المؤلفون: Gargano, Michael A, Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B, Anagnostopoulos, Anna V, Anderton, Joel, Avillach, Paul, Bagley, Anita M, Bakštein, Eduard, Balhoff, James P, Baynam, Gareth, Bello, Susan M, Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F, Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J, Cameron, Rhiannon, Carbon, Seth J, Castellanos, Francisco, Caufield, J Harry, Chan, Lauren E, Chute, Christopher G, Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R, de Dieuleveult, Maud, de Souza, Vinicius, de Vries, Bert BA, de Vries, Esther, DePaulo, J Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander JM, Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V, Freudenberg-Hua, Yun, Fullerton, Janice M, Gabriel, Davera L, Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S, Moses, Rachel Gore, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun, Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius OB, Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A, Kraus, Megan L, Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S, Lagorce, David, Lai, Meng-Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L, Martinez-Glez, Victor, McHenry, Toby H, McInnis, Melvin G, McMurry, Julie A, Mihulová, Michaela, Millett, Caitlin E, Mitchell, Philip B, Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian

المصدر: Nucleic Acids Research. 52(D1)

مصطلحات موضوعية: Biological Sciences, Genetics, Networking and Information Technology R&D (NITRD), Human Genome, Machine Learning and Artificial Intelligence, Good Health and Well Being, Humans, Biological Ontologies, Phenotype, Genomics, Algorithms, Rare Diseases, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7956s6h6Test
https://escholarship.org/content/qt7956s6h6/qt7956s6h6.pdfTest

المؤلفون: Claussnitzer, Melina, Parikh, Victoria N., Wagner, Alex H., Arbesfeld, Jeremy A., Bult, Carol J., Firth, Helen V., Muffley, Lara A., Ba, Alex N. Nguyen, Riehle, Kevin, Roth, Frederick P., Tabet, Daniel, Bolognesi, Benedetta, Glazer, Andrew M., Rubin, Alan F.

مصطلحات موضوعية: Quantitative Biology - Other Quantitative Biology

الوصول الحر: http://arxiv.org/abs/2306.15113Test

المؤلفون: Yu, Zhong-Qiu, Carmichael, Jenny, Collins, Galen A, D'Agostino, Maria Daniela, Lessard, Mathieu, Firth, Helen V, Harijan, Pooja, Fry, Andrew E, Dean, John, Zhang, Jiuchun, Kini, Usha, Goldberg, Alfred L, Rubinsztein, David C

مصطلحات موضوعية: PSMC5, developmental delay, neurodevelopmental disorder, proteasome, protein degradation

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/368133Test; https://doi.org/10.17863/CAM.108449Test

الإتاحة: https://doi.org/10.17863/CAM.108449Test
https://www.repository.cam.ac.uk/handle/1810/368133Test

المؤلفون: Gargano, Michael A., Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B., Anagnostopoulos, Anna V., Anderton, Joel, Avillach, Paul, Bagley, Anita M., Bakštein, Eduard, Balhoff, James P., Baynam, Gareth, Bello, Susan M., Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F., Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J., Cameron, Rhiannon, Carbon, Seth J., Castellanos, Francisco, Caufield, J. Harry, Chan, Lauren E., Chute, Christopher G., Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R., de Dieuleveult, Maud, de Souza, Vinicius, de Vries, Bert B. A., de Vries, Esther, DePaulo, J. Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J. M., Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V., Freudenberg-Hua, Yun, Fullerton, Janice M., Gabriel, Davera L., Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S., Gore Moses, Rachel, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun Oliver, Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius O. B., Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A., Kraus, Megan L., Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S., Lagorce, David, Lai, Meng-Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L., Martinez-Glez, Victor, McHenry, Toby H., McInnis, Melvin G., McMurry, Julie A., Mihulová, Michaela, Millett, Caitlin E., Mitchell, Philip B., Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian, Nierenberg, Andrew A., Novák Čajbiková, Nikola, Nurnberger, John I., Jr., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Perez de Nanclares, Guiomar, Peters, Amy, Putman, Tim, Rapp, Christina K., Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M., Roy, Suzy, Sanders, Stephan J., Schuetz, Catharina, Schulte, Eva C., Schulze, Thomas G., Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N., Simon, Eric S., Singh, Balwinder, Smedley, Damian, Smith, Cynthia L., Smolinsky, Jake T., Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Tenorio Castano, Jair A., Tesner, Pavel, Thomas, Rhys H., Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E., Vasilevsky, Nicole A., Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S., Wiafe, Addo A., Wiafe, Samuel A., Wiggins, Lisa D., Williams, Andrew E., Wu, Chen, Wyrwoll, Margot J., Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N., Yocum, Anastasia K., Young, Allan H., Yüksel, Zafer, Zandi, Peter P., Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C., Harris, Nomi L., Munoz-Torres, Monica C., Danis, Daniel, Mungall, Christopher J., Köhler, Sebastian, Haendel, Melissa A., Robinson, Peter N.

المساهمون: Psychiatry, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Algorithms, Biological ontologies, Genomics, Phenotype, Rare diseases

وصف الملف: application/pdf

العلاقة: Nucleic Acids Research; Gargano MA, Matentzoglu N, Coleman B, et al. The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Res. 2024;52(D1):D1333-D1346. doi:10.1093/nar/gkad1005; https://hdl.handle.net/1805/40981Test

الإتاحة: https://doi.org/10.1093/nar/gkad1005Test
https://hdl.handle.net/1805/40981Test

المؤلفون: Gargano, Michael A., Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B., Anagnostopoulos, Anna V., Anderton, Joel, Avillach, Paul, Bagley, Anita M., Bakštein, Eduard, Balhoff, James P., Baynam, Gareth, Bello, Susan M., Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F., Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J., Cameron, Rhiannon, Carbon, Seth J., Castellanos, Francisco, Caufield, J. Harry, Chan, Lauren E., Chute, Christopher G., Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R., Dieuleveult, Maudde, Souza, Viniciusde, de Vries, Bert B.A., Vries, Estherde, DePaulo, J. Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J.M., Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V., Freudenberg-Hua, Yun, Fullerton, Janice M., Gabriel, Davera L., Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S., Moses, Rachel Gore, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun, Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius O.B., Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A., Kraus, Megan L., Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S., Lagorce, David, Lai, Meng Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L., Martinez-Glez, Victor, McHenry, Toby H., McInnis, Melvin G., McMurry, Julie A., Mihulová, Michaela, Millett, Caitlin E., Mitchell, Philip B., Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian, Nierenberg, Andrew A., Čajbiková, Nikola Novák, Nurnberger, John I., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Nanclares, Guiomar Perezde, Peters, Amy, Putman, Tim, Rapp, Christina K., Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M., Roy, Suzy, Sanders, Stephan J., Schuetz, Catharina, Schulte, Eva C., Schulze, Thomas G., Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N., Simon, Eric S., Singh, Balwinder, Smedley, Damian, Smith, Cynthia L., Smolinsky, Jake T., Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Castano, Jair A.Tenorio, Tesner, Pavel, Thomas, Rhys H., Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E., Vasilevsky, Nicole A., Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S., Wiafe, Addo A., Wiafe, Samuel A., Wiggins, Lisa D., Williams, Andrew E., Wu, Chen, Wyrwoll, Margot J., Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N., Yocum, Anastasia K., Young, Allan H., Yüksel, Zafer, Zandi, Peter P., Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C., Harris, Nomi L., Munoz-Torres, Monica C., Danis, Daniel, Mungall, Christopher J., Köhler, Sebastian, Haendel, Melissa A., Robinson, Peter N.

المصدر: Gargano , M A , Matentzoglu , N , Coleman , B , Addo-Lartey , E B , Anagnostopoulos , A V , Anderton , J , Avillach , P , Bagley , A M , Bakštein , E , Balhoff , J P , Baynam , G , Bello , S M , Berk , M , Bertram , H , Bishop , S , Blau , H , Bodenstein , D F , Botas , P , Boztug , K , Čady , J , Callahan , T J , Cameron , R , Carbon , S ....

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/53bfc48d-664b-48c8-aa1a-6eff4a812480Test

الإتاحة: https://doi.org/10.1093/nar/gkad1005Test
https://hdl.handle.net/11370/53bfc48d-664b-48c8-aa1a-6eff4a812480Test
https://research.rug.nl/en/publications/53bfc48d-664b-48c8-aa1a-6eff4a812480Test
https://pure.rug.nl/ws/files/925936582/The_Human_Phenotype_Ontology_in_2024-_phenotypes_around_the_world.pdfTest
http://www.scopus.com/inward/record.url?scp=85181760537&partnerID=8YFLogxKTest

المؤلفون: Harris, Erica L., Roy, Vincent, Montagne, Martin, Rose, Ailsa M.S., Livesey, Helen, Reijnders, Margot R.F., Hobson, Emma, Sansbury, Francis H., Willemsen, Marjolein H., Pfundt, Rolph, Warren, Daniel, Long, Vernon, Carr, Ian M., Brunner, Han G., Sheridan, Eamonn G., Firth, Helen V., Lavigne, Pierre, Poulter, James A.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/167534/1/SANSBURY,%20Francis%20-%20A%20recurrent%20de%20novo%20MAX%20p.Arg60Gln%20variant%20causes%20a%20syndromic%20overgrowth%20disorder%20through%20differential%20expression%20of%20c-Myc%20target%20genes.pdfTest; Harris, Erica L., Roy, Vincent, Montagne, Martin, Rose, Ailsa M.S., Livesey, Helen, Reijnders, Margot R.F., Hobson, Emma, Sansbury, Francis H. https://orca.cardiff.ac.uk/view/cardiffauthors/A2408671B.htmlTest, Willemsen, Marjolein H., Pfundt, Rolph, Warren, Daniel, Long, Vernon, Carr, Ian M., Brunner, Han G., Sheridan, Eamonn G., Firth, Helen V., Lavigne, Pierre and Poulter, James A. 2024. A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes. American Journal of Human Genetics 111 (1) , pp. 119-132. 10.1016/j.ajhg.2023.11.010 https://doi.org/10.1016/j.ajhg.2023.11.010Test file https://orca.cardiff.ac.uk/id/eprint/167534/1/SANSBURY,%20Francis%20-%20A%20recurrent%20de%20novo%20MAX%20p.Arg60Gln%20variant%20causes%20a%20syndromic%20overgrowth%20disorder%20through%20differential%20expression%20of%20c-Myc%20target%20genes.pdfTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.11.010Test
https://orca.cardiff.ac.uk/id/eprint/167534Test/
https://orca.cardiff.ac.uk/id/eprint/167534/1/SANSBURY,%20Francis%20-%20A%20recurrent%20de%20novo%20MAX%20p.Arg60Gln%20variant%20causes%20a%20syndromic%20overgrowth%20disorder%20through%20differential%20expression%20of%20c-Myc%20target%20genes.pdfTest

المؤلفون: Roberts, Angharad M., DiStefano, Marina T., Riggs, Erin Rooney, Josephs, Katherine S., Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Berg, Jonathan S., Cunningham, Fiona, Eilbeck, Karen, Firth, Helen V., Foreman, Julia, Hamosh, Ada, Hay, Eleanor, Leigh, Sarah, Martin, Christa L., McDonagh, Ellen M., Perrett, Daniel, Ramos, Erin M., Robinson, Peter N., Rath, Ana, Sant, David W., Stark, Zornitza, Whiffin, Nicola, Rehm, Heidi L., Ware, James S.

المساهمون: Sir Jules Thorn Charitable Trust, Rosetrees Trust, NHMRC, NIH, Wellcome Trust, British Heart Foundation, National Human Genome Research Institute

المصدر: Genetics in Medicine ; volume 26, issue 2, page 101029 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.101029Test
https://api.elsevier.com/content/article/PII:S1098360023010456?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023010456?httpAccept=text/plainTest

المؤلفون: Danecek, Petr, Gardner, Eugene J., Fitzgerald, Tomas W., Gallone, Giuseppe, Kaplanis, Joanna, Eberhardt, Ruth Y., Wright, Caroline F., Firth, Helen V., Hurles, Matthew E.

المساهمون: Wellcome Trust

المصدر: Genetics in Medicine Open ; volume 2, page 101818 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101818Test
https://api.elsevier.com/content/article/PII:S2949774424009646?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424009646?httpAccept=text/plainTest

المؤلفون: Rehm, Heidi L, Page, Angela JH, Smith, Lindsay, Adams, Jeremy B, Alterovitz, Gil, Babb, Lawrence J, Barkley, Maxmillian P, Baudis, Michael, Beauvais, Michael JS, Beck, Tim, Beckmann, Jacques S, Beltran, Sergi, Bernick, David, Bernier, Alexander, Bonfield, James K, Boughtwood, Tiffany F, Bourque, Guillaume, Bowers, Sarion R, Brookes, Anthony J, Brudno, Michael, Brush, Matthew H, Bujold, David, Burdett, Tony, Buske, Orion J, Cabili, Moran N, Cameron, Daniel L, Carroll, Robert J, Casas-Silva, Esmeralda, Chakravarty, Debyani, Chaudhari, Bimal P, Chen, Shu Hui, Cherry, J Michael, Chung, Justina, Cline, Melissa, Clissold, Hayley L, Cook-Deegan, Robert M, Courtot, Mélanie, Cunningham, Fiona, Cupak, Miro, Davies, Robert M, Denisko, Danielle, Doerr, Megan J, Dolman, Lena I, Dove, Edward S, Dursi, L Jonathan, Dyke, Stephanie OM, Eddy, James A, Eilbeck, Karen, Ellrott, Kyle P, Fairley, Susan, Fakhro, Khalid A, Firth, Helen V, Fitzsimons, Michael S, Fiume, Marc, Flicek, Paul, Fore, Ian M, Freeberg, Mallory A, Freimuth, Robert R, Fromont, Lauren A, Fuerth, Jonathan, Gaff, Clara L, Gan, Weiniu, Ghanaim, Elena M, Glazer, David, Green, Robert C, Griffith, Malachi, Griffith, Obi L, Grossman, Robert L, Groza, Tudor, Auvil, Jaime M Guidry, Guigó, Roderic, Gupta, Dipayan, Haendel, Melissa A, Hamosh, Ada, Hansen, David P, Hart, Reece K, Hartley, Dean Mitchell, Haussler, David, Hendricks-Sturrup, Rachele M, Ho, Calvin WL, Hobb, Ashley E, Hoffman, Michael M, Hofmann, Oliver M, Holub, Petr, Hsu, Jacob Shujui, Hubaux, Jean-Pierre, Hunt, Sarah E, Husami, Ammar, Jacobsen, Julius O, Jamuar, Saumya S, Janes, Elizabeth L, Jeanson, Francis, Jené, Aina, Johns, Amber L, Joly, Yann, Jones, Steven JM, Kanitz, Alexander, Kato, Kazuto, Keane, Thomas M, Kekesi-Lafrance, Kristina

المصدر: Cell Genomics. 1(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Clinical Research, Health Services, Generic health relevance, Good Health and Well Being

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6hn3v1t6Test

المؤلفون: Dyke, Stephanie OM, Linden, Mikael, Lappalainen, Ilkka, De Argila, Jordi Rambla, Carey, Knox, Lloyd, David, Spalding, J Dylan, Cabili, Moran N, Kerry, Giselle, Foreman, Julia, Cutts, Tim, Shabani, Mahsa, Rodriguez, Laura L, Haeussler, Maximilian, Walsh, Brian, Jiang, Xiaoqian, Wang, Shuang, Perrett, Daniel, Boughtwood, Tiffany, Matern, Andreas, Brookes, Anthony J, Cupak, Miro, Fiume, Marc, Pandya, Ravi, Tulchinsky, Ilia, Scollen, Serena, Törnroos, Juha, Das, Samir, Evans, Alan C, Malin, Bradley A, Beck, Stephan, Brenner, Steven E, Nyrönen, Tommi, Blomberg, Niklas, Firth, Helen V, Hurles, Matthew, Philippakis, Anthony A, Rätsch, Gunnar, Brudno, Michael, Boycott, Kym M, Rehm, Heidi L, Baudis, Michael, Sherry, Stephen T, Kato, Kazuto, Knoppers, Bartha M, Baker, Dixie, Flicek, Paul

المصدر: European Journal of Human Genetics. 26(12)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, 8.3 Policy, ethics, and research governance, Health and social care services research, Generic health relevance, Good Health and Well Being, Access to Information, Genetics, Medical, Genomics, Humans, Information Dissemination, Licensure, Practice Guidelines as Topic, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6zb5v4qtTest