Properties and rates of germline mutations in humans

ανά Campbell, Catarina D., Eichler, Evan E.
Έκδοση 2013

Human Copy Number Variation and Complex Genetic Disease

ανά Girirajan, Santhosh, Campbell, Catarina D., Eichler, Evan E.
Τόπος έκδοσης Annu Rev Genet (2011)

A survey of allelic imbalance in F1 mice

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

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

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

Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

ανά 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.
Έκδοση 2011

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

ανά 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.
Έκδοση 2013

Estimating human mutation rate using autozygosity in a founder population

ανά 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.
Έκδοση 2012

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

ανά 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.
Τόπος έκδοσης Genome Res (2016)

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

ανά 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.
Έκδοση 2010

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

ανά 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.
Έκδοση 2012

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

ανά 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
Τόπος έκδοσης 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

ανά 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.
Τόπος έκδοσης Clin Cancer Res (2020)

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

ανά 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.
Τόπος έκδοσης JCO Precis Oncol (2018)

Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples

ανά 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.
Έκδοση 2009

Correction: Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples

ανά 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.
Έκδοση 2009

Correction: Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples

ανά 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.
Έκδοση 2010

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

ανά 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.
Έκδοση 2014

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

ανά 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.
Τόπος έκδοσης JAMA Neurol (2016)

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

ανά 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.
Τόπος έκδοσης J Allergy Clin Immunol (2014)