Saturation Editing of Genomic Regions by Multiplex Homology-Directed Repair

Por Findlay, Gregory M., Boyle, Evan A., Hause, Ronald J., Klein, Jason, Shendure, Jay
Publicado em 2014

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

Por Boyle, Evan A., O’Roak, Brian J., Martin, Beth K., Kumar, Akash, Shendure, Jay
Publicado em 2014

Detection of human adaptation during the past 2000 years

Por Field, Yair, Boyle, Evan A, Telis, Natalie, Gao, Ziyue, Gaulton, Kyle J., Golan, David, Yengo, Loic, Rocheleau, Ghislain, Froguel, Philippe, McCarthy, Mark I., Pritchard, Jonathan K.
Publicado no Science (2016)

KIAA0586 is mutated in Joubert syndrome

Por Bachmann-Gagescu, Ruxandra, Phelps, Ian G., Dempsey, Jennifer C., Sharma, Vivek A., Ishak, Gisele E., Boyle, Evan A, Wilson, Meredith, Lourenço, Charles Marques, Arslan, Mutluay, Shendure, Jay, Doherty, Dan
Publicado no Hum Mutat (2015)

Germline Missense Variants in the BTNL2 Gene Are Associated with Prostate Cancer Susceptibility

Por FitzGerald, Liesel M., Kumar, Akash, Boyle, Evan A., Zhang, Yuzheng, McIntosh, Laura M., Kolb, Suzanne, Stott-Miller, Marni, Smith, Tiffany, Karyadi, Danielle M., Ostrander, Elaine A., Hsu, Li, Shendure, Jay, Stanford, Janet L.
Publicado em 2013

mTOR Pathway Mutations Cause Hemimegalencephaly and Focal Cortical Dysplasia

Por D'Gama, Alissa M., Geng, Ying, Couto, Javier A., Martin, Beth, Boyle, Evan A., LaCoursiere, Christopher M., Hossain, Amer, Hatem, Nicole E., Barry, Brenda, Kwiatkowski, David J., Vinters, Harry V., Barkovich, A. James, Shendure, Jay, Mathern, Gary W., Walsh, Christopher A., Poduri, Annapurna
Publicado no Ann Neurol (2015)

Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes

Por Kumar, Akash, Boyle, Evan A, Tokita, Mari, Mikheev, Andrei M, Sanger, Michelle C, Girard, Emily, Silber, John R, Gonzalez-Cuyar, Luis F, Hiatt, Joseph B, Adey, Andrew, Lee, Choli, Kitzman, Jacob O, Born, Donald E, Silbergeld, Daniel L, Olson, James M, Rostomily, Robert C, Shendure, Jay
Publicado no Genome Biol (2014)

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Por Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, Lory, Philippe, Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Publicado no Am J Hum Genet (2015)

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Por 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.
Publicado no Nat Cell Biol (2015)