Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

af Brand, Harrison, Collins, Ryan L., Hanscom, Carrie, Rosenfeld, Jill A., Pillalamarri, Vamsee, Stone, Matthew R., Kelley, Fontina, Mason, Tamara, Margolin, Lauren, Eggert, Stacey, Mitchell, Elyse, Hodge, Jennelle C., Gusella, James F., Sanders, Stephan J., Talkowski, Michael E.
Udgivet i Am J Hum Genet (2015)

Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders

af Brand, Harrison, Pillalamarri, Vamsee, Collins, Ryan L., Eggert, Stacey, O’Dushlaine, Colm, Braaten, Ellen B., Stone, Matthew R., Chambert, Kimberly, Doty, Nathan D., Hanscom, Carrie, Rosenfeld, Jill A., Ditmars, Hillary, Blais, Jessica, Mills, Ryan, Lee, Charles, Gusella, James F., McCarroll, Steven, Smoller, Jordan W., Talkowski, Michael E., Doyle, Alysa E.
Udgivet 2014

Functional annotation of rare structural variation in the human brain

af Han, Lide, Zhao, Xuefang, Benton, Mary Lauren, Perumal, Thaneer, Collins, Ryan L., Hoffman, Gabriel E., Johnson, Jessica S., Sloofman, Laura, Wang, Harold Z., Stone, Matthew R., Brennand, Kristen J., Brand, Harrison, Sieberts, Solveig K., Marenco, Stefano, Peters, Mette A., Lipska, Barbara K., Roussos, Panos, Capra, John A., Talkowski, Michael, Ruderfer, Douglas M.
Udgivet i Nat Commun (2020)

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

af Collins, Ryan L., Brand, Harrison, Redin, Claire E., Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R., Glessner, Joseph T., Mason, Tamara, Pregno, Giulia, Dorrani, Naghmeh, Mandrile, Giorgia, Giachino, Daniela, Perrin, Danielle, Walsh, Cole, Cipicchio, Michelle, Costello, Maura, Stortchevoi, Alexei, An, Joon-Yong, Currall, Benjamin B., Seabra, Catarina M., Ragavendran, Ashok, Margolin, Lauren, Martinez-Agosto, Julian A., Lucente, Diane, Levy, Brynn, Sanders, Stephan J., Wapner, Ronald J., Quintero-Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E.
Udgivet i Genome Biol (2017)

Mutations in DCHS1 Cause Mitral Valve Prolapse

af Durst, Ronen, Sauls, Kimberly, Peal, David S, deVlaming, Annemarieke, Toomer, Katelynn, Leyne, Maire, Salani, Monica, Talkowski, Michael E., Brand, Harrison, Perrocheau, Maëlle, Simpson, Charles, Jett, Christopher, Stone, Matthew R., Charles, Florie, Chiang, Colby, Lynch, Stacey N., Bouatia-Naji, Nabila, Delling, Francesca N., Freed, Lisa A., Tribouilloy, Christophe, Le Tourneau, Thierry, LeMarec, Hervé, Fernandez-Friera, Leticia, Solis, Jorge, Trujillano, Daniel, Ossowski, Stephan, Estivill, Xavier, Dina, Christian, Bruneval, Patrick, Chester, Adrian, Schott, Jean-Jacques, Irvine, Kenneth D., Mao, Yaopan, Wessels, Andy, Motiwala, Tahirali, Puceat, Michel, Tsukasaki, Yoshikazu, Menick, Donald R., Kasiganesan, Harinath, Nie, Xingju, Broome, Ann-Marie, Williams, Katherine, Johnson, Amanda, Markwald, Roger R., Jeunemaitre, Xavier, Hagege, Albert, Levine, Robert A., Milan, David J., Norris, Russell A., Slaugenhaupt, Susan A.
Udgivet i Nature (2015)

A structural variation reference for medical and population genetics

af Collins, Ryan L., Brand, Harrison, Karczewski, Konrad J., Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C., Khera, Amit V., Lowther, Chelsea, Gauthier, Laura D., Wang, Harold, Watts, Nicholas A., Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W., Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R., Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M., Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D., Lin, Henry J., Rich, Stephen S., Post, Wendy S., Chen, Yii-Der Ida, Rotter, Jerome I., Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M., Kathiresan, Sekar, Daly, Mark J., Banks, Eric, MacArthur, Daniel G., Talkowski, Michael E.
Udgivet i Nature (2020)

Author Correction: A structural variation reference for medical and population genetics

af Collins, Ryan L., Brand, Harrison, Karczewski, Konrad J., Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C., Khera, Amit V., Lowther, Chelsea, Gauthier, Laura D., Wang, Harold, Watts, Nicholas A., Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W., Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R., Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M., Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D., Lin, Henry J., Rich, Stephen S., Post, Wendy S., Chen, Yii-Der Ida, Rotter, Jerome I., Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M., Kathiresan, Sekar, Daly, Mark J., Banks, Eric, MacArthur, Daniel G., Talkowski, Michael E.
Udgivet i Nature (2021)

An analytical framework for whole genome sequence association studies and its implications for autism spectrum disorder

af Werling, Donna M., Brand, Harrison, An, Joon-Yong, Stone, Matthew R., Zhu, Lingxue, Glessner, Joseph T., Collins, Ryan L., Dong, Shan, Layer, Ryan M., Markenscoff-Papadimitriou, Eirene, Farrell, Andrew, Schwartz, Grace B., Wang, Harold Z., Currall, Benjamin B., Zhao, Xuefang, Dea, Jeanselle, Duhn, Clif, Erdman, Carolyn A., Gilson, Michael C., Yadav, Rachita, Handsaker, Robert E., Kashin, Seva, Klei, Lambertus, Mandell, Jeffrey D., Nowakowski, Tomasz J., Liu, Yuwen, Pochareddy, Sirisha, Smith, Louw, Walker, Michael F., Waterman, Mathew J., He, Xin, Kriegstein, Arnold R., Rubenstein, John L., Sestan, Nenad, McCarroll, Steven A., Neale, Benjamin M., Coon, Hilary, Willsey, A. Jeremy, Buxbaum, Joseph D., Daly, Mark J., State, Matthew W., Quinlan, Aaron R., Marth, Gabor T., Roeder, Kathryn, Devlin, Bernie, Talkowski, Michael E., Sanders, Stephan J.
Udgivet i Nat Genet (2018)

The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

af Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.
Udgivet i Nat Genet (2016)