未登录 The WHO Classification of Genetic Tumour Syndromes: Considerations for histopathology 世界卫生组织遗传性肿瘤综合征分类：组织病理学考量 Cree, Ian A.; Arends, Mark J.; Khoury, Joseph D.; Denton, Erika Re; Gill, Anthony J.; Lazar, Alexander J.; Frayling, Ian M.; Pfister, Stefan M.; Rubin, Mark A.; Leite, Katia Rm; Dalgleish, Raymond; Bruford, Elspeth A.; Plon, Sharon; Hamosh, Ada; Walsh, Michael Francis; Goldman-levy, Gabrielle; Wijesinghe, Harshima; Foulkes, William D.; Lokuhetty, Dilani 分享 收藏
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Expression of concern for global biomedical research by the human genome organization (HUGO) 人类基因组组织（HUGO）对全球生物医学研究的关注声明 Hamosh, Ada; Arzuaga, Fabiana; Avraham, Karen B.; Bin Alwi, Zilfalil; Bowcock, Anne; Burn, Sir John; Carninci, Piero; Dandara, Collet; Lopes-Cendes, Iscia; Mutesa, Leon; Majumder, Partha P.; Reichardt, Juergen K., V; Veltman, Joris A. 分享 收藏
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases 罕见病的操作描述: 提高罕见病的识别和知名度的参考 Wang, Chiuhui Mary; Whiting, Amy Heagle; Rath, Ana; Anido, Roberta; Ardigo, Diego; Baynam, Gareth; Dawkins, Hugh; Hamosh, Ada; Le Cam, Yann; Malherbe, Helen; Molster, Caron M.; Monaco, Lucia; Padilla, Carmencita D.; Pariser, Anne R.; Robinson, Peter N.; Rodwell, Charlotte; Schaefer, Franz; Weber, Stefanie; Macchia, Flaminia 分享 收藏
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Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation Manoli, Irini; Sysol, Justin R.; Head, PamelaSara E.; Epping, Madeline W.; Gavrilova, Oksana; Crocker, Melissa K.; Sloan, Jennifer L.; Koutsoukos, Stefanos A.; Wang, Cindy; Ktena, Yiouli P.; Mendelson, Sophia; Pass, Alexandra R.; Zerfas, Patricia M.; Hoffmann, Victoria; Vernon, Hilary J.; Fletcher, Laura A.; Reynolds, James C.; Tsokos, Maria G.; Stratakis, Constantine A.; Voss, Stephan D.; Chen, Kong Y.; Brown, Rebecca J.; Hamosh, Ada; Berry, Gerard T.; Chen, Xiaoyuan Shawn; Yanovski, Jack A.; Venditti, Charles P. 分享 收藏
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms 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. 分享 收藏
The Human Phenotype Ontology in 2024: phenotypes around the world 人类表型本体论2024年: 世界各地的表型 Gargano, Michael A.; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B.; Anagnostopoulos, Anna, V; Anderton, Joel; Avillach, Paul; Bagley, Anita M.; Bakstein, Eduard; Balhoff, James P.; Baynam, Gareth; Bello, Susan M.; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F.; Botas, Pablo; Boztug, Kaan; Cady, 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, Noemi; 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; Hanusova, Katerina; He, Yongqun (Oliver); Hegde, Harshad; Helbig, Ingo; Holasova, Katerina; 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.; Mihulova, Michaela; Millett, Caitlin E.; Mitchell, Philip B.; Moslerova, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A.; Cajbikova, Nikola Novak; 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.; Vlckova, Marketa; 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.; Yueksel, Zafer; Zandi, Peter P.; Zankl, Andreas; Zarante, Ignacio; Zvolsky, Miroslav; Toro, Sabrina; Carmody, Leigh C.; Harris, Nomi L.; Munoz-Torres, Monica C.; Danis, Daniel; Mungall, Christopher J.; Koehler, Sebastian; Haendel, Melissa A.; Robinson, Peter N. 分享 收藏
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources 基因策展联盟: 协调基因疾病证据资源的全球努力 DiStefano, Marina T.; Goehringer, Scott; Babb, Lawrence; Alkuraya, Fowzan S.; Amberger, Joanna; Amin, Mutaz; Austin-Tse, Christina; Balzotti, Marie; Berg, Jonathan S.; Birney, Ewan; Bocchini, Carol; Bruford, Elspeth A.; Coffey, Alison J.; Collins, Heather; Cunningham, Fiona; Daugherty, Louise C.; Einhorn, Yaron; Firth, Helen, V; Fitzpatrick, David R.; Foulger, Rebecca E.; Goldstein, Jennifer; Hamosh, Ada; Hurles, Matthew R.; Leigh, Sarah E.; Leong, Ivone U. S.; Maddirevula, Sateesh; Martin, Christa L.; McDonagh, Ellen M.; Olry, Annie; Puzriakova, Arina; Radtke, Kelly; Ramos, Erin M.; Rath, Ana; Riggs, Erin Rooney; Roberts, Angharad M.; Rodwell, Charlotte; Snow, Catherine; Stark, Zornitza; Tahiliani, Jackie; Tweedie, Susan; Ware, James S.; Weller, Phillip; Williams, Eleanor; Wright, Caroline F.; Yates, Thabo Michael; Rehm, Heidi L. 分享 收藏
The GA4GH Phenopacket schema defines a computable representation of clinical data Jacobsen, Julius O. B.; Baudis, Michael; Baynam, Gareth S.; Beckmann, Jacques S.; Beltran, Sergi; Buske, Orion J.; Callahan, Tiffany J.; Chute, Christopher G.; Courtot, Melanie; Danis, Daniel; Elemento, Olivier; Essenwanger, Andrea; Freimuth, Robert R.; Gargano, Michael A.; Groza, Tudor; Hamosh, Ada; Harris, Nomi L.; Kaliyaperumal, Rajaram; Lloyd, Kevin C. Kent; Khalifa, Aly; Krawitz, Peter M.; Koeler, Sebastian; Laraway, Brian J.; Lehvaslaiho, Heikki; Matalonga, Leslie; McMurry, Julie A.; Metke-Jimenez, Alejandro; Mungall, Christopher J.; Munoz-Torres, Monica C.; Ogishima, Soichi; Papakonstantinou, Anastasios; Piscia, Davide; Pontikos, Nikolas; Queralt-Rosinach, Nuria; Roos, Marco; Sass, Julian; Schofield, Paul N.; Seelow, Dominik; Siapos, Anastasios; Smedley, Damian; Smith, Lindsay D.; Steinhaus, Robin; Sundaramurthi, Jagadish Chandrabose; Swietlik, Emilia M.; Thun, Sylvia; Vasilevsky, Nicole A.; Wagner, Alex H.; Warner, Jeremy L.; Weiland, Claus; Haendel, Melissa A.; Robinson, Peter N. 分享 收藏
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Centers for Mendelian Genomics: A decade of facilitating gene discovery Baxter, Samantha M.; Posey, Jennifer E.; Lake, Nicole J.; Sobreira, Nara; Chong, Jessica X.; Buyske, Steven; Blue, Elizabeth E.; Chadwick, Lisa H.; Coban-Akdemir, Zeynep H.; Doheny, Kimberly F.; Davis, Colleen P.; Lek, Monkol; Wellington, Christopher; Jhangiani, Shalini N.; Gerstein, Mark; Gibbs, Richard A.; Lifton, Richard P.; MacArthur, Daniel G.; Matise, Tara C.; Lupski, James R.; Valle, David; Bamshad, Michael J.; Hamosh, Ada; Mane, Shrikant; Nickerson, Deborah A.; Rehm, Heidi L.; O'Donnell-Luria, Anne 分享 收藏
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Variant-level matching for diagnosis and discovery: Challenges and opportunities 用于诊断和发现的变体级别匹配: 挑战和机遇 Rodrigues, Eliete da S.; Griffith, Sean; Martin, Renan; Antonescu, Corina; Posey, Jennifer E.; Coban-Akdemir, Zeynep; Jhangiani, Shalini N.; Doheny, Kimberly F.; Lupski, James R.; Valle, David; Bamshad, Michael J.; Hamosh, Ada; Sheffer, Assaf; Chong, Jessica X.; Einhorn, Yaron; Cupak, Miro; Sobreira, Nara 分享 收藏
GA4GH: International policies and standards for data sharing across genomic research and healthcare GA4GH: 跨基因组研究和医疗保健的数据共享的国际政策和标准 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, Melanie; 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; Guigo, 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; Jene, 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; Liyanage, Isuru Udara; Lopez, Javier; Lucassen, Anneke M.; Lukowski, Michael; Mann, Alice L.; Marshall, John; Mattioni, Michele; Metke-Jimenez, Alejandro; Middleton, Anna; Milne, Richard J.; Molnar-Gabor, Fruzsina; Mulder, Nicola; Munoz-Torres, Monica C.; Nag, Rishi; Nakagawa, Hidewaki; Nasir, Jamal; Navarro, Arcadi; Nelson, Tristan H.; Niewielska, Ania; Nisselle, Amy; Niu, Jeffrey; Nyronen, 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; Tomroos, 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 分享 收藏
Response to Hamosh et al. Hamosh, Ada; Amberger, Joanna S.; Bocchini, Carol A.; Bodurtha, Joann; Bult, Carol J.; Chute, Christopher G.; Cutting, Garry R.; Dietz, Harry C.; Firth, Helen V.; Gibbs, Richard A.; Grody, Wayne W.; Haendel, Melissa A.; Lupski, James R.; Posey, Jennifer E.; Robinson, Peter N.; Schriml, Lynn M.; Scott, Alan F.; Sobreira, Nara L.; Valle, David; Wu, Nan; Rasmussen, Sonja A. 分享 收藏
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data Wohler, Elizabeth; Martin, Renan; Griffith, Sean; Rodrigues, Eliete da S.; Antonescu, Corina; Posey, Jennifer E.; Coban-Akdemir, Zeynep; Jhangiani, Shalini N.; Doheny, Kimberly F.; Lupski, James R.; Valle, David; Hamosh, Ada; Sobreira, Nara 分享 收藏
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior RFX家族转录因子的破坏会导致自闭症，注意力缺陷/多动障碍，智力障碍和行为失调 Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; van Binsbergen, Ellen; Pfundt, Rolph; Gardeitchik, Thatjana; de Vries, Bert B. A.; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L., Jr.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Kury, Sebastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, Andre; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W. 分享 收藏
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