Properties and rates of germline mutations in humans

Por Campbell, Catarina D., Eichler, Evan E.
Publicado em 2013

A survey of allelic imbalance in F1 mice

Por Campbell, Catarina D., Kirby, Andrew, Nemesh, James, Daly, Mark J., Hirschhorn, Joel N.
Publicado em 2008

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

Por Riester, Markus, Singh, Angad P., Brannon, A. Rose, Yu, Kun, Campbell, Catarina D., Chiang, Derek Y., Morrissey, Michael P.
Publicado no Source Code Biol Med (2016)

Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

Por 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.
Publicado em 2011

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

Por 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.
Publicado em 2013

Estimating human mutation rate using autozygosity in a founder population

Por 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.
Publicado em 2012

Functional Significance of Single Nucleotide Polymorphisms in the Lactase Gene in Diverse United States Subjects and Evidence for a Novel Lactase Persistence Allele at -13909 in Th...

Por Baffour-Awuah, Nana Yaa, Fleet, Sarah, Baker, Susan S., Butler, Johannah L., Campbell, Catarina, Tischfield, Samuel, Mitchell, Paul D., Moon, Jennifer E., Allende-Richter, Sophie, Fishman, Laurie, Bousvaros, Athos, Fox, Victor, Kuokkanen, Mikko, Montgomery, Robert K., Grand, Richard J., Hirschhorn, Joel N.
Publicado no J Pediatr Gastroenterol Nutr (2015)

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

Por 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.
Publicado no Genome Res (2016)

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

Por 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.
Publicado em 2010

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

Por 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.
Publicado em 2012

Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples

Por 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.
Publicado em 2009

Correction: Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples

Por 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.
Publicado em 2009

Correction: Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples

Por 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.
Publicado em 2010

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

Por 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.
Publicado em 2014

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

Por 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.
Publicado no JAMA Neurol (2016)

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

Por 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.
Publicado no J Allergy Clin Immunol (2014)