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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.(REPORTS)(Report)(Author abstract)

O'roak, Brian J. ; Vives, Laura ; Fu, Wenqing ; Egertson, Jarrett D. ; Stanaway, Ian B. ; Phelps, Ian G. ; Carvill, Gemma ; Kumar, Akash ; Lee, Choli ; Ankenman, Katy ; Munson, Jeff ; Hiatt, Joseph B. ; Turner, Emily H. ; Levy, Role ; Oday, Diana R. ; Krumm, Niklas ; Coe, Bradley P. ; Martin, Beth K. ; Borenstein, Elhanan ; Nickerson, Deborah A. ; Mefford, Heather C. ; Doherty, Dan ; Akey, Joshua M. ; Bernier, Raphael ; Eichter, Evan E. ; Shendure, Jay

Science, Dec 21, 2012, Vol.338(6114), p.1619(4) [Peer Reviewed Journal]

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Diversity of human copy number variation and multicopy genes.(RESEARCH ARTICLES)(Author abstract)(Report)

Sudmant, Peter H. ; Kitzman, Jacob O. ; Antonacci, Francesca ; Alkan, Can ; Malig, Maika ; Tsalenko, Anya ; Sampas, Nick ; Bruhn, Laurakay ; Shendure, Jay ; Eichler, Evan E.

Science, Oct 29, 2010, Vol.330(6004), p.641(6) [Peer Reviewed Journal]

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Saturation editing of genomic regions by multiplex homology-directed repair.(RESEARCH: LETTER)(Report)

Findlay, Gregory M. ; Boyle, Evan A. ; Hause, Ronald J. ; Klein, Jason C. ; Shendure, Jay

Nature, Sept 4, 2014, Vol.513(7516), p.120(16) [Peer Reviewed Journal]

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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.(Report)(Author abstract)

Chong, Jessica x ; Buckingham, Kati j ; Jhangiani, Shalini n ; Boehm, Corinne ; Sobreira, Nara ; Smith, Joshua d ; Harrell, Tanya m ; Mcmillin, Margaret j ; Wiszniewski, Wojciech ; Gambin, Tomasz ; Coban akdemir, Zeynep h ; Doheny, Kimberly ; Scott, Alan f ; Avramopoulos, Dimitri ; Chakravarti, Aravinda ; Hoover-Fong, Julie ; Mathews, Debra ; Witmer, P. dane ; Ling, Hua ; Hetrick, Kurt ; Watkins, Lee ; Patterson, Karynne e ; Reinier, Frederic ; Blue, Elizabeth ; Muzny, Donna ; Kircher, Martin ; Bilguvar, Kaya ; López-Giráldez, Francesc ; Sutton, V. reid ; Tabor, Holly k ; Leal, Suzanne m ; Gunel, Murat ; Mane, Shrikant ; Gibbs, Richard a ; Boerwinkle, Eric ; Hamosh, Ada ; Shendure, Jay ; Lupski, James r ; Lifton, Richard p ; Valle, David ; Nickerson, Deborah a ; Bamshad, Michael j;

American Journal of Human Genetics, August 6, 2015, Vol.97(2), p.199(17) [Peer Reviewed Journal]

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The cis-regulatory dynamics of embryonic development at single-cell resolution.(Report)

Cusanovich, Darren A. ; Reddington, James P. ; Garfield, David A. ; Daza, Riza M. ; Aghamirzaie, Delasa ; Marco-Ferreres, Raquel ; Pliner, Hannah A. ; Christiansen, Lena ; Qiu, Xiaojie ; Steemers, Frank J. ; Trapnell, Cole ; Shendure, Jay ; Furlong, Eileen E. M.

Nature, March 22, 2018, Vol.555(7697), p.538 [Peer Reviewed Journal]

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Single molecule profiling of alternative pre-mRNA splicing.(Reports)

Zhu, Jun ; Shendure, Jay ; Mitra, Robi D. ; Church, George M.

Science, August 8, 2003, Vol.301(5634), p.836(3) [Peer Reviewed Journal]

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Genetic Variation Meets Replication Origins

Hause, Ronald J. ; Shendure, Jay

Cell, Nov 20, 2014, Vol.159(5), p.973 [Peer Reviewed Journal]

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A general framework for estimating the relative pathogenicity of human genetic variants.(TECHNICAL REPORTS)(Report)

Kircher, Martin ; Witten, Daniela M. ; Jain, Preti ; O'Roak, Brian J. ; Cooper, Gregory M. ; Shendure, Jay

Nature Genetics, 2014, Vol.46(3), p.310(8) [Peer Reviewed Journal]

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MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms.(Report)(Author abstract)

Guo, Dong-Chuan ; Gong, Limin ; Regalado, Ellen S ; Santos-Cortez, Regie L ; Zhao, Ren ; Cai, Bo ; Veeraraghavan, Sudha ; Prakash, Siddharth K ; Johnson, Ralph J ; Muilenburg, Ann ; Willing, Marcia ; Jondeau, Guillaume ; Boileau, Catherine ; Pannu, Hariyadarshi ; Moran, Rocio ; Debacker, Julie ; Bamshad, Michael J ; Shendure, Jay ; Nickerson, Deborah A ; Leal, Suzanne M ; Raman, C S ; Swindell, Eric C ; Milewicz, Dianna M;

American Journal of Human Genetics, Jan 8, 2015, Vol.96(1), p.170(8) [Peer Reviewed Journal]

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Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History.(Report)

Liu, Siyang ; Huang, Shujia ; Chen, Fang ; Zhao, Lijian ; Yuan, Yuying ; Francis, Stephen Starko ; Fang, Lin ; Li, Zilong ; Lin, Long ; Liu, Rong ; Zhang, Yong ; Xu, Huixin ; Li, Shengkang ; Zhou, Yuwen ; Davies, Robert W. ; Liu, Qiang ; Walters, Robin G. ; Lin, Kuang ; Ju, Jia ; Korneliussen, Thorfinn ; Yang, Melinda A. ; Fu, Qiaomei ; Wang, Jun ; Zhou, Lijun ; Krogh, Anders ; Zhang, Hongyun ; Wang, Wei ; Chen, Zhengming ; Cai, Zhiming ; Yin, Ye ; Yang, Huanming ; Mao, Mao ; Shendure, Jay ; Wang, Jian ; Albrechtsen, Anders ; Jin, Xin ; Nielsen, Rasmus ; Xu, Xun

Cell, Oct 4, 2018, Vol.175(2), p.347 [Peer Reviewed Journal]

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