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

المصدر: Genet Med ; ISSN:1530-0366 ; Volume:26 ; Issue:2

مصطلحات موضوعية: Allelic requirement, Disease mechanisms, Gene curation, Inheritance modes, Ontology

العلاقة: https://doi.org/10.1016/j.gim.2023.101029Test; https://pubmed.ncbi.nlm.nih.gov/37982373Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11039201Test/

الإتاحة: https://doi.org/10.1016/j.gim.2023.101029Test
https://pubmed.ncbi.nlm.nih.gov/37982373Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11039201Test/

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, Moses, Rachel Gore, 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, Čajbiková, Nikola Novák, Nurnberger, John I, 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

المصدر: Nucleic Acids Res ; ISSN:1362-4962 ; Volume:52 ; Issue:D1

العلاقة: https://doi.org/10.1093/nar/gkad1005Test; https://pubmed.ncbi.nlm.nih.gov/37953324Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10767975Test/

الإتاحة: https://doi.org/10.1093/nar/gkad1005Test
https://pubmed.ncbi.nlm.nih.gov/37953324Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10767975Test/

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, van Sant, David, Stark, Zornitza, Whiffin, Nicola, Rehm, Heidi L, Ware, James S

المصدر: medRxiv

العلاقة: https://doi.org/10.1101/2023.03.30.23287948Test; https://pubmed.ncbi.nlm.nih.gov/37066232Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104222Test/

الإتاحة: https://doi.org/10.1101/2023.03.30.23287948Test
https://pubmed.ncbi.nlm.nih.gov/37066232Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104222Test/

المؤلفون: Rehm, Heidi L, Page, Angela J H, Smith, Lindsay, Adams, Jeremy B, Alterovitz, Gil, Babb, Lawrence J, Barkley, Maxmillian P, Baudis, Michael, Beauvais, Michael J S, 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 O M, 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 W L, 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 J M, Kanitz, Alexander, Kato, Kazuto, Keane, Thomas M, Kekesi-Lafrance, Kristina, Kelleher, Jerome, Kerry, Giselle, Khor, Seik-Soon, Knoppers, Bartha M, Konopko, Melissa A, Kosaki, Kenjiro, Kuba, Martin, Lawson, Jonathan, Leinonen, Rasko, Li, Stephanie, Lin, Michael F, Linden, Mikael, Liu, Xianglin, Udara Liyanage, Isuru, Lopez, Javier, Lucassen, Anneke M, Lukowski, Michael, Mann, Alice L, Marshall, John, Mattioni, Michele, Metke-Jimenez, Alejandro, Middleton, Anna, Milne, Richard J, Molnár-Gábor, Fruzsina, Mulder, Nicola, Munoz-Torres, Monica C, Nag, Rishi, Nakagawa, Hidewaki, Nasir, Jamal, Navarro, Arcadi, Nelson, Tristan H, Niewielska, Ania, Nisselle, Amy, Niu, Jeffrey, Nyrönen, Tommi H, O'Connor, Brian D, Oesterle, Sabine, Ogishima, Soichi, Wang, Vivian Ota, Paglione, Laura A D, Palumbo, Emilio, Parkinson, Helen E, Philippakis, Anthony A, Pizarro, Angel D, Prlic, Andreas, Rambla, Jordi, Rendon, Augusto, Rider, Renee A, Robinson, Peter N, Rodarmer, Kurt W, Rodriguez, Laura Lyman, Rubin, Alan F, Rueda, Manuel, Rushton, Gregory A, Ryan, Rosalyn S, Saunders, Gary I, Schuilenburg, Helen, Schwede, Torsten, Scollen, Serena, Senf, Alexander, Sheffield, Nathan C, Skantharajah, Neerjah, Smith, Albert V, Sofia, Heidi J, Spalding, Dylan, Spurdle, Amanda B, Stark, Zornitza, Stein, Lincoln D, Suematsu, Makoto, Tan, Patrick, Tedds, Jonathan A, Thomson, Alastair A, Thorogood, Adrian, Tickle, Timothy L, Tokunaga, Katsushi, Törnroos, Juha, Torrents, David, Upchurch, Sean, Valencia, Alfonso, Guimera, Roman Valls, Vamathevan, Jessica, Varma, Susheel, Vears, Danya F, Viner, Coby, Voisin, Craig, Wagner, Alex H, Wallace, Susan E, Walsh, Brian P, Williams, Marc S, Winkler, Eva C, Wold, Barbara J, Wood, Grant M, Woolley, J Patrick, Yamasaki, Chisato, Yates, Andrew D, Yung, Christina K, Zass, Lyndon J, Zaytseva, Ksenia, Zhang, Junjun, Goodhand, Peter, North, Kathryn, Birney, Ewan

المصدر: Cell Genom ; ISSN:2666-979X ; Volume:1 ; Issue:2

العلاقة: https://doi.org/10.1016/j.xgen.2021.100029Test; https://pubmed.ncbi.nlm.nih.gov/35072136Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774288Test/

الإتاحة: https://doi.org/10.1016/j.xgen.2021.100029Test
https://pubmed.ncbi.nlm.nih.gov/35072136Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774288Test/