Properties and rates of germline mutations in humans

nork Campbell, Catarina D., Eichler, Evan E.
Argitaratua 2013

Human Copy Number Variation and Complex Genetic Disease

nork Girirajan, Santhosh, Campbell, Catarina D., Eichler, Evan E.
Argitaratua izan da Annu Rev Genet (2011)

A survey of allelic imbalance in F1 mice

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

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

nork Riester, Markus, Singh, Angad P., Brannon, A. Rose, Yu, Kun, Campbell, Catarina D., Chiang, Derek Y., Morrissey, Michael P.
Argitaratua izan da Source Code Biol Med (2016)

Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

nork 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.
Argitaratua 2011

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

nork 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.
Argitaratua 2013

Estimating human mutation rate using autozygosity in a founder population

nork 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.
Argitaratua 2012

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

nork 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.
Argitaratua izan da Genome Res (2016)

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

nork 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.
Argitaratua 2010

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

nork 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.
Argitaratua 2012

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

nork 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
Argitaratua izan da 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

nork 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.
Argitaratua izan da Clin Cancer Res (2020)

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

nork 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.
Argitaratua izan da JCO Precis Oncol (2018)

Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples

nork 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.
Argitaratua 2009

Correction: Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples

nork 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.
Argitaratua 2009

Correction: Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples

nork 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.
Argitaratua 2010

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

nork 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.
Argitaratua 2014

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

nork 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.
Argitaratua izan da JAMA Neurol (2016)

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

nork 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.
Argitaratua izan da J Allergy Clin Immunol (2014)