Characterizing the Major Structural Variant Alleles of the Human Genome
Audano, Peter A., Sulovari, Arvis, Graves-Lindsay, Tina A., Cantsilieris, Stuart, Sorensen, Melanie, Welch, AnneMarie E., Dougherty, Max L., Nelson, Bradley J., Shah, Ankeeta, Dutcher, Susan K., Warren, Wesley C., Magrini, Vincent, McGrath, Sean D., Li, Yang I., Wilson, Richard K., Eichler, Evan E.
Published in Cell (24.01.2019)
Published in Cell (24.01.2019)
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Journal Article
Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans
Hsieh, PingHsun, Dang, Vy, Vollger, Mitchell R., Mao, Yafei, Huang, Tzu-Hsueh, Dishuck, Philip C., Baker, Carl, Cantsilieris, Stuart, Lewis, Alexandra P., Munson, Katherine M., Sorensen, Melanie, Welch, AnneMarie E., Underwood, Jason G., Eichler, Evan E.
Published in Nature communications (25.08.2021)
Published in Nature communications (25.08.2021)
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Journal Article
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes
Hsieh, PingHsun, Vollger, Mitchell R, Dang, Vy, Porubsky, David, Baker, Carl, Cantsilieris, Stuart, Hoekzema, Kendra, Lewis, Alexandra P, Munson, Katherine M, Sorensen, Melanie, Kronenberg, Zev N, Murali, Shwetha, Nelson, Bradley J, Chiatante, Giorgia, Maggiolini, Flavia Angela Maria, Blanché, Hélène, Underwood, Jason G, Antonacci, Francesca, Deleuze, Jean-François, Eichler, Evan E
Published in Science (American Association for the Advancement of Science) (18.10.2019)
Published in Science (American Association for the Advancement of Science) (18.10.2019)
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Journal Article
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family
Cantsilieris, Stuart, Nelson, Bradley J., Huddleston, John, Baker, Carl, Harshman, Lana, Penewit, Kelsi, Munson, Katherine M., Sorensen, Melanie, Welch, AnneMarie E., Dang, Vy, Grassmann, Felix, Richardson, Andrea J., Guymer, Robyn H., Graves-Lindsay, Tina A., Wilson, Richard K., Weber, Bernhard H. F., Baird, Paul N., Allikmets, Rando, Eichler, Evan E.
Published in Proceedings of the National Academy of Sciences - PNAS (08.05.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (08.05.2018)
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Journal Article
An evolutionary driver of interspersed segmental duplications in primates
Cantsilieris, Stuart, Sunkin, Susan M, Johnson, Matthew E, Anaclerio, Fabio, Huddleston, John, Baker, Carl, Dougherty, Max L, Underwood, Jason G, Sulovari, Arvis, Hsieh, PingHsun, Mao, Yafei, Catacchio, Claudia Rita, Malig, Maika, Welch, AnneMarie E, Sorensen, Melanie, Munson, Katherine M, Jiang, Weihong, Girirajan, Santhosh, Ventura, Mario, Lamb, Bruce T, Conlon, Ronald A, Eichler, Evan E
Published in Genome Biology (10.08.2020)
Published in Genome Biology (10.08.2020)
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Journal Article
Molecular methods for genotyping complex copy number polymorphisms
Cantsilieris, Stuart, Baird, Paul N., White, Stefan J.
Published in Genomics (San Diego, Calif.) (01.02.2013)
Published in Genomics (San Diego, Calif.) (01.02.2013)
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Journal Article
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus
Maggiolini, Flavia A M, Cantsilieris, Stuart, D'Addabbo, Pietro, Manganelli, Michele, Coe, Bradley P, Dumont, Beth L, Sanders, Ashley D, Pang, Andy Wing Chun, Vollger, Mitchell R, Palumbo, Orazio, Palumbo, Pietro, Accadia, Maria, Carella, Massimo, Eichler, Evan E, Antonacci, Francesca
Published in PLoS genetics (27.03.2019)
Published in PLoS genetics (27.03.2019)
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Journal Article
The evolution and population diversity of human-specific segmental duplications
Dennis, Megan Y, Harshman, Lana, Nelson, Bradley J, Penn, Osnat, Cantsilieris, Stuart, Huddleston, John, Antonacci, Francesca, Penewit, Kelsi, Denman, Laura, Raja, Archana, Baker, Carl, Mark, Kenneth, Malig, Maika, Janke, Nicolette, Espinoza, Claudia, Stessman, Holly A F, Nuttle, Xander, Hoekzema, Kendra, Lindsay-Graves, Tina A, Wilson, Richard K, Eichler, Evan E
Published in Nature ecology & evolution (01.01.2017)
Published in Nature ecology & evolution (01.01.2017)
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Journal Article
Recurrent inversion toggling and great ape genome evolution
Porubsky, David, Sanders, Ashley D, Höps, Wolfram, Hsieh, PingHsun, Sulovari, Arvis, Li, Ruiyang, Mercuri, Ludovica, Sorensen, Melanie, Murali, Shwetha C, Gordon, David, Cantsilieris, Stuart, Pollen, Alex A, Ventura, Mario, Antonacci, Francesca, Marschall, Tobias, Korbel, Jan O, Eichler, Evan E
Published in Nature genetics (01.08.2020)
Published in Nature genetics (01.08.2020)
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Journal Article
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration
Zhan, Xiaowei, Larson, David E, Wang, Chaolong, Koboldt, Daniel C, Sergeev, Yuri V, Fulton, Robert S, Fulton, Lucinda L, Fronick, Catrina C, Branham, Kari E, Bragg-Gresham, Jennifer, Jun, Goo, Hu, Youna, Kang, Hyun Min, Liu, Dajiang, Othman, Mohammad, Brooks, Matthew, Ratnapriya, Rinki, Boleda, Alexis, Grassmann, Felix, von Strachwitz, Claudia, Olson, Lana M, Buitendijk, Gabriëlle H S, Hofman, Albert, van Duijn, Cornelia M, Cipriani, Valentina, Moore, Anthony T, Shahid, Humma, Jiang, Yingda, Conley, Yvette P, Morgan, Denise J, Kim, Ivana K, Johnson, Matthew P, Cantsilieris, Stuart, Richardson, Andrea J, Guymer, Robyn H, Luo, Hongrong, Ouyang, Hong, Licht, Christoph, Pluthero, Fred G, Zhang, Mindy M, Zhang, Kang, Baird, Paul N, Blangero, John, Klein, Michael L, Farrer, Lindsay A, DeAngelis, Margaret M, Weeks, Daniel E, Gorin, Michael B, Yates, John R W, Klaver, Caroline C W, Pericak-Vance, Margaret A, Haines, Jonathan L, Weber, Bernhard H F, Wilson, Richard K, Heckenlively, John R, Chew, Emily Y, Stambolian, Dwight, Mardis, Elaine R, Swaroop, Anand, Abecasis, Goncalo R
Published in Nature genetics (01.11.2013)
Published in Nature genetics (01.11.2013)
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Journal Article
Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region
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
Published in Genome research (01.11.2016)
Published in Genome research (01.11.2016)
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Journal Article
Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus
Jones, Sarah A, Cantsilieris, Stuart, Fan, Huapeng, Cheng, Qiang, Russ, Brendan E, Tucker, Elena J, Harris, James, Rudloff, Ina, Nold, Marcel, Northcott, Melissa, Dankers, Wendy, Toh, Andrew E J, White, Stefan J, Morand, Eric F
Published in Scientific reports (28.10.2019)
Published in Scientific reports (28.10.2019)
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Journal Article
Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)
Grassmann, Felix, Cantsilieris, Stuart, Schulz-Kuhnt, Anja-Sabrina, White, Stefan J, Richardson, Andrea J, Hewitt, Alex W, Vote, Brendan J, Schmied, Denise, Guymer, Robyn H, Weber, Bernhard H F, Baird, Paul N
Published in Journal of neuroinflammation (18.04.2016)
Published in Journal of neuroinflammation (18.04.2016)
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Journal Article
Multiallelic copy number variation in the complement component 4A
Grassmann, Felix, Cantsilieris, Stuart, Schulz-Kuhnt, Anja-Sabrina, White, Stefan J, Richardson, Andrea J, Hewitt, Alex W, Vote, Brendan J, Schmied, Denise, Guymer, Robyn H, Weber, Bernhard H.F, Baird, Paul N
Published in Journal of neuroinflammation (18.04.2016)
Published in Journal of neuroinflammation (18.04.2016)
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Journal Article
Can genetic associations change with age? CFH and age-related macular degeneration
ADAMS, Madeleine K. M, SIMPSON, Julie A, HOPPER, John, ROBMAN, Liubov D, BAIRD, Paul N, RICHARDSON, Andrea J, GUYMER, Robyn H, WILLIAMSON, Elizabeth, CANTSILIERIS, Stuart, ENGLISH, Dallas R, ZAW AUNG, Khin, MAKEYEVA, Galina A, GILES, Graham G
Published in Human molecular genetics (01.12.2012)
Published in Human molecular genetics (01.12.2012)
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Journal Article
Almost total protection from age-related macular degeneration by haplotypes of the Regulators of Complement Activation
Williamson, Joseph F., McLure, Craig A., Guymer, Robyn H., Baird, Paul N., Millman, John, Cantsilieris, Stuart, Dawkins, Roger L.
Published in Genomics (San Diego, Calif.) (01.12.2011)
Published in Genomics (San Diego, Calif.) (01.12.2011)
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