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NGLY1 deficiency: a prospective natural history study Tong, Sandra; Ventola, Pamela; Frater, Christina H.; Klotz, Jenna; Phillips, Jennifer M.; Muppidi, Srikanth; Dwight, Selina S.; Mueller, William F.; Beahm, Brendan J.; Wilsey, Matt; Lee, Kevin J. 分享 收藏
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry Stanclift, Caroline. R. R.; Dwight, Selina. S. S.; Lee, Kevin; Eijkenboom, Quirine. L. L.; Wilsey, Matt; Wilsey, Kristen; Kobayashi, Erica Sanford; Tong, Sandra; Bainbridge, Matthew. N. N. 分享 收藏
ClinGen Allele Registry links information about genetic variants ClinGen等位基因注册表链接有关遗传变异的信息 Pawliczek, Piotr; Patel, Ronak Y.; Ashmore, Lillian R.; Jackson, Andrew R.; Bizon, Chris; Nelson, Tristan; Powell, Bradford; Freimuth, Robert R.; Strande, Natasha; Shah, Neethu; Paithankar, Sameer; Wright, Matt W.; Dwight, Selina; Zhen, Jimmy; Landrum, Melissa; McGarvey, Peter; Babb, Larry; Plon, Sharon E.; Milosavljevic, Aleksandar 分享 收藏
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene 先天性代谢错误 (IEM) 的序列变异解释的独特方面: ClinGen IEM工作组和苯丙氨酸羟化酶基因 Zastrow, Diane B.; Baudet, Heather; Shen, Wei; Thomas, Amanda; Si, Yue; Weaver, Meredith A.; Lager, Angela M.; Liu, Jixia; Mangels, Rachel; Dwight, Selina S.; Wright, Matt W.; Dobrowolski, Steven F.; Eilbeck, Karen; Enns, Gregory M.; Feigenbaum, Annette; Lichter-Konecki, Uta; Lyon, Elaine; Pasquali, Marzia; Watson, Michael; Blau, Nenad; Steiner, Robert D.; Craigen, William J.; Mao, Rong 分享 收藏
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource Strande, Natasha T.; Riggs, Erin Rooney; Buchanan, Adam H.; Ceyhan-Birsoy, Ozge; DiStefano, Marina; Dwight, Selina S.; Goldstein, Jenny; Ghosh, Rajarshi; Seifert, Bryce A.; Sneddon, Tam P.; Wright, Matt W.; Milko, Laura V.; Cherry, J. Michael; Giovanni, Monica A.; Murray, Michael F.; O'Daniel, Julianne M.; Ramos, Erin M.; Santani, Avni B.; Scott, Alan F.; Plon, Sharon E.; Rehm, Heidi L.; Martin, Christa L.; Berg, Jonathan S. 分享 收藏
Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup Overby, C. L.; Heale, B.; Aronson, S.; Cherry, J. M.; Dwight, S.; Milosavljevic, A.; Nelson, T.; Niehaus, A.; Weaver, M. A.; Ramos, E. M.; Williams, M. S. 分享 收藏
The complex portal - an encyclopaedia of macromolecular complexes Meldal, Birgit H. M.; Forner-Martinez, Oscar; Costanzo, Maria C.; Dana, Jose; Demeter, Janos; Dumousseau, Marine; Dwight, Selina S.; Gaulton, Anna; Licata, Luana; Melidoni, Anna N.; Ricard-Blum, Sylvie; Roechert, Bernd; Skyzypek, Marek S.; Tiwari, Manu; Velankar, Sameer; Wong, Edith D.; Hermjakob, Henning; Orchard, Sandra 分享 收藏
Saccharomyces Genome Database: the genomics resource of budding yeast Cherry, J. Michael; Hong, Eurie L.; Amundsen, Craig; Balakrishnan, Rama; Binkley, Gail; Chan, Esther T.; Christie, Karen R.; Costanzo, Maria C.; Dwight, Selina S.; Engel, Stacia R.; Fisk, Dianna G.; Hirschman, Jodi E.; Hitz, Benjamin C.; Karra, Kalpana; Krieger, Cynthia J.; Miyasato, Stuart R.; Nash, Rob S.; Park, Julie; Skrzypek, Marek S.; Simison, Matt; Weng, Shuai; Wong, Edith D. 分享 收藏
Saccharomyces Genome Database provides mutant phenotype data Engel, Stacia R.; Balakrishnan, Rama; Binkley, Gail; Christie, Karen R.; Costanzo, Maria C.; Dwight, Selina S.; Fisk, Dianna G.; Hirschman, Jodi E.; Hitz, Benjamin C.; Hong, Eurie L.; Krieger, Cynthia J.; Livstone, Michael S.; Miyasato, Stuart R.; Nash, Robert; Oughtred, Rose; Park, Julie; Skrzypek, Marek S.; Weng, Shuai; Wong, Edith D.; Dolinski, Kara; Botstein, David; Cherry, J. Michael 分享 收藏
Gene Ontology annotations at SGD: new data sources and annotation methods Hong, Eurie L.; Balakrishnan, Rama; Dong, Qing; Christie, Karen R.; Park, Julie; Binkley, Gail; Costanzo, Maria C.; Dwight, Selina S.; Engel, Stacia R.; Fisk, Dianna G.; Hirschman, Jodi E.; Hitz, Benjamin C.; Krieger, Cynthia J.; Livstone, Michael S.; Miyasato, Stuart R.; Nash, Robert S.; Oughtred, Rose; Skrzypek, Marek S.; Weng, Shuai; Wong, Edith D.; Zhu, Kathy K.; Dolinski, Kara; Botstein, David; Cherry, J. Michael 分享 收藏
Expanded protein information at SGD: new pages and proteome browser Nash, Robert; Weng, Shuai; Hitz, Ben; Balakrishnan, Rama; Christie, Karen R.; Costanzo, Maria C.; Dwight, Selina S.; Engel, Stacia R.; Fisk, Dianna G.; Hirschman, Jodi E.; Hong, Eurie L.; Livstone, Michael S.; Oughtred, Rose; Park, Julie; Skrzypek, Marek; Theesfeld, Chandra L.; Binkley, Gail; Dong, Qing; Lane, Christopher; Miyasato, Stuart; Sethuraman, Anand; Schroeder, Mark; Dolinski, Kara; Botstein, David; Cherry, J. Michael 分享 收藏
The Gene Ontology (GO) database and informatics resource 基因本体论 (GO) 数据库和信息学资源 Harris, MA; Clark, J; Ireland, A; Lomax, J; Ashburner, M; Foulger, R; Eilbeck, K; Lewis, S; Marshall, B; Mungall, C; Richter, J; Rubin, GM; Blake, JA; Bult, C; Dolan, M; Drabkin, H; Eppig, JT; Hill, DP; Ni, L; Ringwald, M; Balakrishnan, R; Cherry, JM; Christie, KR; Costanzo, MC; Dwight, SS; Engel, S; Fisk, DG; Hirschman, JE; Hong, EL; Nash, RS; Sethuraman, A; Theesfeld, CL; Botstein, D; Dolinski, K; Feierbach, B; Berardini, T; Mundodi, S; Rhee, SY; Apweiler, R; Barrell, D; Camon, E; Dimmer, E; Lee, V; Chisholm, R; Gaudet, P; Kibbe, W; Kishore, R; Schwarz, EM; Sternberg, P; Gwinn, M; Hannick, L; Wortman, J; Berriman, M; Wood, V; de la Cruz, N; Tonellato, P; Jaiswal, P; Seigfried, T; White, R 分享 收藏
Saccharomyces genome database:: Underlying principles and organisation Dwight, SS; Balakrishnan, R; Christie, KR; Costanzo, MC; Dolinski, K; Engel, SR; Feierbach, B; Fisk, DG; Hirschman, J; Hong, EL; Issel-Tarver, L; Nash, RS; Sethuraman, A; Starr, B; Theesfeld, CL; Andrada, R; Binkley, G; Dong, Q; Lane, C; Schroeder, M; Weng, S; Botstein, D; Cherry, JM 分享 收藏
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Saccharomyces Genome Database (SGD) provides secondary gene annotation using the Gene Ontology (GO) Dwight, SS; Harris, MA; Dolinski, K; Ball, CA; Binkley, G; Christie, KR; Fisk, DG; Issel-Tarver, L; Schroeder, M; Sherlock, G; Sethuraman, A; Weng, S; Botstein, D; Cherry, JM 分享 收藏
Gene Ontology: tool for the unification of biology 基因本体论: 统一生物学的工具 Ashburner, M; Ball, CA; Blake, JA; Botstein, D; Butler, H; Cherry, JM; Davis, AP; Dolinski, K; Dwight, SS; Eppig, JT; Harris, MA; Hill, DP; Issel-Tarver, L; Kasarskis, A; Lewis, S; Matese, JC; Richardson, JE; Ringwald, M; Rubin, GM; Sherlock, G 分享 收藏
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