Multifactor dimensionality reduction reveals a three-locus epistatic interaction associated with susceptibility to pulmonary tuberculosis

Por Collins, Ryan L, Hu, Ting, Wejse, Christian, Sirugo, Giorgio, Williams, Scott M, Moore, Jason H
Publicado em 2013

An information-gain approach to detecting three-way epistatic interactions in genetic association studies

Por Hu, Ting, Chen, Yuanzhu, Kiralis, Jeff W, Collins, Ryan L, Wejse, Christian, Sirugo, Giorgio, Williams, Scott M, Moore, Jason H
Publicado em 2013

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR

Por Tai, Derek J. C., Ragavendran, Ashok, Manavalan, Poornima, Stortchevoi, Alexei, Seabra, Catarina M., Erdin, Serkan, Collins, Ryan L., Blumenthal, Ian, Chen, Xiaoli, Shen, Yiping, Sahin, Mustafa, Zhang, Chengsheng, Lee, Charles, Gusella, James F., Talkowski, Michael E.
Publicado no Nat Neurosci (2016)

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

Por 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.
Publicado no Am J Hum Genet (2015)

Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay

Por Schilit, Samantha LP, Currall, Benjamin B, Yao, Ruen, Hanscom, Carrie, Collins, Ryan L, Pillalamarri, Vamsee, Lee, Dong-Young, Kammin, Tammy, Zepeda-Mendoza, Cinthya J, Mononen, Tarja, Nolan, Lisa S, Gusella, James F, Talkowski, Michael E, Shen, Jun, Morton, Cynthia C
Publicado no Eur J Hum Genet (2016)

Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders

Por 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.
Publicado em 2014

Loss of delta catenin function in severe autism

Por Turner, Tychele N., Sharma, Kamal, Oh, Edwin C., Liu, Yangfan P., Collins, Ryan L., Sosa, Maria X., Auer, Dallas R., Brand, Harrison, Sanders, Stephan J., Moreno-De-Luca, Daniel, Pihur, Vasyl, Plona, Teri, Pike, Kristen, Soppet, Daniel R., Smith, Michael W., Cheung, Sau Wai, Martin, Christa Lese, State, Matthew W., Talkowski, Michael E., Cook, Edwin, Huganir, Richard, Katsanis, Nicholas, Chakravarti, Aravinda
Publicado no Nature (2015)

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

Por Ordulu, Zehra, Kammin, Tammy, Brand, Harrison, Pillalamarri, Vamsee, Redin, Claire E., Collins, Ryan L., Blumenthal, Ian, Hanscom, Carrie, Pereira, Shahrin, Bradley, India, Crandall, Barbara F., Gerrol, Pamela, Hayden, Mark A., Hussain, Naveed, Kanengisser-Pines, Bibi, Kantarci, Sibel, Levy, Brynn, Macera, Michael J., Quintero-Rivera, Fabiola, Spiegel, Erica, Stevens, Blair, Ulm, Janet E., Warburton, Dorothy, Wilkins-Haug, Louise E., Yachelevich, Naomi, Gusella, James F., Talkowski, Michael E., Morton, Cynthia C.
Publicado no Am J Hum Genet (2016)

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

Por 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.
Publicado no Genome Biol (2017)

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

Por 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.
Publicado no Nat Genet (2016)