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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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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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An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.(RESOURCE)(small interfering RNA)(Report)

Wheway, Gabrielle ; Schmidts, Miriam ; Mans, Dorus A ; Szymanska, Katarzyna ; Nguyen, Thanh-Minh T ; Racher, Hilary ; Phelps, Ian G ; Toedt, Grischa ; Kennedy, Julie ; Wunderlich, Kirsten A ; Sorusch, Nasrin ; Abdelhamed, Zakia A ; Natarajan, Subaashini ; Herridge, Warren ; van Reeuwijk, Jeroen ; Horn, Nicola ; Boldt, Karsten ; Parry, David A ; Letteboer, Stef J F ; Roosing, Susanne ; Adams, Matthew ; Bell, Sandra M ; Bond, Jacquelyn ; Higgins, Julie ; Morrison, Ewan E ; Tomlinson, Darren C ; Slaats, Gisela G ; van Dam, Teunis J P ; Huang, Lijia ; Kessler, Kristin ; Giessl, Andreas ; Logan, Clare V ; Boyle, Evan A ; Shendure, Jay ; Anazi, Shamsa ; Aldahmesh, Mohammed ; Al Hazzaa, Selwa ; Hegele, Robert A ; Ober, Carole ; Frosk, Patrick ; Mhanni, Aizeddin A ; Chodirker, Bernard N ; Chudley, Albert E ; Lamont, Ryan ; Bernier, Francois P ; Beaulieu, Chandree L ; Gordon, Paul ; Pon, Richard T ; Donahue, Clem ; Barkovich, A James ; Wolf, Louis ; Toomes, Carmel ; Thiel, Christian T ; Boycott, Kym M ; Mckibbin, Martin ; Inglehearn, Chris F ; Stewart, Fiona ; Omran, Heymut ; Huynen, Martijn A ; Sergouniotis, Panagiotis I ; Alkuraya, Fowzan S ; Parboosingh, Jillian S ; Innes, A Micheil ; Willoughby, Colin E ; Giles, Rachel H ; Webster, Andrew R ; Ueffing, Marius ; Blacque, Oliver ; Gleeson, Joseph G ; Wolfrum, Uwe ; Beales, Philip L ; Gibson, Toby ; Doherty, Dan ; Mitchison, Hannah M ; Roepman, Ronald ; Johnson, Colin A;

Nature Cell Biology, 2015, Vol.17(8), p.1074(43) [Peer Reviewed Journal]

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Exome sequencing as a tool for Mendelian disease gene discovery.(TRANSLATIONAL GENETICS)(Report)

Bamshad, Michael J. ; Ng, Sarah B. ; Bigham, Abigail W. ; Tabor, Holly K. ; Emond, Mary J. ; Nickerson, Deborah A. ; Shendure, Jay

Nature Reviews Genetics, Nov, 2011, Vol.12(11), p.745(11) [Peer Reviewed Journal]

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Massively Parallel Genetics

Shendure, Jay ; Fields, Stanley

Genetics, 2016, Vol.203(2), pp.617-619 [Peer Reviewed Journal]

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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.(Report)(Letter to the editor)

Boileau, Catherine ; Guo, Dong-Chuan ; Hanna, Nadine ; Regalado, Ellen S. ; Detaint, Delphine ; Gong, Limin ; Varret, Mathilde ; Prakash, Siddharth K. ; Li, Alexander H. ; D'Indy, Hyacintha ; Braverman, Alan C. ; Grandchamp, Bernard ; Kwartler, Callie S. ; Gouya, Laurent ; Santos-Cortez, Regie Lyn P. ; Abifadel, Marianne ; Leal, Suzanne M. ; Muti, Christine ; Shendure, Jay ; Gross, Marie-Sylvie ; Rieder, Mark J. ; Vahanian, Alec ; Nickerson, Deborah A. ; Michel, Jean Baptiste ; Jondeau, Guillaume ; Milewicz, Dianna M.

Nature Genetics, 2012, Vol.44(8), p.916(8) [Peer Reviewed Journal]

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Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86.(Report)(Author abstract)

Rehman, Atteeq ; P Santos-Cortez, Regie ; Morell, Robert ; Drummond, Meghan ; Ito, Taku ; Lee, Kwanghyuk ; Khan, Asma ; R Basra, Muhammad ; Wasif, Naveed ; Ayub, Muhammad ; Ali, Rana ; Raza, Syed ; Nickerson, Deborah ; Shendure, Jay ; Bamshad, Michael ; Riazuddin, Saima ; Billington, Neil ; Khan, Shaheen ; Friedman, Penelope ; Griffith, Andrew ; Ahmad, Wasim ; Riazuddin, Sheikh ; Leal, Suzanne ; Friedman, Thomas;

American Journal of Human Genetics, Jan 2, 2014, Vol.94(1), p.144(9) [Peer Reviewed Journal]

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Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer.(LETTERS)(Report)

Peifer, Martin ; Fernández-Cuesta, Lynnette ; Sos, Martin ; George, Julie ; Seidel, Danila ; Kasper, Lawryn ; Plenker, Dennis ; Leenders, Frauke ; Sun, Ruping ; Zander, Thomas ; Menon, Roopika ; Koker, Mirjam ; Dahmen, Ilona ; Müller, Christian ; Di Cerbo, Vincenzo ; Schildhaus, Hans-Ulrich ; Altmüller, Janine ; Baessmann, Ingelore ; Becker, Christian ; de Wilde, Bram ; Vandesompele, Jo ; Böhm, Diana ; Ansén, Sascha ; Gabler, Franziska ; Wilkening, Ines ; Heynck, Stefanie ; Heuckmann, Johannes ; Lu, Xin ; Carter, Scott ; Cibulskis, Kristian ; Banerji, Shantanu ; Getz, Gad ; Park, Kwon-Sik ; Rauh, Daniel ; Grütter, Christian ; Fischer, Matthias ; Pasqualucci, Laura ; Wright, Gavin ; Wainer, Zoe ; Russell, Prudence ; Petersen, Iver ; Chen, Yuan ; Stoelben, Erich ; Ludwig, Corinna ; Schnabel, Philipp ; Hoffmann, Hans ; Muley, Thomas ; Brockmann, Michael ; Engel-Riedel, Walburga ; Muscarella, Lucia ; Fazio, Vito ; Groen, Harry ; Timens, Wim ; Sietsma, Hannie ; Thunnissen, Erik ; Smit, Egbert ; Heideman, Daniëlle ; Snijders, Peter ; Cappuzzo, Federico ; Ligorio, Claudia ; Damiani, Stefania ; Field, John ; Solberg, Steinar ; Brustugun, Odd ; Lund-Iversen, Marius ; Sänger, Jörg ; Clement, Joachim ; Soltermann, Alex ; Moch, Holger ; Weder, Walter ; Solomon, Benjamin ; Soria, Jean-Charles ; Validire, Pierre ; Besse, Benjamin ; Brambilla, Elisabeth ; Brambilla, Christian ; Lantuejoul, Sylvie ; Lorimier, Philippe ; Schneider, Peter ; Hallek, Michael ; Pao, William ; Meyerson, Matthew ; Sage, Julien ; Shendure, Jay ; Schneider, Robert ; Büttner, Reinhard ; Wolf, Jürgen ; Nürnberg, Peter ; Perner, Sven ; Heukamp, Lukas ; Brindle, Paul ; Haas, Stefan ; Thomas, Roman;

Nature Genetics, 2012, Vol.44(10), p.1104(9) [Peer Reviewed Journal]

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