Properties and rates of germline mutations in humans

le Campbell, Catarina D., Eichler, Evan E.
Foilsithe 2013

Human Copy Number Variation and Complex Genetic Disease

le Girirajan, Santhosh, Campbell, Catarina D., Eichler, Evan E.
Foilsithe in Annu Rev Genet (2011)

A survey of allelic imbalance in F1 mice

le Campbell, Catarina D., Kirby, Andrew, Nemesh, James, Daly, Mark J., Hirschhorn, Joel N.
Foilsithe 2008

PureCN: copy number calling and SNV classification using targeted short read sequencing

le Riester, Markus, Singh, Angad P., Brannon, A. Rose, Yu, Kun, Campbell, Catarina D., Chiang, Derek Y., Morrissey, Michael P.
Foilsithe in Source Code Biol Med (2016)

Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

le Campbell, Catarina D., Sampas, Nick, Tsalenko, Anya, Sudmant, Peter H., Kidd, Jeffrey M., Malig, Maika, Vu, Tiffany H., Vives, Laura, Tsang, Peter, Bruhn, Laurakay, Eichler, Evan E.
Foilsithe 2011

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

le Girirajan, Santhosh, Dennis, Megan Y., Baker, Carl, Malig, Maika, Coe, Bradley P., Campbell, Catarina D., Mark, Kenneth, Vu, Tiffany H., Alkan, Can, Cheng, Ze, Biesecker, Leslie G., Bernier, Raphael, Eichler, Evan E.
Foilsithe 2013

Estimating human mutation rate using autozygosity in a founder population

le Campbell, Catarina D., Chong, Jessica X., Malig, Maika, Ko, Arthur, Dumont, Beth L., Han, Lide, Vives, Laura, O’Roak, Brian J., Sudmant, Peter H., Shendure, Jay, Abney, Mark, Ober, Carole, Eichler, Evan E.
Foilsithe 2012

Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region

le Mohajeri, Kiana, Cantsilieris, Stuart, Huddleston, John, Nelson, Bradley J., Coe, Bradley P., Campbell, Catarina D., Baker, Carl, Harshman, Lana, Munson, Katherine M., Kronenberg, Zev N., Kremitzki, Milinn, Raja, Archana, Catacchio, Claudia Rita, Graves, Tina A., Wilson, Richard K., Ventura, Mario, Eichler, Evan E.
Foilsithe in Genome Res (2016)

A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

le Antonacci, Francesca, Kidd, Jeffrey M., Marques-Bonet, Tomas, Teague, Brian, Ventura, Mario, Girirajan, Santhosh, Alkan, Can, Campbell, Catarina D., Vives, Laura, Malig, Maika, Rosenfeld, Jill A., Ballif, Blake C., Shaffer, Lisa G., Graves, Tina A., Wilson, Richard K., Schwartz, David C., Eichler, Evan E.
Foilsithe 2010

Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism

le Steinberg, Karyn Meltz, Antonacci, Francesca, Sudmant, Peter H., Kidd, Jeffrey M., Campbell, Catarina D., Vives, Laura, Malig, Maika, Scheinfeldt, Laura, Beggs, William, Ibrahim, Muntaser, Lema, Godfrey, Nyambo, Thomas B., Omar, Sabah A., Bodo, Jean-Marie, Froment, Alain, Donnelly, Michael P., Kidd, Kenneth K., Tishkoff, Sarah A., Eichler, Evan E.
Foilsithe 2012

Cell-free DNA captures tumor heterogeneity and driver alterations in rapid autopsies with pre-treated metastatic cancer

le Pereira, Bernard, Chen, Christopher T., Goyal, Lipika, Walmsley, Charlotte, Pinto, Christopher J., Baiev, Islam, Allen, Read, Henderson, Laura, Saha, Supriya, Reyes, Stephanie, Taylor, Martin S., Fitzgerald, Donna M., Broudo, Maida Williams, Sahu, Avinash, Gao, Xin, Winckler, Wendy, Brannon, A. Rose, Engelman, Jeffrey A., Leary, Rebecca, Stone, James R., Campbell, Catarina D., Juric, Dejan
Foilsithe in Nat Commun (2021)

BRAF-Mutant Transcriptional Subtypes Predict Outcome of Combined BRAF, MEK, and EGFR Blockade with Dabrafenib, Trametinib, and Panitumumab in Patients with Colorectal Cancer

le Middleton, Gary, Yang, Yiqun, Campbell, Catarina D., André, Thierry, Atreya, Chloe E., Schellens, Jan H.M., Yoshino, Takayuki, Bendell, Johanna C., Hollebecque, Antoine, McRee, Autumn J., Siena, Salvatore, Gordon, Michael S., Tabernero, Josep, Yaeger, Rona, O’Dwyer, Peter J., De Vos, Filip, Van Cutsem, Eric, Millholland, John M., Brase, Jan C., Rangwala, Fatima, Gasal, Eduard, Corcoran, Ryan B.
Foilsithe in Clin Cancer Res (2020)

Tracking the Evolution of Resistance to ALK Tyrosine Kinase Inhibitors Through Longitudinal Analysis of Circulating Tumor DNA

le Dagogo-Jack, Ibiayi, Brannon, A. Rose, Ferris, Lorin A., Campbell, Catarina D., Lin, Jessica J., Schultz, Katherine R., Ackil, Jennifer, Stevens, Sara, Dardaei, Leila, Yoda, Satoshi, Hubbeling, Harper, Digumarthy, Subba R., Riester, Markus, Hata, Aaron N., Sequist, Lecia V., Lennes, Inga T., Iafrate, Anthony John, Heist, Rebecca S., Azzoli, Christopher G., Farago, Anna F., Engelman, Jeffrey A., Lennerz, Jochen K., Benes, Cyril H., Leary, Rebecca J., Shaw, Alice T., Gainor, Justin F.
Foilsithe in JCO Precis Oncol (2018)

Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples

le MacConaill, Laura E., Campbell, Catarina D., Kehoe, Sarah M., Bass, Adam J., Hatton, Charles, Niu, Lili, Davis, Matt, Yao, Keluo, Hanna, Megan, Mondal, Chandrani, Luongo, Lauren, Emery, Caroline M., Baker, Alissa C., Philips, Juliet, Goff, Deborah J., Fiorentino, Michelangelo, Rubin, Mark A., Polyak, Kornelia, Chan, Jennifer, Wang, Yuexiang, Fletcher, Jonathan A., Santagata, Sandro, Corso, Gianni, Roviello, Franco, Shivdasani, Ramesh, Kieran, Mark W., Ligon, Keith L., Stiles, Charles D., Hahn, William C., Meyerson, Matthew L., Garraway, Levi A.
Foilsithe 2009

Correction: Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples

le MacConaill, Laura E., Campbell, Catarina D., Kehoe, Sarah M., Bass, Adam J., Hatton, Charles, Niu, Lili, Davis, Matt, Yao, Keluo, Hanna, Megan, Mondal, Chandrani, Luongo, Lauren, Emery, Caroline M., Baker, Alissa C., Philips, Juliet, Goff, Deborah J., Fiorentino, Michelangelo, Rubin, Mark A., Polyak, Kornelia, Chan, Jennifer, Wang, Yuexiang, Fletcher, Jonathan A., Santagata, Sandro, Corso, Gianni, Roviello, Franco, Shivdasani, Ramesh, Kieran, Mark W., Ligon, Keith L., Stiles, Charles D., Hahn, William C., Meyerson, Matthew L., Garraway, Levi A.
Foilsithe 2009

Correction: Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples

le MacConaill, Laura E., Campbell, Catarina D., Kehoe, Sarah M., Bass, Adam J., Hatton, Charles, Niu, Lili, Davis, Matt, Yao, Keluo, Hanna, Megan, Mondal, Chandrani, Luongo, Lauren, Emery, Caroline M., Baker, Alissa C., Philips, Juliet, Goff, Deborah J., Fiorentino, Michelangelo, Rubin, Mark A., Polyak, Kornelia, Chan, Jennifer, Wang, Yuexiang, Fletcher, Jonathan A., Santagata, Sandro, Corso, Gianni, Roviello, Franco, Shivdasani, Ramesh, Kieran, Mark W., Ligon, Keith L., Stiles, Charles D., Hahn, William C., Meyerson, Matthew L., Garraway, Levi A.
Foilsithe 2010

Whole-Genome Sequencing of Individuals from a Founder Population Identifies Candidate Genes for Asthma

le Campbell, Catarina D., Mohajeri, Kiana, Malig, Maika, Hormozdiari, Fereydoun, Nelson, Benjamin, Du, Gaixin, Patterson, Kristen M., Eng, Celeste, Torgerson, Dara G., Hu, Donglei, Herman, Catherine, Chong, Jessica X., Ko, Arthur, O'Roak, Brian J., Krumm, Niklas, Vives, Laura, Lee, Choli, Roth, Lindsey A., Rodriguez-Cintron, William, Rodriguez-Santana, Jose, Brigino-Buenaventura, Emerita, Davis, Adam, Meade, Kelley, LeNoir, Michael A., Thyne, Shannon, Jackson, Daniel J., Gern, James E., Lemanske, Robert F., Shendure, Jay, Abney, Mark, Burchard, Esteban G., Ober, Carole, Eichler, Evan E.
Foilsithe 2014

Wide spectrum of developmental brain disorders from megalencephaly to focal cortical dysplasia and pigmentary mosaicism caused by mutations of MTOR

le Mirzaa, Ghayda M., Campbell, Catarina D., Solovieff, Nadia, Goold, Carleton, Jansen, Laura A., Menon, Suchithra, Timms, Andrew E., Conti, Valerio, Biag, Jonathan D., Adams, Carissa, Boyle, Evan August, Collins, Sarah, Ishak, Gisele, Poliachik, Sandra, Girisha, Katta M., Yeung, Kit San, Chung, Brian Hon Yin, Rahikkala, Elisa, Gunter, Sonya A., McDaniel, Sharon S., Macmurdo, Colleen Forsyth, Bernstein, Jonathan A., Martin, Beth, Leary, Rebecca, Mahan, Scott, Liu, Shanming, Weaver, Molly, Doerschner, Michael, Jhangiani, Shalini, Muzny, Donna M., Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R., Shendure, Jay, Saneto, Russell P., Novotny, Edward J., Wilson, Christopher J., Sellers, William R., Morrissey, Michael, Hevner, Robert F., Ojemann, Jeffrey G., Guerrini, Renzo, Murphy, Leon O., Winckler, Wendy, Dobyns, William B.
Foilsithe in JAMA Neurol (2016)

Genome-wide Association Study and Admixture Mapping Reveal New Loci Associated with Total IgE Levels in Latinos

le Pino-Yanes, Maria, Gignoux, Christopher R., Galanter, Joshua M., Levin, Albert M., Campbell, Catarina D., Eng, Celeste, Huntsman, Scott, Nishimura, Katherine K., Gourraud, Pierre-Antoine, Mohajeri, Kiana, O'Roak, Brian J., Hu, Donglei, Mathias, Rasika A., Nguyen, Elizabeth A., Roth, Lindsey A., Padhukasahasram, Badri, Moreno-Estrada, Andres, Sandoval, Karla, Winkler, Cheryl A., Lurmann, Fred, Davis, Adam, Farber, Harold J., Meade, Kelley, Avila, Pedro C., Serebrisky, Denise, Chapela, Rocio, Ford, Jean G., Lenoir, Michael A., Thyne, Shannon M., Brigino-Buenaventura, Emerita, Borrell, Luisa N., Rodriguez-Cintron, William, Sen, Saunak, Kumar, Rajesh, Rodriguez-Santana, Jose R., Bustamante, Carlos D., Martinez, Fernando D., Raby, Benjamin A., Weiss, Scott T., Nicolae, Dan L., Ober, Carole, Meyers, Deborah A., Bleecker, Eugene R., Mack, Steven J., Hernandez, Ryan D., Eichler, Evan E., Barnes, Kathleen C., Williams, L. Keoki, Torgerson, Dara G., Burchard, Esteban G.
Foilsithe in J Allergy Clin Immunol (2014)