Murtha, Vanessa H. Bal, Somer Bishop, Shan Dong, Arthur P. Goldberg, Jinlu Cai, John F. Keaney, Lambertus Klei, Jeffrey D. Mandell, Daniel Moreno‐De‐Luca, Christopher S. Poultney, Elise Robinson, Louw Smith, Tor Solli-Nowlan, Mack Y. Su, Nicole A. Teran, Michael F. Walker, Donna M. Werling, Arthur L. Beaudet, Rita M. Cantor, Éric Fombonne, Daniel H. Geschwind, Dorothy E. Grice, Catherine Lord, Jennifer K. Lowe, Shrikant Mane, Donna M. Martin, Eric M. Morrow, Michael E. Talkowski, James S. Sutcliffe, Christopher A. Walsh, Timothy W. Yu, David H. Ledbetter, Christa Lese Martin, Edwin H. Cook, Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Matthew W. State - Neuron 2015 被引用: 1,547

  4. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

    著者: Sheng Chih Jin, Jason Homsy, Samir Zaidi, Qiongshi Lu, Sarah U. Morton, Steven R. DePalma, Xue Zeng, Hongjian Qi, Wen-I Chang, Michael C. Sierant, Wei-Chien Hung, Shozeb Haider, Junhui Zhang, James Knight, Robert Bjornson, Christopher Castaldi, Irina R Tikhonoa, Kaya Bilgüvar, Shrikant Mane, Stephan Sanders, Seema Mital, Mark W. Russell, J. William Gaynor, John Deanfield, Anna Giardini, George A. Porter, Deepak Srivastava, Cecilia Lo, Yufeng Shen, W. Scott Watkins, Mark Yandell, H. Joseph Yost, Martin Tristani‐Firouzi, Jane W. Newburger, Amy E. Roberts, Richard Kim, Hongyu Zhao, Jonathan R. Kaltman, Elizabeth Goldmuntz, Wendy K. Chung, Jonathan G. Seidman, Bruce D. Gelb, Christine E. Seidman, Richard P. Lifton, Martina Brueckner - Nature Genetics 2017 被引用: 928

  5. De novo mutations revealed by whole-exome sequencing are strongly associated with autism

    著者: Stephan Sanders, Michael T. Murtha, Abha R. Gupta, John D. Murdoch, Melanie J. Raubeson, A. Jeremy Willsey, A. Gulhan Ercan‐Sencicek, Nicholas M. DiLullo, Neelroop Parikshak, Jason L. Stein, Michael F. Walker, G Ober, Nicole A. Teran, Youeun Song, Paul El-Fishawy, Ryan Murtha, Murim Choi, John D. Overton, Robert Bjornson, Nicholas Carriero, Kyle A. Meyer, Kaya Bilgüvar, Shrikant Mane, Nenad Šestan, Richard P. Lifton, Murat Günel, Kathryn Roeder, Daniel H. Geschwind, Bernie Devlin, Matthew W. State - Nature 2012 被引用: 2,183

  6. Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

    著者: A. Jeremy Willsey, Stephan Sanders, Mingfeng Li, Shan Dong, Andrew T.N. Tebbenkamp, Rebecca Muhle, Steven K. Reilly, Leon C. W. Lin, Sofia Fertuzinhos, Jeremy A. Miller, Michael T. Murtha, Candace Bichsel, Wei Niu, Justin Cotney, A. Gulhan Ercan‐Sencicek, Jake Gockley, Abha R. Gupta, Wenqi Han, Xin He, Ellen J. Hoffman, Lambertus Klei, Jing Lei, Wenzhong Liu, Li Liu, Cong Lu, Xuming Xu, Ying Zhu, Shrikant Mane, Ed S. Lein, Liping Wei, James P. Noonan, Kathryn Roeder, Bernie Devlin, Nenad Šestan, Matthew W. State - Cell 2013 被引用: 1,000

  7. X-linked recessive TLR7 deficiency in 1% of men under 60 years old with life-threatening COVID-19

    著者: Takaki Asano, Bertrand Boisson, Fanny Onodi, Daniela Matuozzo, Marcela Moncada‐Vélez, Majistor Raj Luxman Maglorius Renkilaraj, Peng Zhang, Laurent Meertens, Alexandre Bolze, Marie Materna, Sarantis Korniotis, Adrian Gervais, Estelle Talouarn, Benedetta Bigio, Yoann Seeleuthner, Kaya Bilgüvar, Yu Zhang, Anna‐Lena Neehus, Masato Ogishi, Simon J. Pelham, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Pere Soler‐Palacín, Roger Colobrán, Andrea Martín-Nalda, Jacques G. Rivière, Yacine Tandjaoui-Lambiotte, Khalil Chaïbi, Mohammad Shahrooei, Ilad Alavi Darazam, Nasrin Alipour Olyaei, Davood Mansouri, Nevin Hatipoğlu, Figen Palabıyık, Tayfun Özçelık, Giuseppe Novelli, Antonio Novelli, Giorgio Casari, Alessandro Aiuti, Paola Carrera, Simone Bondesan, Federica Barzaghi, Patrizia Rovere-Querini, Cristina Tresoldi, José Luis Franco, Julian Rojas, Luis Felipe Reyes, Ingrid G. Bustos, Andrés A. Arias, Guillaume Morelle, Christèle Kyheng, Jesús Troya, Laura Planas‐Serra, Agatha Schlüter, Marta Gut, Aurora Pujol, Luís M. Allende, Carlos Rodríguez‐Gallego, Carlos Flores, Óscar Cabrera-Marante, Daniel E. Pleguezuelo, Rebeca Pérez de Diego, Sevgi Keleş, Gökhan Aytekіn, Özge Metin Akcan, Yenan T. Bryceson, Peter Bergman, Petter Brodin, Daniel Smole, Smith Rjh, Anna-Carin Norlin, Tessa M. Campbell, Laura Covill, Lennart Hammarström, Qiang Pan‐Hammarström, Hassan Abolhassani, Shrikant Mane, Nico Marr, Manar Ata, Fatima Al Ali, Taushif Khan, András N. Spaan, Clifton L. Dalgard, Paolo Bonfanti, Andrea Biondi, Sarah Tubiana, Charles Burdet, Robert L. Nussbaum, Amanda Kahn-Kirby, Andrew L. Snow, COVID Human Genetic Effort, Imagine COVID Group, French COVID Cohort Study Group, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Jacinta Bustamante, Anne Puel, Stéphanie Boisson‐Dupuis ほか 13 名 - Science Immunology 2021 被引用: 420

  8. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

    著者: Jason Homsy, Samir Zaidi, Yufeng Shen, James S. Ware, Kaitlin E. Samocha, Konrad J. Karczewski, Steven R. DePalma, David McKean, Hiroko Wakimoto, Josh Gorham, Sheng Chih Jin, John Deanfield, Anna Giardini, George A. Porter, Richard Kim, Kaya Bilgüvar, Francesc López‐Giráldez, Irina Tikhonova, Shrikant Mane, Angela Romano-Adesman, Hongjian Qi, Badri N. Vardarajan, Lijiang Ma, Mark J. Daly, Amy E. Roberts, Mark W. Russell, Seema Mital, Jane W. Newburger, J. William Gaynor, Roger E. Breitbart, Ivan Iossifov, Michael Ronemus, Stephan Sanders, Jonathan R. Kaltman, Jonathan G. Seidman, Martina Brueckner, Bruce D. Gelb, Elizabeth Goldmuntz, Richard P. Lifton, Christine E. Seidman, Wendy K. Chung - Science 2015 被引用: 910

  9. Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

    著者: Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Rémi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordán, Şefika Elmas Bozdemir, Gülsüm İclal Bayhan, Camille Beaufils, Lucy Bizien, Aurélie Bisiaux, Wei‐Te Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M. Luna, Fabrice Jaffré, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilgüvar, Shrikant Mane, Carlos Flores, Yu Zhang, Andrés A. Arias, Rasheed Bailey, Agatha Schlüter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada‐Vélez, Francesca Pala, Tomi Lazarov, Romain Lévy, Anna‐Lena Neehus, Jérémie Rosain, Jessica N. Peel, Yi‐Hao Chan, Marie‐Paule Morin, Rosa Pino, Serkan Belkaya, Lazaro Lorenzo, Jordi Antón, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victòria Fumadó, Marta L. DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Pérez‐Tur, Shuibing Chen, Todd Evans, Frédéric Geissmann, Pierre Lebon, Susan R. Weiss, Damien Bonnet, Xavier Duval, CoV-Contact Cohort§, COVID Human Genetic Effort¶, Qiang Pan‐Hammarström, Anna M. Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Vanessa Sancho‐Shimizu, Clifford L. Dalgard, Jacinta Bustamante, Anne Puel, Stéphanie Boisson‐Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi D. Notarangelo, Vivien Béziat, Rebeca Pérez de Diego, Carlos Rodríguez‐Gallego, Helen C. Su, Richard P. Lifton, Emmanuelle Jouanguy, Aurélie Cobat, Laia Alsina, Sevgi Keleş, Élie Haddad, Laurent Abel, Alexandre Bélot, Lluís Quintana‐Murci ほか 254 名 - Science 2022 被引用: 167

  10. De novo mutations in histone-modifying genes in congenital heart disease

    著者: Samir Zaidi, Murim Choi, Hiroko Wakimoto, Lijiang Ma, Jianming Jiang, John D. Overton, Angela Romano-Adesman, Robert Bjornson, Roger E. Breitbart, Kerry K. Brown, Nicholas Carriero, Yee Him Cheung, John Deanfield, Steven R. DePalma, Khalid A. Fakhro, Joseph Glessner, Håkon Håkonarson, Michael J. Italia, Jonathan R. Kaltman, Juan Pablo Kaski, Richard Kim, Jennie Kline, Teresa Lee, Jeremy Leipzig, Alexander Lopez, Shrikant Mane, Laura E. Mitchell, Jane W. Newburger, Michael Parfenov, Itsik Pe’er, George A. Porter, Amy E. Roberts, Ravi Sachidanandam, Stephan Sanders, Howard Seiden, Mathew W. State, Sai Lakshmi Subramanian, Irina R. Tikhonova, Wei Wang, Dorothy Warburton, Peter S. White, Ismée A. Williams, Hongyu Zhao, Jonathan G. Seidman, Martina Brueckner, Wendy K. Chung, Bruce D. Gelb, Elizabeth Goldmuntz, Christine E. Seidman, Richard P. Lifton - Nature 2013 被引用: 968

  11. Early Assessment of Lung Cancer Immunotherapy Response via Circulating Tumor DNA

    著者: Sarah B. Goldberg, Azeet Narayan, Adam J. Kole, Roy H. Decker, Jimmitti Teysir, Nicholas Carriero, Angela Lee, Roxanne Nemati, Sameer K. Nath, Shrikant Mane, Yanhong Deng, Nitin Sukumar, Daniel Zelterman, Daniel J. Boffa, Katerina Politi, Scott Gettinger, Lynn D. Wilson, Roy S. Herbst, Abhijit A. Patel - Clinical Cancer Research 2018 被引用: 450

  12. Genomic Analysis of Non- NF2 Meningiomas Reveals Mutations in TRAF7 , KLF4 , AKT1 , and SMO

    著者: Victoria Clark, E. Zeynep Erson‐Omay, Akdes Serin, Jun Yin, Justin Cotney, Koray Özduman, Timuçin Avşar, Jie Li, Phillip B. Murray, Octavian Henegariu, Saliha Yılmaz, Jennifer Moliterno Günel, Geneive Carrión-Grant, Baran Yılmaz, Conor Grady, Bahattin Tanrıkulu, Mehmet Bakırcıoğlu, Hande Kaymakçalan, Ahmet Okay Çağlayan, Leman Sencar, Emre Ceyhun, Ahmet Atik, Yaşar Bayri, Hanwen Bai, Luis Kolb, Ryan Hebert, Sacit Bulent Omay, Ketu Mishra-Gorur, Murim Choi, John D. Overton, Eric C. Holland, Shrikant Mane, Matthew W. State, Kaya Bilgüvar, Joachim M. Baehring, Philip H. Gutin, Joseph M. Piepmeier, Alexander O. Vortmeyer, Cameron Brennan, M. Necmettin Pamir, Türker Kılıç, Richard P. Lifton, James P. Noonan, Katsuhito Yasuno, Murat Günel - Science 2013 被引用: 904

  13. RNA-seq: An assessment of technical reproducibility and comparison with gene expression arrays

    著者: John C. Marioni, Christopher E. Mason, Shrikant Mane, Matthew Stephens, Yoav Gilad - Genome Research 2008 被引用: 2,840

  14. Monogenic causes of chronic kidney disease in adults

    著者: Dervla M. Connaughton, Claire Kennedy, Shirlee Shril, Nina Mann, Susan Murray, Patrick A. Williams, Eoin Conlon, Makiko Nakayama, Amelie T. van der Ven, Hadas Ityel, Franziska Kause, Caroline M. Kolvenbach, Rufeng Dai, Asaf Vivante, Daniela A. Braun, Ronen Schneider, Thomas M. Kitzler, Bróna Moloney, Conor Moran, J. Smyth, Alan Kennedy, Katherine A. Benson, Caragh P. Stapleton, Mark Denton, Colm Magee, Conall M. O’Seaghdha, William D. Plant, Matthew D. Griffin, Atif Awan, Clodagh Sweeney, Shrikant Mane, Richard P. Lifton, Brenda Walker Griffin, Sean F. Leavey, Liam Casserly, D.G. de Freitas, John Holian, Anthony Dorman, Brendan Doyle, Peter Lavin, Mark A. Little, Peter J. Conlon, Friedhelm Hildebrandt - Kidney International 2019 被引用: 275

  15. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

    著者: Michael Krauthammer, Yong Kong, Byung Hak Ha, Perry Evans, Antonella Bacchiocchi, Jamie P. McCusker, Elaine Cheng, Matthew J. Davis, Gerald Goh, Murim Choi, Stephan Ariyan, Deepak Narayan, Ken Dutton‐Regester, Ana Capatana, Edna C. Holman, Marcus Bosenberg, Mario Sznol, Harriet M. Kluger, Douglas E. Brash, David F. Stern, Miguel A. Materin, Roger S. Lo, Shrikant Mane, Shuangge Ma, Kenneth K. Kídd, Nicholas K. Hayward, Richard P. Lifton, Joseph Schlessinger, Titus J. Boggon, Ruth Halaban - Nature Genetics 2012 被引用: 1,192

  16. 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

  17. Molecular and cellular reorganization of neural circuits in the human lineage

    著者: André M. M. Sousa, Ying Zhu, Mary Ann Raghanti, Robert R. Kitchen, Marco Onorati, Andrew T.N. Tebbenkamp, Bernardo Stutz, Kyle A. Meyer, Mingfeng Li, Yuka Imamura Kawasawa, Fuchen Liu, Raquel García-Pérez, Marta Melé, Tiago Carvalho, Mario Škarica, Forrest O. Gulden, Mihovil Pletikos, Akemi Shibata, Alexa R. Stephenson, Melissa K. Edler, John J. Ely, John D. Elsworth, Tamás L. Horváth, Patrick R. Hof, Thomas M. Hyde, Joel E. Kleinman, Daniel R. Weinberger, Mark Reimers, Richard P. Lifton, Shrikant Mane, James P. Noonan, Matthew W. State, Ed S. Lein, James A. Knowles, Tomàs Marquès‐Bonet, Chet C. Sherwood, Mark Gerstein, Nenad Šestan - Science 2017 被引用: 267

  18. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

    著者: Bridget Stuart, Jungmin Choi, Samir Zaidi, Chao Xing, Brody Holohan, Rui Chen, Mihwa Choi, Pooja Dharwadkar, Fernando Torres, C Girod, Jonathan C. Weissler, John Fitzgerald, Corey D. Kershaw, Julia Klesney‐Tait, Yolanda Mageto, Jerry W. Shay, Weizhen Ji, Kaya Bilgüvar, Shrikant Mane, Richard P. Lifton, Christine Kim Garcia - Nature Genetics 2015 被引用: 467

  19. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

    著者: Sheng Chih Jin, Weilai Dong, Adam J. Kundishora, Shreyas Panchagnula, Andrés Moreno-De-Luca, Charuta G. Furey, August Allocco, Rebecca L. Walker, Carol Nelson‐Williams, Hannah Smith, Ashley Dunbar, Sierra Conine, Qiongshi Lu, Xue Zeng, Michael C. Sierant, James Knight, William Sullivan, Phan Q. Duy, Tyrone DeSpenza, Benjamin C. Reeves, Jason K. Karimy, Arnaud Marlier, Christopher Castaldi, Irina R. Tikhonova, Boyang Li, Helena Pérez‐Peña, James R. Broach, Edith Mbabazi Kabachelor, Peter Ssenyonga, Christine Hehnly, Ge Li, Boris Keren, Andrew T. Timberlake, June Goto, Francesco T. Mangano, James M. Johnston, William E. Butler, Benjamin C. Warf, Edward R. Smith, Steven J. Schiff, David D. Limbrick, Gregory G. Heuer, Eric M. Jackson, Bermans J. Iskandar, Shrikant Mane, Shozeb Haider, Bülent Güçlü, Yaşar Bayri, Yener Şahin, Charles C. Duncan, Michael L.J. Apuzzo, Michael L. DiLuna, Ellen J. Hoffman, Nenad Šestan, Laura R. Ment, Seth L. Alper, Kaya Bilgüvar, Daniel H. Geschwind, Murat Günel, Richard P. Lifton, Kristopher T. Kahle - Nature Medicine 2020 被引用: 164

  20. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

    著者: Stephan Sanders, A. Gulhan Ercan‐Sencicek, Vanessa Hus, Rui Luo, Michael T. Murtha, Daniel Moreno‐De‐Luca, Su H. Chu, Michael Moreau, Abha R. Gupta, Susanne Thomson, Christopher E. Mason, Kaya Bilgüvar, Patrícia B. S. Celestino-Soper, Murim Choi, Emily L. Crawford, Lea K. Davis, Nicole R. Davis Wright, Rahul M. Dhodapkar, Michael DiCola, Nicholas M. DiLullo, Thomas Fernandez, Vikram Fielding‐Singh, Daniel O. Fishman, Stephanie Frahm, Rouben Garagaloyan, Gerald Goh, Sindhuja Kammela, Lambertus Klei, Jennifer K. Lowe, Sabata C. Lund, Anna D. McGrew, Kyle A. Meyer, William J. Moffat, John D. Murdoch, Brian J. O’Roak, G Ober, Rebecca S. Pottenger, Melanie J. Raubeson, Youeun Song, Qi Wang, Brian L. Yaspan, Timothy W. Yu, Ilana R. Yurkiewicz, Arthur L. Beaudet, Rita M. Cantor, Martin Curland, Dorothy E. Grice, Murat Günel, Richard P. Lifton, Shrikant Mane, Donna M. Martin, Chad A. Shaw, Michael Sheldon, Jay A. Tischfield, Christopher A. Walsh, Eric M. Morrow, David H. Ledbetter, Éric Fombonne, Catherine Lord, Christa Lese Martin, Andrew I. Brooks, James S. Sutcliffe, Edwin H. Cook, Daniel H. Geschwind, Kathryn Roeder, Bernie Devlin, Matthew W. State - Neuron 2011 被引用: 1,292

  21. K + Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension

    著者: Murim Choi, Ute I. Scholl, Peng Yue, Peyman Björklund, Bixiao Zhao, Carol Nelson‐Williams, Weizhen Ji, Yoonsang Cho, Aniruddh P. Patel, Clara J. Men, Elias Lolis, Max Wisgerhof, David S. Geller, Shrikant Mane, Per Hellman, Gunnar Westin, Göran Åkerström, Wen‐Hui Wang, Tobias Carling, Richard P. Lifton - Science 2011 被引用: 991

  22. A Novel miRNA Processing Pathway Independent of Dicer Requires Argonaute2 Catalytic Activity

    著者: Daniel Cifuentes, Huiling Xue, David W. Taylor, Heather Patnode, Yuichiro Mishima, Sihem Cheloufi, Enbo Ma, Shrikant Mane, Gregory J. Hannon, Nathan D. Lawson, Scot A. Wolfe, Antonio J. Giráldez - Science 2010 被引用: 836

  23. Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas

    著者: Michael Krauthammer, Yong Kong, Antonella Bacchiocchi, Perry Evans, Natapol Pornputtapong, Cen Wu, Jamie P. McCusker, Shuangge Ma, Elaine Cheng, Robert F. Straub, Merdan Serin, Marcus Bosenberg, Stephan Ariyan, Deepak Narayan, Mario Sznol, Harriet M. Kluger, Shrikant Mane, Joseph Schlessinger, Richard P. Lifton, Ruth Halaban - Nature Genetics 2015 被引用: 405

  24. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

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