المؤلفون: Shanta, O., Noor, A., Sebat, J., Chaisson, M., Sanders, A., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E., Rodriguez, O., Guo, L., Collins, R., Fan, X., Wen, J., Handsaker, R., Fairley, S., Kronenberg, Z., Kong, X., Hormozdiari, F., Lee, D., Wenger, A., Hastie, A., Antaki, D., Anantharaman, T., Audano, P., Brand, H., Cantsilieris, S., Cao, H., Cerveira, E., Chen, C., Chen, X., Chin, C., Chong, Z., Chuang, N., Lambert, C., Church, D., Clarke, L., Farrell, A., Flores, J., Galeey, T., Gujral, M., Guryev, V., Heaton, W., Korlach, J., Kumar, S., Kwon, J., Lam, E., Lee, J., Lee, W., Lee, S., Li, S., Marks, P., Viaud-Martinez, K., Meiers, S., Munson, K., Navarro, F., Nelson, B., Nodzak, C., Kyriazopoulou-Panagiotopoulou, S., Pang, A., Rosanio, G., Ryan, M., Stuetz, A., Spierings, D., Ward, A., Welch, A., Xiao, M., Xu, W., Zhang, C., Zhu, Q., Zheng-Bradley, X., Lowy, E., Yakneen, S., McCarroll, S., Jun, G., Ding, L., Koh, C., Flicek, P., Chen, K., Gerstein, M., Kwok, P., Lansdorp, P., Marth, G., Shi, X., Bashir, A., Ye, K., Devine, S., Talkowski, M., Mills, R., Marschall, T., Korbel, J., Eichler, E., Lee, C.

المساهمون: HGSVC

المصدر: BMC Genomics

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-0006-8E73-9; http://hdl.handle.net/21.11116/0000-0006-8E75-7

الاتاحة: http://hdl.handle.net/21.11116/0000-0006-8E73-9
http://hdl.handle.net/21.11116/0000-0006-8E75-7

المؤلفون: Chaisson, M., Sanders, A., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E., Rodriguez, O., Guo, L., Collins, R., Fan, X., Wen, J., Handsaker, R., Fairley, S., Kronenberg, Z., Kong, X., Hormozdiari, F., Lee, D., Wenger, A., Hastie, A., Antaki, D., Anantharaman, T., Audano, P., Brand, H., Cantsilieris, S., Cao, H., Cerveira, E., Chen, C., Chen, X., Chin, C., Chong, Z., Chuang, N., Lambert, C., Church, D., Clarke, L., Farrell, A., Flores, J., Galeev, T., Gorkin, D., Gujral, M., Guryev, V., Heaton, W., Korlach, J., Kumar, S., Kwon, J., Lam, E., Lee, J., Lee, W., Lee, S., Li, S., Marks, P., Viaud-Martinez, K., Meiers, S., Munson, K., Navarro, F., Nelson, B., Nodzak, C., Noor, A., Kyriazopoulou-Panagiotopoulou, S., Pang, A., Qiu, Y., Rosanio, G., Ryan, M., Stuetz, A., Spierings, D., Ward, A., Welch, A., Xiao, M., Xu, W., Zhang, C., Zhu, Q., Zheng-Bradley, X., Lowy, E., Yakneen, S., McCarroll, S., Jun, G., Ding, L., Koh, C., Ren, B., Flicek, P., Chen, K., Gerstein, M., Kwok, P., Lansdorp, P., Marth, G., Sebat, J., Shi, X., Bashir, A., Ye, K., Devine, S., Talkowski, M., Mills, R., Marschall, T., Korbel, J., Eichler, E., Lee, C.

المصدر: Nature Communications

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-0003-865E-D; http://hdl.handle.net/21.11116/0000-0003-8660-9

الاتاحة: http://hdl.handle.net/21.11116/0000-0003-865E-D
http://hdl.handle.net/21.11116/0000-0003-8660-9

المؤلفون: Morleo M., Venditti R., Theodorou E., Briere L. C., Rosello M., Tirozzi A., Tammaro R., Al-Badri N., High F. A., Shi J., Acosta M. T., Adam M., Adams D. R., Alvarez R. L., Alvey J., Amendola L., Andrews A., Ashley E. A., Bacino C. A., Bademci G., Balasubramanyam A., Baldridge D., Bale J., Bamshad M., Barbouth D., Bayrak-Toydemir P., Beck A., Beggs A. H., Behrens E., Bejerano G., Bellen H. J., Bennett J., Berg-Rood B., Bernstein J. A., Berry G. T., Bican A., Bivona S., Blue E., Bohnsack J., Bonner D., Botto L., Boyd B., Brown G., Burke E. A., Burrage L. C., Butte M. J., Byers P., Byrd W. E., Carey J., Carrasquillo O., Cassini T., Chang T. C. P., Chanprasert S., Chao H. -T., Clark G. D., Coakley T. R., Cobban L. A., Cogan J. D., Coggins M., Cole F. S., Colley H. A., Cooper C. M., Cope H., Corona R., Craigen W. J., Crouse A. B., Cunningham M., D'Souza P., Dai H., Dasari S., Davis J., Dayal J. G., Dell'Angelica E. C., Dipple K., Doherty D., Dorrani N., Doss A. L., Douine E. D., Earl D., Eckstein D. J., Emrick L. T., Eng C. M., Falk M., Fieg E. L., Fisher P. G., Fogel B. L., Forghani I., Gahl W. A., Glass I., Gochuico B., Goddard P. C., Godfrey R. A., Golden-Grant K., Grajewski A., Hadley D., Hahn S., Halley M. C., Hamid R., Hassey K., Hayes N., High F., Hing A., Hisama F. M., Holm I. A., Hom J., Horike-Pyne M., Huang A., Hutchison S., Introne W., Isasi R., Izumi K., Jamal F., Jarvik G. P., Jarvik J., Jayadev S., Jean-Marie O., Jobanputra V., Karaviti L., Ketkar S., Kiley D., Kilich G., Kobren S. N., Kohane I. S., Kohler J. N., Korrick S., Kozuira M., Krakow D., Krasnewich D. M., Kravets E., Lalani S. R., Lam B., Lam C., Lanpher B. C., Lanza I. R., LeBlanc K., Lee B. H., Levitt R., Lewis R. A., Liu P., Liu X. Z., Longo N., Loo S. K., Loscalzo J., Maas R. L., Macnamara E. F., MacRae C. A., Maduro V. V., Maghiro A., Mahoney R., Malicdan M. C. V., Mamounas L. A., Manolio T. A., Mao R., Maravilla K., Marom R., Marth G., Martin B. A., Martin M. G., Martinez-Agosto J. A., Marwaha S., McCauley J., McConkie-Rosell A., McCray A. T., McGee E., Mefford H., Merritt J. L., Might M., Mirzaa G., Morava E., Moretti P., Mulvihill J., Nakano-Okuno M., Nelson S. F., Newman J. H., Nicholas S. K., Nickerson D., Nieves-Rodriguez S., Novacic D., Oglesbee D., Orengo J. P., Pace L., Pak S., Pallais J. C., Palmer C. G. S., Papp J. C., Parker N. H., Phillips III J. A., Posey J. E., Potocki L., Pusey Swerdzewski B. N., Quinlan A., Rao D. A., Raper A., Raskind W., Renteria G., Reuter C. M., Rives L., Robertson A. K., Rodan L. H., Rosenfeld J. A., Rosenwasser N., Rossignol F., Ruzhnikov M., Sacco R., Sampson J. B., Saporta M., Schaechter J., Schedl T., Schoch K., Scott D. A., Scott C. R., Shashi V., Shin J., Silverman E. K., Sinsheimer J. S., Sisco K., Smith E. C., Smith K. S., Solnica-Krezel L., Solomon B., Spillmann R. C., Stoler J. M., Sullivan K., Sullivan J. A., Sun A., Sutton S., Sweetser D. A., Sybert V., Tabor H. K., Tan Q. K. -G., Tan A. L. M., Tekin M., Telischi F., Thorson W., Tifft C. J., Toro C., Tran A. A., Ungar R. A., Urv T. K., Vanderver A., Velinder M., Viskochil D., Vogel T. P., Wahl C. E., Walker M., Wallace S., Walley N. M., Wambach J., Wan J., Wang L. -K., Wangler M. F., Ward P. A., Wegner D., Weisz Hubshman M., Wener M., Wenger T., Westerfield M., Wheeler M. T., Whitlock J., Wolfe L. A., Worley K., Xiao C., Yamamoto S., Yang J., Zhang Z., Zuchner S., Nigro V., Torella A., Spampanato C., Pinelli M., Banfi S., Varavallo A., Selicorni A., Mariani M., Massimello M., Daolio C., Capra V., Accogli A., Scala M., Leuzzi V., Nardecchia F., Galosi S., Mastrangelo M., Milani D., Vitiello G., Piluso G., Romano C., Failla P., Greco D., Pantaleoni C., Ciaccio C., D'Arrigo S., Brunetti Pierri N., Parenti G., Coppola A., Mattina T., Zollino M., Amenta S., Tummolo A., Santoro C., Grandone A., De Brasi D., Varone A., Garavelli L., Marini C., Bigoni S., Piscopo C., Trabacca A., De Rinaldis M., Peron A., Putti E., Ferrante L., Cetrangolo V., Walker M. A., Tenconi R., Iascone M., Mei D., Guerrini R., van der Smagt J., Kroes H. Y., van Gassen K. L. I., Bilal M., Umair M., Pingault V., Attie-Bitach T., Amiel J., Ejaz R., Rodan L., Agrawal P. B., Del Bene F., Franco B.

المساهمون: Morleo, M., Venditti, R., Theodorou, E., Briere, L. C., Rosello, M., Tirozzi, A., Tammaro, R., Al-Badri, N., High, F. A., Shi, J., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. -T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N.

مصطلحات موضوعية: PIP5K1C, de novo gain-of-function variant, developmental delay, endosome, intellectual disability, phosphatidylinositol 4,5 bisphosphate (PI(4,5)P(2)), phosphoinositide, zebrafish

Relation: info:eu-repo/semantics/altIdentifier/pmid/37451268; info:eu-repo/semantics/altIdentifier/wos/WOS:001052941700001; volume:110; issue:8; firstpage:1377; lastpage:1393; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11591/544390

الاتاحة: https://hdl.handle.net/11591/544390
https://doi.org/10.1016/j.ajhg.2023.06.012

المؤلفون: Niggl, E., Bouman, A., Briere, L.C., Hoogenboezem, R.M., Wallaard, I., Park, J., Admard, J., Wilke, M., Harris-Mostert, E.D.R.O., Elgersma, M., Bain, J., Balasubramanian, M., Banka, S., Benke, P.J., Bertrand, M., Blesson, A.E., Clayton-Smith, J., Ellingford, J.M., Gillentine, M.A., Goodloe, D.H., Haack, T.B., Jain, M., Krantz, I., Luu, S.M., McPheron, M., Muss, C.L., Raible, S.E., Robin, N.H., Spiller, M., Starling, S., Sweetser, D.A., Thiffault, I., Vetrini, F., Witt, D., Woods, E., Zhou, D., Elgersma, Y., van Esbroeck, A.C.M., Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Acosta, M.T., Adams, D.R., Alvarez, R.L., Alvey, J., Allworth, A., Andrews, A., Ashley, E.A., Afzali, B., Bacino, C.A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A.H., Behrens, E., Bejerano, G., Bellen, H.J., Bennet, J., Bernstein, J.A., Berry, G.T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Brown, G., Burke, E.A., Burrage, L.C., Butte, M.J., Byers, P., Byrd, W.E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T.C., Chanprasert, S., Chao, H.-T., Chinn, I., Clark, G.D., Coakley, T.R., Cobban, L.A., Cogan, J.D., Coggins, M., Cole, F.S., Colley, H.A., Cope, H., Corona, R., Craigen, W.J., Crouse, A.B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J.G., Delgado, M., Dell'Angelica, E.C., Dipple, K., Doherty, D., Dorrani, N., Doss, A.L., Douine, E.D., Earl, D., Eckstein, D.J., Emrick, L.T., Eng, C.M., Falk, M., Fieg, E.L., Fisher, P.G., Fogel, B.L., Forghani, I., Fu, J., Gahl, W.A., Glass, I., Goddard, P.C., Godfrey, R.A., Grajewski, A., Halley, M.C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F.M., Holm, I.A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G.P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S.N., Kohane, I.S., Kohler, J.N., Korrick, S., Krakow, D., Krasnewich, D.M., Kravets, E., Lalani, S.R., Lam, B., Lam, C., Lanpher, B.C., Lanza, I.R., LeBlanc, K., Lee, B.H., Levitt, R., Lewis, R.A., Liu, P., Liu, X.Z., Longo, N., Loo, S.K., Loscalzo, J., Maas, R.L., Macnamara, E.F., MacRae, C.A., Maduro, V.V., Maghiro, A., Mahoney, R., Malicdan, M.C., Mamounas, L.A., Manolio, T.A., Mao, R., Marom, R., Marth, G., Martin, B.A., Martin, M.G., Martínez-Agosto, J.A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A.T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J.J., Nakano-Okuno, M., Nelson, S.F., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J.P., Pace, L., Pak, S., Pallais, J.C., Papp, J.C., Parker, N.H., Petcharet, L., Phillips, J.A., Posey, J.E., Potocki, L., Swerdzewski, B.N., Quinlan, A., Rao, D.A., Raper, A., Raskind, W., Renteria, G., Reuter, C., Rives, L., Robertson, A.K., Rodan, L.H., Rosenfeld, J.A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Sabaii, M., Sacco, R., Sampson, J.B., Saporta, M., Schaechter, J., Schedl, T., Schoch, K., Scott, D.A., Seto, E., Sharma, P., Shashi, V., Shelkowitz, E., Sheppeard, S., Shin, J., Silverman, E., Sinsheimer, J., Sisco, K., Smith, E., Smith, K., Solnica-Krezel, L., Solomon, B., Spillmann, R., Stergachis, A., Stoler, J., Sullivan, K., Sullivan, J., Sutton, S., Sybert, V., Tabor, H.K., Tan, Q.K.-G., Tan, A.L., Tarakad, A., Tekin, M., Telischi, F., Thorson, W., Tifft, C., Toro, C., Tran, A.A., Ungar, R.A., Urv, T.K., Vanderver, A., Velinder, M., Viskochil, D., Vogel, T.P., Wahl, C.E., Walker, M., Walley, N.M., Wambach, J., Wan, J., Wang, L.-K., Wangler, M.F., Ward, P.A., Wegner, D., Weisz, M., Wener, M., Wenger, T., Westerfield, M., Wheeler, M.T., Whitlock, J., Wolfe, L.A., Yamamoto, S., Zhang, Z., Zuchner, S.

Relation: Niggl, E. orcid.org/0000-0002-5654-8425 , Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297

الاتاحة: https://eprints.whiterose.ac.uk/208871/

المؤلفون: Khorashad, J S, Tantravahi, S K, Yan, D, Mason, C C, Qiao, Y, Eiring, A M, Gligorich, K, Hein, T, Pomicter, A D, Reid, A G, Kelley, T W, Marth, G T, O'Hare, T, Deininger, M W

المصدر: Leukemia ; volume 30, issue 11, page 2275-2279 ; ISSN 0887-6924 1476-5551

الاتاحة: http://dx.doi.org/10.1038/leu.2016.218
https://www.nature.com/articles/leu2016218.pdf
https://www.nature.com/articles/leu2016218

المؤلفون: Khurana, E., Fu, Y., Colonna, V., Mu, X., Kang, H., Lappalainen, T., Sboner, A., Lochovsky, L., Chen, J., Harmanci, A., Das, J., Abyzov, A., Balasubramanian, S., Beal, K., Chakravarty, D., Challis, D., Chen, Y., Clarke, D., Clarke, L., Cunningham, F., Evani, U., Flicek, P., Fragoza, R., Garrison, E., Gibbs, R., Gumus, Z., Herrero, J., Kitabayashi, N., Kong, Y., Lage, K., Liluashvili, V., Lipkin, S., MacArthur, D., Marth, G., Muzny, D., Pers, T., Ritchie, G., Rosenfeld, J., Sisu, C., Wei, X., Wilson, M., Xue, Y., Yu, F., 1000 Genomes Project, C., Lehrach, H., Sudbrak, R., Albrecht, M., Amstislavskiy, V., Borodina, T., Lienhard, M., Mertes, F., Sultan, M., Timmermann, B., Yaspo, M., Dermitzakis, E., Yu, H., Rubin, M., Tyler-Smith, C., Gerstein, M.

المصدر: Science

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pissn/1095-9203 (Electronic)0036-8075 (Print); http://hdl.handle.net/11858/00-001M-0000-0019-02F5-1; http://hdl.handle.net/11858/00-001M-0000-0019-02F9-A

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-0019-02F5-1
http://hdl.handle.net/11858/00-001M-0000-0019-02F9-A

المؤلفون: Abecasis, G., Auton, A., Brooks, L., DePristo, M., Durbin, R., Handsaker, R., Kang, H., Marth, G., McVean, G., The 1000 Genomes Project Consortium, Sudbrak, R., Albrecht, M., Amstislavskiy, V., Borodina, T., Davydov, A., Herwig, R., Lienhard, M., Mertes, F., Sultan, M., Timmermann, B., Yaspo, M., Lehrach, H.

المصدر: Nature

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pissn/1476-4687; http://hdl.handle.net/11858/00-001M-0000-000E-CA29-B; http://hdl.handle.net/11858/00-001M-0000-000E-CA6F-2

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-000E-CA29-B
http://hdl.handle.net/11858/00-001M-0000-000E-CA6F-2

المؤلفون: Welch, Marth G

مصطلحات موضوعية: Therapeutics

وصف الملف: text/html

Relation: http://ebmh.bmj.com/cgi/content/short/ebmh.2011.100131v1; http://dx.doi.org/10.1136/ebmh.2011.100131

الاتاحة: http://ebmh.bmj.com/cgi/content/short/ebmh.2011.100131v1
https://doi.org/10.1136/ebmh.2011.100131

المؤلفون: Runge, C.L., Indap, A., Zhou, Y., Kent, J.W., King, E., Erbe, C.B., Cole, R., Littrell, J., Merath, K., James, R., Rüschendorf, F., Kerschner, J.E., Marth, G., Hübner, N., Göring, H.H.H., Friedland, D.R., Kwok, W.M., Olivier, M.

مصطلحات موضوعية: Cardiovascular and Metabolic Diseases, otorhinolaryngologic diseases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=mdc______med::51985e438e0554a2940d76b8c83b812a
http://edoc.mdc-berlin.de/16117/1/16117oa.pdf

المؤلفون: Farrell, A, Thirugnanam, S, Lorestani, A, Dvorin, J, Eidell, K, Ferguson, D, Anderson-White, B, Duraisingh, M, Marth, G, Gubbels, M

Relation: https://ora.ox.ac.uk/objects/uuid:f7fcf25e-73d5-4b4a-b85a-b567b2ef9bc0; https://doi.org/10.1126/science.1210829

الاتاحة: https://doi.org/10.1126/science.1210829
https://ora.ox.ac.uk/objects/uuid:f7fcf25e-73d5-4b4a-b85a-b567b2ef9bc0

المؤلفون: Dear, S, Durbin, R, Hillier, L, Marth, G, Thierry-Mieg, J, Mott, R

Relation: https://ora.ox.ac.uk/objects/uuid:90724272-a013-42c0-b1f1-7f99417d78af; https://doi.org/10.1101/gr.8.3.260

الاتاحة: https://doi.org/10.1101/gr.8.3.260
https://ora.ox.ac.uk/objects/uuid:90724272-a013-42c0-b1f1-7f99417d78af

المؤلفون: Mills, R, Walter, K, Stewart, C, Handsaker, R, Chen, K, Alkan, C, Abyzov, A, Yoon, S, Ye, K, Cheetham, R, Chinwalla, A, Conrad, D, Fu, Y, Grubert, F, Hajirasouliha, I, Hormozdiari, F, Iakoucheva, L, Iqbal, Z, Kang, S, Kidd, J, Konkel, M, Korn, J, Khurana, E, Kural, D, Lam, H, Leng, J, Li, R, Li, Y, Lin, C, Luo, R, Mu, X, Nemesh, J, Peckham, H, Rausch, T, Scally, A, Shi, X, Stromberg, M, Stütz, A, Urban, A, Walker, J, Wu, J, Zhang, Y, Zhang, Z, Batzer, M, Ding, L, Marth, G, McVean, G, Sebat, J, Snyder, M, Wang, J, Eichler, E, Gerstein, M, Hurles, M, Lee, C, McCarroll, SA, Korbel, J

Relation: https://ora.ox.ac.uk/objects/uuid:7a18565c-793a-4447-b6c4-e66087fb9e3a; https://doi.org/10.1038/nature09708

الاتاحة: https://doi.org/10.1038/nature09708
https://ora.ox.ac.uk/objects/uuid:7a18565c-793a-4447-b6c4-e66087fb9e3a

المؤلفون: Danecek, P, Auton, A, Abecasis, G, Albers, C, Banks, E, DePristo, M, Handsaker, R, Lunter, G, Marth, G, Sherry, S, McVean, G, Durbin, R

Relation: https://ora.ox.ac.uk/objects/uuid:065b1c9a-2a19-4ea2-b5e7-5802d0d3496d; https://doi.org/10.1093/bioinformatics/btr330

الاتاحة: https://doi.org/10.1093/bioinformatics/btr330
https://ora.ox.ac.uk/objects/uuid:065b1c9a-2a19-4ea2-b5e7-5802d0d3496d

المؤلفون: Sudmant P.H., Rausch, T., Gardner, E.J., Handsaker, R.E., Abyzov, A., Huddleston J., Zhang, Y., Ye, K., Jun G., Fritz, M.H.-Y., Konkel, M.K., Malhotra, A., Stütz, A.M., Shi X., Casale F.P., Chen J., Hormozdiari F., Dayama G., Chen, K., Malig, M., Chaisson, M.J.P., Walter, K., Meiers, S., Kashin, S., Garrison, E., Auton, A., Lam H.Y.K., Mu X.J., Alkan, C., Antaki, D., Bae, T., Cerveira, E., Chines P., Chong, Z., Clarke L., Dal, E., Ding L., Emery, S., Fan X., Gujral, M., Kahveci F., Kidd J.M., Kong, Y., Lameijer, E.-W., McCarthy, S., Flicek P., Gibbs, R.A., Marth G., Mason, C.E., Menelaou, A., Muzny, D.M., Nelson, B.J., Noor, A., Parrish, N.F., Pendleton, M., Quitadamo, A., Raeder, B., Schadt, E.E., Romanovitch, M., Schlattl, A., Sebra, R., Shabalin, A.A., Untergasser, A., Walker J.A., Wang, M., Yu F., Zhang, C., Zhang J., Zheng-Bradley X., Zhou W., Zichner, T., Sebat J., Batzer, M.A., McCarroll, S.A., Mills, R.E., Gerstein, M.B., Bashir, A., Stegle O., Devine, S.E., Lee, C., Eichler, E.E., Korbel J.O.

المصدر: Nature

مصطلحات موضوعية: dual specificity phosphatase, dual specificity phosphatase 22, glycoprotein, serine proteinase inhibitor, SPINK14 protein, unclassified drug, Article, clinical article, demography, disease association, DNA sequence, gene inactivation, gene linkage disequilibrium, gene loss, gene mapping, gene structure, genetic association, genetic variability, genotype, haplotype, homozygosity, human, human genetics, human genome, intron, polymerase chain reaction, priority journal, quantitative trait locus, single nucleotide polymorphism, untranslated region

وصف الملف: application/pdf

Relation: http://dx.doi.org/10.1038/nature15394; 280836; http://hdl.handle.net/11693/20914

الاتاحة: http://hdl.handle.net/11693/20914
https://doi.org/10.1038/nature15394

المؤلفون: Colonna, V., Ayub, Q., Chen, Y., Pagani, L., Luisi, P., Pybus, M., Garrison, E., Xue, Y., Tyler-Smith, C., The 1000 Genomes Project Consortium, Abecasis, G. R., Auton, A., Brooks, L. D., Depristo, M. A., Durbin, R. M., Handsaker, R. E., Kang, H. M., Marth, G. T., McVean, Ga, Altshuler, D. M., Bentley, D. R., Chakravarti, A., Clark, A. G., Donnelly, P., Eichler, E. E., Flicek, P., Gabriel, S. B., Gibbs, R. A., Green, E. D.

مصطلحات موضوعية: 1105 Ecology, Evolution, Behavior and Systematics, 1307 Cell Biology, 1311 Genetics

Relation: 098051

الاتاحة: https://espace.library.uq.edu.au/view/UQ:f4d30d9

المؤلفون: Verhaak, R.G.W., Qiao, Y., Kim, H., Chang, K., Munzy, D., Gibbs, R.A., Marth, G., Levine, D.A., Wheeler, D.A.

المصدر: European Journal of Cancer ; volume 48, page S56 ; ISSN 0959-8049

الاتاحة: http://dx.doi.org/10.1016/s0959-8049(12)70926-7
https://api.elsevier.com/content/article/PII:S0959804912709267?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0959804912709267?httpAccept=text/plain

المؤلفون: Gravel, Simon, Henn, Brenna M., Gutenkunst, Ryan N., Indap, Amit R., Marth, Gabor T., Clark, Andrew G., Yu, Fuli, Gibbs, Richard A., Bustamante, Carlos D., Altshuler, D. L., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., Clark, A. G., Collins, F. S., De La Vega, F. M., Donnelly, P., Egholm, M., Flicek, P., Gabriel, S. B., Gibbs, R. A., Knoppers, B. M., Lander, E. S., Lehrach, H., Mardis, E. R., McVean, G. A., Nickerson, D. A., Peltonen, L., Schafer, A. J., Sherry, S. T., Wang, J., Wilson, R. K., Deiros, D., Metzker, M., Muzny, D., Reid, J., Wheeler, D., Li, J., Jian, M., Li, G., Li, R., Liang, H., Tian, G., Wang, B., Wang, W., Yang, H., Zhang, X., Zheng, H., Ambrogio, L., Bloom, T., Cibulskis, K., Fennell, T. J., Jaffe, D. B., Shefler, E., Sougnez, C. L., Gormley, N., Humphray, S., Kingsbury, Z., Koko-Gonzales, P., Stone, J., McKernan, K. J., Costa, G. L., Ichikawa, J. K., Lee, C. C., Sudbrak, R., Borodina, T. A., Dahl, A., Davydov, A. N., Marquardt, P., Mertes, F., Nietfeld, W., Rosenstiel, P., Schreiber, S., Soldatov, A. V., Timmermann, B., Tolzmann, M., Affourtit, J., Ashworth, D., Attiya, S., Bachorski, M., Buglione, E., Burke, A., Caprio, A., Celone, C., Clark, S., Conners, D., Desany, B., Gu, L., Guccione, L., Kao, K., Kebbel, A., Knowlton, J., Labrecque, M., McDade, L., Mealmaker, C., Minderman, M., Nawrocki, A., Niazi, F., Pareja, K., Ramenani, R., Riches, D., Song, W., Turcotte, C., Wang, S., Dooling, D., Fulton, L., Fulton, R., Weinstock, G., Burton, J., Carter, D. M., Churcher, C., Coffey, A., Cox, A., Palotie, A., Quail, M., Skelly, T., Stalker, J., Swerdlow, H. P., Turner, D., De Witte, A., Giles, S., Bainbridge, M., Challis, D., Sabo, A., Yu, F., Yu, J., Fang, X., Guo, X., Li, Y., Luo, R., Tai, S., Wu, H., Zheng, X., Zhou, Y., Marth, G. T., Garrison, E. P., Huang, W., Indap, A., Kural, D., Lee, W.-P., Leong, W. F., Quinlan, A. R., Stewart, C., Stromberg, M. P., Ward, A. N., Wu, J., Lee, C., Mills, R. E., Shi, X., Daly, M. J., DePristo, M. A., Ball, A. D., Banks, E., Browning, B. L., Garimella, K. V., Grossman, S. R., Handsaker, R. E., Hanna, M., Hartl, C., Kernytsky, A. M., Korn, J. M., Li, H., Maguire, J. R., McCarroll, S. A., McKenna, A., Nemesh, J. C., Philippakis, A. A., Poplin, R. E., Price, A., Rivas, M. A., Sabeti, P. C., Schaffner, S. F., Shlyakhter, I. A., Cooper, David Neil, Ball, E. V., Mort, M., Phillips, A. D., Stenson, P. D., Sebat, J., Makarov, V., Ye, K., Yoon, S. C., Bustamante, C. D., Boyko, A., Degenhardt, J., Gravel, S., Gutenkunst, R. N., Kaganovich, M., Keinan, A., Lacroute, P., Ma, X., Reynolds, A., Clarke, L., Cunningham, F., Herrero, J., Keenen, S., Kulesha, E., Leinonen, R., McLaren, W. M., Radhakrishnan, R., Smith, R. E., Zalunin, V., Zheng-Bradley, X., Korbel, J. O., Stutz, A. M., Bauer, M., Cheetham, R. K., Cox, T., Eberle, M., James, T., Kahn, S., Murray, L., Fu, Y., Hyland, F. C. L., Manning, J. M., McLaughlin, S. F., Peckham, H. E., Sakarya, O., Sun, Y. A., Tsung, E. F., Batzer, M. A., Konkel, M. K., Walker, J. A., Albrecht, M. W., Amstislavskiy, V. S., Herwig, R., Parkhomchuk, D. V., Agarwala, R., Khouri, H. M., Morgulis, A. O., Paschall, J. E., Phan, L. D., Rotmistrovsky, K. E., Sanders, R. D., Shumway, M. F., Xiao, C., Auton, A., Iqbal, Z., Lunter, G., Marchini, J. L., Moutsianas, L., Myers, S., Tumian, A., Knight, J., Winer, R., Craig, D. W., Beckstrom-Sternberg, S. M., Christoforides, A., Kurdoglu, A. A., Pearson, J. V., Sinari, S. A., Tembe, W. D., Haussler, D., Hinrichs, A. S., Katzman, S. J., Kern, A., Kuhn, R. M., Przeworski, M., Hernandez, R. D., Howie, B., Kelley, J. L., Melton, S. C., Anderson, P., Blackwell, T., Chen, W., Cookson, W. O., Ding, J., Kang, H. M., Lathrop, M., Liang, L., Moffatt, M. F., Scheet, P., Sidore, C., Snyder, M., Zhan, X., Zollner, S., Awadalla, P., Casals, F., Idaghdour, Y., Keebler, J., Stone, E. A., Zilversmit, M., Jorde, L., Xing, J., Eichler, E. E., Aksay, G., Alkan, C., Hajirasouliha, I., Hormozdiari, F., Kidd, J. M., Sahinalp, S. C., Sudmant, P. H., Chen, K., Chinwalla, A., Ding, L., Koboldt, D. C., McLellan, M. D., Wallis, J. W., Wendl, M. C., Zhang, Q., Albers, C. A., Ayub, Q., Balasubramaniam, S., Barrett, J. C., Chen, Y., Conrad, D. F., Danecek, P., Dermitzakis, E. T., Hu, M., Huang, N., Hurles, M. E., Jin, H., Jostins, L., Keane, T. M., Le, S. Q., Lindsay, S., Long, Q., MacArthur, D. G., Montgomery, S. B., Parts, L., Tyler-Smith, C., Walter, K., Zhang, Y., Gerstein, M. B., Abyzov, A., Balasubramanian, S., Bjornson, R., Du, J., Grubert, F., Habegger, L., Haraksingh, R., Jee, J., Khurana, E., Lam, H. Y. K., Leng, J., Mu, X. J., Urban, A. E., Zhang, Z., Coafra, C., Dinh, H., Kovar, C., Lee, S., Nazareth, L., Wilkinson, J., Scott, C., Gharani, N., Kaye, J. S., Kent, A., Li, T., McGuire, A. L., Ossorio, P. N., Rotimi, C. N., Su, Y., Toji, L. H., Brooks, L. D., Felsenfeld, A. L., McEwen, J. E., Abdallah, A., Juenger, C. R., Clemm, N. C., Duncanson, A., Green, E. D., Guyer, M. S., Peterson, J. L.

مصطلحات موضوعية: R Medicine (General), envir, stat

Relation: https://orca.cardiff.ac.uk/id/eprint/24889/

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/24889/

المؤلفون: Mills, R., Walter, K., Stewart, C., Handsaker, R., Chen, K., Alkan, C., Abyzov, A., Yoon, S., Ye, K., Cheetham, R., Chinwalla, A., Conrad, D., Fu, Y., Grubert, F., Hajirasouliha, I., Hormozdiari, F., Iakoucheva, L., Iqbal, Z., Kang, S., Kidd, J., Konkel, M., Korn, J., Khurana, E., Kural, D., Lam, H., Leng, J., Li, R., Li, Y., Lin, C., Luo, R., Mu, X., Nemesh, J., Peckham, H., Rausch, T., Scally, A., Shi, X., Stromberg, M., Stutz, A., Urban, A., Walker, J., Wu, J., Zhang, Y., Zhang, Z., Batzer, M., Ding, L., Marth, G., McVean, G., Sebat, J., Snyder, M., Wang, J., Eichler, E., Gerstein, M., Hurles, M., Lee, C., McCarroll, S., Korbel, J.

المصدر: Nature

مصطلحات موضوعية: archeo, geo

Relation: http://hdl.handle.net/11858/00-001M-0000-0010-78C2-9

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-0010-78C2-9

المؤلفون: Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüs ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GR, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F, 1000 Genomes Project Consortium, Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, McVean GA.

المصدر: Science (N. Y., N.Y.) 342 (2013). doi:10.1126/science.1235587.
info:cnr-pdr/source/autori:Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüs ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GR, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F; 1000 Genomes Project Consortium, Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, McVean GA./titolo:Integrative annotation of variants from 1092 humans: application to cancer genomics./doi:10.1126%2Fscience.1235587./rivista:Science (N. Y., N.Y.)/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume:342

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::f300f0f6e6187581aa2da4a204fdd6a1

المؤلفون: Church, D. M., Schneider, V. A., Steinberg, K. M., Schatz, M. C., Quinlan, A. R., Chin, C. S., Kitts, P. A., Aken, B., Marth, G. T., Hoffman, M. M., Herrero, J., Mendoza, M. L. Z., Durbin, R., Flicek, P.

مصطلحات موضوعية: bioinformatics, sequence alignment, sequence annotation, Sequence Data Processing, reference assembly

وصف الملف: application/pdf

Relation: http://repository.cshl.edu/id/eprint/31354/1/Schatz%20Genome%20Biology%202015.pdf; Church, D. M., Schneider, V. A., Steinberg, K. M., Schatz, M. C., Quinlan, A. R., Chin, C. S., Kitts, P. A., Aken, B., Marth, G. T., Hoffman, M. M., Herrero, J., Mendoza, M. L. Z., Durbin, R., Flicek, P. (January 2015) Extending reference assembly models. Genome Biology, 16. Article no. 13. ISSN 1465-6906

الاتاحة: http://repository.cshl.edu/id/eprint/31354/
http://repository.cshl.edu/id/eprint/31354/1/Schatz%20Genome%20Biology%202015.pdf
http://www.ncbi.nlm.nih.gov/pubmed/25651527
https://doi.org/10.1186/s13059-015-0587-3