Zoekresultaten - Collins, Ryan L.

Indexcov: fast coverage quality control for whole-genome sequencing door Pedersen, Brent S, Collins, Ryan L, Talkowski, Michael E, Quinlan, Aaron R

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Multifactor dimensionality reduction reveals a three-locus epistatic interaction associated with susceptibility to pulmonary tuberculosis door Collins, Ryan L, Hu, Ting, Wejse, Christian, Sirugo, Giorgio, Williams, Scott M, Moore, Jason H

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An information-gain approach to detecting three-way epistatic interactions in genetic association studies door Hu, Ting, Chen, Yuanzhu, Kiralis, Jeff W, Collins, Ryan L, Wejse, Christian, Sirugo, Giorgio, Williams, Scott M, Moore, Jason H

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Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency door Lilleväli, Hardo, Pajusalu, Sander, Wojcik, Monica H., Goodrich, Julia, Collins, Ryan L., Murumets, Ülle, Tammur, Pille, Blau, Nenad, Lilleväli, Kersti, Õunap, Katrin

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Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR door 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.

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

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

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Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs door Jung, Roy, Lee, Yejin, Barker, Douglas, Correia, Kevin, Shin, Baehyun, Loupe, Jacob, Collins, Ryan L, Lucente, Diane, Ruliera, Jayla, Gillis, Tammy, Mysore, Jayalakshmi S, Rodan, Lance, Picker, Jonathan, Lee, Jong-Min, Howland, David, Lee, Ramee, Kwak, Seung, MacDonald, Marcy E, Gusella, James F, Seong, Ihn Sik

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Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders door 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.

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Functional annotation of rare structural variation in the human brain door 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.

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Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript door Wahlster, Lara, Verboon, Jeffrey M., Ludwig, Leif S., Black, Susan C., Luo, Wendy, Garg, Kopal, Voit, Richard A., Collins, Ryan L., Garimella, Kiran, Costello, Maura, Chao, Katherine R., Goodrich, Julia K., DiTroia, Stephanie P., O’Donnell-Luria, Anne, Talkowski, Michael E., Michelson, Alan D., Cantor, Alan B., Sankaran, Vijay G.

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Whole genome sequencing to characterize monogenic and polygenic contributions in patients hospitalized with early-onset myocardial infarction door Khera, Amit V., Chaffin, Mark, Zekavat, Seyedeh Maryam, Collins, Ryan L., Roselli, Carolina, Natarajan, Pradeep, Lichtman, Judith H., D’Onofrio, Gail, Mattera, Jennifer, Dreyer, Rachel, Spertus, John A., Taylor, Kent D., Psaty, Bruce M., Rich, Stephen S., Post, Wendy, Gupta, Namrata, Gabriel, Stacey, Lander, Eric, Chen, Yii-Der Ida, Talkowski, Michael E., Rotter, Jerome I., Krumholz, Harlan M., Kathiresan, Sekar

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Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies door Zhao, Xuefang, Collins, Ryan L., Lee, Wan-Ping, Weber, Alexandra M., Jun, Yukyung, Zhu, Qihui, Weisburd, Ben, Huang, Yongqing, Audano, Peter A., Wang, Harold, Walker, Mark, Lowther, Chelsea, Fu, Jack, Gerstein, Mark B., Devine, Scott E., Marschall, Tobias, Korbel, Jan O., Eichler, Evan E., Chaisson, Mark J.P., Lee, Charles, Mills, Ryan E., Brand, Harrison, Talkowski, Michael E.

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Loss of delta catenin function in severe autism door 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

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Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes door Halgren, Christina, Nielsen, Nete M., Nazaryan-Petersen, Lusine, Silahtaroglu, Asli, Collins, Ryan L., Lowther, Chelsea, Kjaergaard, Susanne, Frisch, Morten, Kirchhoff, Maria, Brøndum-Nielsen, Karen, Lind-Thomsen, Allan, Mang, Yuan, El-Schich, Zahra, Boring, Claire A., Mehrjouy, Mana M., Jensen, Peter K.A., Fagerberg, Christina, Krogh, Lotte N., Hansen, Jan, Bryndorf, Thue, Hansen, Claus, Talkowski, Michael E., Bak, Mads, Tommerup, Niels, Bache, Iben

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

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

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Implication of LRRC4C and DPP6 in neurodevelopmental disorders door Maussion, Gilles, Cruceanu, Cristiana, Rosenfeld, Jill A., Bell, Scott C., Jollant, Fabrice, Szatkiewicz, Jin, Collins, Ryan L., Hanscom, Carrie, Kolobova, Ilaria, de Champfleur, Nicolas Menjot, Blumenthal, Ian, Chiang, Colby, Ota, Vanessa, Hultman, Christina, O’Dushlaine, Colm, McCarroll, Steve, Alda, Martin, Jacquemont, Sebastien, Ordulu, Zehra, Marshall, Christian R., Carter, Melissa T., Shaffer, Lisa G., Sklar, Pamela, Girirajan, Santhosh, Morton, Cynthia C., Gusella, James F., Turecki, Gustavo, Stavropoulos, D. J., Sullivan, Patrick F., Scherer, Stephen W., Talkowski, Michael E., Ernst, Carl

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Genome-wide enhancer maps link risk variants to disease genes door Nasser, Joseph, Bergman, Drew T., Fulco, Charles P., Guckelberger, Philine, Doughty, Benjamin R., Patwardhan, Tejal A., Jones, Thouis R., Nguyen, Tung H., Ulirsch, Jacob C., Lekschas, Fritz, Mualim, Kristy, Natri, Heini M., Weeks, Elle M., Munson, Glen, Kane, Michael, Kang, Helen Y., Cui, Ang, Ray, John P., Eisenhaure, Thomas M., Collins, Ryan L., Dey, Kushal, Pfister, Hanspeter, Price, Alkes L., Epstein, Charles B., Kundaje, Anshul, Xavier, Ramnik J., Daly, Mark J., Huang, Hailiang, Finucane, Hilary K., Hacohen, Nir, Lander, Eric S., Engreitz, Jesse M.

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Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder door An, Joon-Yong, Lin, Kevin, Zhu, Lingxue, Werling, Donna M., Dong, Shan, Brand, Harrison, Wang, Harold Z., Zhao, Xuefang, Schwartz, Grace B., Collins, Ryan L., Currall, Benjamin B., Dastmalchi, Claudia, Dea, Jeanselle, Duhn, Clif, Gilson, Michael C., Klei, Lambertus, Liang, Lindsay, Markenscoff-Papadimitriou, Eirene, Pochareddy, Sirisha, Ahituv, Nadav, Buxbaum, Joseph D., Coon, Hilary, Daly, Mark J., Kim, Young Shin, Marth, Gabor T., Neale, Benjamin M., Quinlan, Aaron R., Rubenstein, John L., Sestan, Nenad, State, Matthew W., Willsey, A. Jeremy, Talkowski, Michael E., Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J.

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