-
1دورية أكاديمية
المؤلفون: Kirby, Andrew, Gnirke, Andreas, Jaffe, David B, Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T, Cabili, Moran N, Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E, Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J, Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C, Xavier, Ramnik J, Pollak, Martin R, Alper, Seth L, Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J, Lander, Eric S, Daly, Mark J
المصدر: Nature Genetics. 45(3)
مصطلحات موضوعية: Biotechnology, Kidney Disease, Genetics, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Cytosine, Female, Genetic Linkage, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, Male, Minisatellite Repeats, Mucin-1, Mutation, Polycystic Kidney, Autosomal Dominant, Biological Sciences, Medical and Health Sciences, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1bm699hcTest
-
2دورية أكاديمية
المؤلفون: Collins, Ryan L., Brand, Harrison, Redin, Claire E., Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R., Glessner, Joseph T., Mason, Tamara, Dorrani, Naghmeh, 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., PREGNO, GIULIA, MANDRILE, Giorgia, GIACHINO, Daniela Francesca
المساهمون: 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.
مصطلحات موضوعية: Autism, Chromoanagenesi, Chromothripsi, Complex chromosomal rearrangement, Copynumber variation, Germline mutation, Inversion, Neurodevelopmental disorder, Structural variation, Whole-genome sequencing, Ecology, Evolution, Behavior and Systematic, Genetic, Cell Biology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28260531; info:eu-repo/semantics/altIdentifier/wos/WOS:000397112000001; volume:18; issue:1; firstpage:1; lastpage:21; numberofpages:21; journal:GENOME BIOLOGY; http://hdl.handle.net/2318/1631327Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85014470424; http://genomebiology.comTest/; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338099/pdf/13059_2017_Article_1158.pdfTest; https://genomebiology.biomedcentral.com/articles/10.1186/s13059-017-1158-6Test
الإتاحة: https://doi.org/10.1186/s13059-017-1158-6Test
http://hdl.handle.net/2318/1631327Test
http://genomebiology.comTest/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338099/pdf/13059_2017_Article_1158.pdfTest -
3دورية أكاديمية
المؤلفون: 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, Jan-Stephan, Wapner, Ronald J., Quintero-Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E.
المساهمون: UMC Utrecht, CMM Groep Kloosterman, Child Health, Cancer
مصطلحات موضوعية: Autism, Chromoanagenesis, Chromothripsis, Complex chromosomal rearrangement, Copynumber variation, Germline mutation, Inversion, Neurodevelopmental disorders, Structural variation, Whole-genome sequencing, Ecology, Evolution, Behavior and Systematics, Genetics, Cell Biology, Journal Article
وصف الملف: image/pdf
-
4دورية أكاديمية
المؤلفون: 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., Bruggenwirth, 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., Mendoza, Cinthya J. Zepeda, Menten, Bjorn, 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, Pina 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.
المصدر: Redin , C , Brand , H , Collins , R L , Kammin , T , Mitchell , E , Hodge , J C , Hanscom , C , Pillalamarri , V , Seabra , C M , Abbott , M-A , Abdul-Rahman , O A , Aberg , E , Adley , R , Alcaraz-Estrada , S L , Alkuraya , F S , An , Y , Anderson , M-A , Antolik , C , Anyane-Yeboa , K , Atkin , J F , Bartell , T , Bernstein , J A , Beyer , E ....
مصطلحات موضوعية: AUTISM SPECTRUM DISORDER, DE-NOVO MUTATIONS, SEVERE MENTAL-RETARDATION, OF-FUNCTION MUTATIONS, MICRODELETION SYNDROME, CHROMOSOME REARRANGEMENTS, INTELLECTUAL DISABILITY, STRUCTURAL VARIATION, DEVELOPMENTAL DELAY, CANCER GENOMES
الإتاحة: https://doi.org/10.1038/ng.3720Test
https://hdl.handle.net/11370/2cc769f3-7d83-4416-86f5-f75f2161ded9Test
https://research.rug.nl/en/publications/2cc769f3-7d83-4416-86f5-f75f2161ded9Test
http://europepmc.org/articles/pmc5307971?pdf=renderTest -
5تقرير
المؤلفون: Dodge, Sheila, De Smet, Timothy, Meldrim, James, Lennon, Niall, Perrin, Danielle, Ferriera, Steve, Leber, Zachary, Friedrich, Dennis, Gabriel, Stacey, Lander, Eric S., Kieffer, Don, Repenning, Nelson
وصف الملف: application/pdf
العلاقة: MIT Sloan School Working Paper;5380-18; http://hdl.handle.net/1721.1/115364Test
-
6دورية أكاديمية
المؤلفون: Costello, Maura, Pugh, Trevor J., Fennell, Timothy J., Stewart, Chip, Lichtenstein, Lee, Meldrim, James C., Fostel, Jennifer L., Friedrich, Dennis C., Perrin, Danielle, Dionne, Danielle, Kim, Sharon, Gabriel, Stacey B., Lander, Eric S., Fisher, Sheila, Getz, Gad
مصطلحات موضوعية: Methods Online
وصف الملف: text/html
العلاقة: http://nar.oxfordjournals.org/cgi/content/short/41/6/e67Test; http://dx.doi.org/10.1093/nar/gks1443Test
الإتاحة: https://doi.org/10.1093/nar/gks1443Test
http://nar.oxfordjournals.org/cgi/content/short/41/6/e67Test -
7دورية أكاديمية
المؤلفون: Costello, Maura, Pugh, Trevor J., Fennell, Timothy, Stewart, Chip, Lichtenstein, Lee, Meldrim, James C., Fostel, Jennifer L., Friedrich, Dennis C., Perrin, Danielle, Dionne, Danielle, Kim, Sharon, Gabriel, Stacey B., Fisher, Sheila, Getz, Gad, Lander, Eric Steven
المساهمون: Massachusetts Institute of Technology. Department of Biology, Lander, Eric S.
المصدر: Oxford University Press
وصف الملف: application/pdf
العلاقة: http://dx.doi.org/10.1093/nar/gks1443Test; Nucleic Acids Research; http://hdl.handle.net/1721.1/88159Test; Costello, M., T. J. Pugh, T. J. Fennell, C. Stewart, L. Lichtenstein, J. C. Meldrim, J. L. Fostel, et al. “Discovery and Characterization of Artifactual Mutations in Deep Coverage Targeted Capture Sequencing Data Due to Oxidative DNA Damage During Sample Preparation.” Nucleic Acids Research 41, no. 6 (April 1, 2013): e67–e67.
-
8دورية أكاديمية
المؤلفون: Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Baresova, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hulkova, Helena, Sovova, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey B., Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Daly, Mark J., Lander, Eric Steven
المساهمون: Massachusetts Institute of Technology. Department of Biology, Regev, Aviv, Lander, Eric S.
المصدر: Regev via Courtney Crummett
وصف الملف: application/pdf
العلاقة: http://dx.doi.org/10.1038/ng.2543Test; Nature Genetics; http://hdl.handle.net/1721.1/80712Test; Kirby, Andrew, Andreas Gnirke, David B Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, et al. “Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.” Nature Genetics 45, no. 3 (February 10, 2013): 299-303.; orcid:0000-0001-8567-2049
-
9دورية أكاديمية
المؤلفون: Lennon, Niall J, Lintner, Robert E, Anderson, Scott, Alvarez, Pablo, Barry, Andrew, Brockman, William, Daza, Riza, Erlich, Rachel L, Giannoukos, Georgia, Green, Lisa, Hollinger, Andrew, Hoover, Cindi A, Jaffe, David B, Juhn, Frank, McCarthy, Danielle, Perrin, Danielle, Ponchner, Karen, Powers, Taryn L, Rizzolo, Kamran, Robbins, Dana, Ryan, Elizabeth, Russ, Carsten, Sparrow, Todd, Stalker, John, Steelman, Scott, Weiand, Michael, Zimmer, Andrew, Henn, Matthew R, Nusbaum, Chad, Nicol, Robert
المصدر: Genome Biology ; volume 11, issue 2, page R15 ; ISSN 1465-6906
-
10
المؤلفون: Allen, Eliezer M. Van, Wagle, Nikhil, Stojanov, Petar, Perrin, Danielle L., Cibulskis, Kristian, Marlow, Sara, Jane-Valbuena, Judit, Friedrich, Dennis C., Kryukov, Gregory, Carter, Scott L., McKenna, Aaron, Sivachenko, Andrey, Rosenberg, Mara, Kiezun, Adam, Voet, Douglas, Lawrence, Michael, Lichtenstein, Lee T., Gentry, Jeff G., Huang, Franklin W., Fostel, Jennifer, Farlow, Deborah, Barbie, David, Gandhi, Leena, Lander, Eric S., Gray, Stacy W., Joffe, Steven, Janne, Pasi, Garber, Judy, MacConaill, Laura, Lindeman, Neal, Rollins, Barrett, Kantoff, Philip, Fisher, Sheila A., Gabriel, Stacey, Getz, Gad, Garraway, Levi A.
المصدر: Nature medicine
مصطلحات موضوعية: HEK293 Cells, Massachusetts, Neoplasms, Databases, Genetic, Mutagenesis, Site-Directed, Computational Biology, Humans, Exome, Sequence Analysis, DNA, Precision Medicine, Article, Algorithms, Statistics, Nonparametric
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::59c519967fa3a3dc7797db089b6ac469Test
http://europepmc.org/articles/PMC4048335Test
النص الكامل