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by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Diseases Network and Medicinska fakulteten and Klinisk epidemiologi and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för medicinska vetenskaper
Nature Medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Journal Article
by Zastrow, Diane B and Kohler, Jennefer N and Bonner, Devon and Reuter, Chloe M and Fernandez, Liliana and Grove, Megan E and Fisk, Dianna G and Yang, Yaping and Eng, Christine M and Ward, Patricia A and Bick, David and Worthey, Elizabeth A and Fisher, Paul G and Ashley, Euan A and Bernstein, Jonathan A and Wheeler, Matthew T and Merker, Jason and Schelley, Susan and Enns, Gregory and Montgomery, Stephen and Zappala, Zach and Fresard, Laure and Prybol, Cameron and Taylor, Robert and McFarland, Robert and Holmes, Matthew and Thompson, Kyle and Olahova, Monika and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D'Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell‐Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fairbrother, Laura and Ferreira, Carlos and Fieg, Elizabeth L and Fogel, Brent L and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean‐Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and High, Francis and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Journal of Genetic Counseling, ISSN 1059-7700, 04/2019, Volume 28, Issue 2, pp. 213 - 228
There are approximately 7,000 rare diseases affecting 25–30 million Americans, with 80% estimated to have a genetic basis. This presents a challenge for... 
rare diseases | undiagnosed diseases | genome sequencing | exome sequencing | sequencing reanalysis | DIAGNOSIS | VARIANTS | SOCIAL SCIENCES, BIOMEDICAL | STANDARDS | DISCOVERY | CLINICAL WHOLE-EXOME | MUTATION | GENETICS & HEREDITY | HEALTH POLICY & SERVICES | Rare diseases | Phenotypes | Segregation | Data processing | Genetics | Genomes | Genetic factors | Diagnosis | Undiagnosed | Genetic counselling
Journal Article
by Grove, Megan E and White, Shana and Fisk, Dianna G and Rego, Shannon and Dagan‐Rosenfeld, Orit and Kohler, Jennefer N and Reuter, Chloe M and Bonner, Devon and Wheeler, Matthew T and Bernstein, Jonathan A and Ormond, Kelly E and Hanson‐Kahn, Andrea K and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D'Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell‐Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fairbrother, Laura and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean‐Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and High, Francis and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jamal, Fariha and Jiang, Yong‐hui and Johnston, Jean M and Jones, Angela L and Karaviti, Lefkothea and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Korrick, Susan and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Journal of Genetic Counseling, ISSN 1059-7700, 04/2019, Volume 28, Issue 2, pp. 466 - 476
Journal Article
Blood, ISSN 0006-4971, 11/2012, Volume 120, Issue 21, pp. 2863 - 2863
Abstract Abstract 2863 Background: JAK2 V617F is a recurrent, activating mutation in patients (pts) with BCR-ABL1-negative MPNs. Mutations in codon 515 of MPL... 
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 1/2012, Volume 40, Issue D1, pp. D700 - D705
The Saccharomyces Genome Database (SGD, http://www.yeastgenome.org) is the community resource for the budding yeast Saccharomyces cerevisiae. The SGD project... 
GENE-TRANSFER | MODEL | BIOCHEMISTRY & MOLECULAR BIOLOGY | CEREVISIAE | FAMILY | Phenotype | Genome, Fungal | Saccharomyces cerevisiae - genetics | Genomics | Molecular Sequence Annotation | Databases, Genetic | Terminology as Topic | Genes, Fungal | High-Throughput Nucleotide Sequencing | Software
Journal Article
G3: Genes|Genomes|Genetics, ISSN 2160-1836, 03/2014, Volume 4, Issue 3, pp. 389 - 398
Journal Article
by Berardini, TZ and Li, DH and Huala, E and Bridges, S and Burgess, S and McCarthy, F and Carbon, S and Lewis, SE and Mungall, CJ and Abdulla, A and Wood, V and Feltrin, E and Valle, G and Chisholm, RL and Fey, P and Gaudet, P and Kibbe, W and Basu, S and Bushmanova, Y and Eilbeck, K and Siegele, DA and McIntosh, B and Renfro, D and Zweifel, A and Hu, JC and Ashburner, M and Tweedie, S and Alam-Faruque, Y and Apweiler, R and Auchinchloss, A and Bairoch, A and Barrell, D and Binns, D and Blatter, MC and Bougueleret, L and Boutet, E and Breuza, L and Bridge, A and Browne, P and Chan, WM and Coudert, E and Daugherty, L and Dimmer, E and Eberhardt, R and Estreicher, A and Famiglietti, L and Ferro-Rojas, S and Feuermann, M and Foulger, R and Gruaz-Gumowski, N and Hinz, U and Huntley, R and Jimenez, S and Jungo, F and Keller, G and Laiho, K and Legge, D and Lemercier, P and Lieberherr, D and Magrane, M and O'Donovan, C and Pedruzzi, I and Poux, S and Rivoire, C and Roechert, B and Sawford, T and Schneider, M and Stanley, E and Stutz, A and Sundaram, S and Tognolli, M and Xenarios, I and Harris, MA and Deegan, JI and Ireland, A and Lomax, J and Jaiswal, P and Chibucos, M and Giglio, MG and Wortman, J and Hannick, L and Madupu, R and Botstein, D and Dolinski, K and Livstone, MS and Oughtred, R and Blake, JA and Bult, C and Diehl, AD and Dolan, M and Drabkin, H and Eppig, JT and Hill, DP and Ni, L and Ringwald, M and Sitnikov, D and Collmer, C and Torto-Alalibo, T and Laulederkind, S and Shimoyama, M and ... and Gene Ontology Consortium
NUCLEIC ACIDS RESEARCH, ISSN 0305-1048, 01/2010, Volume 38, pp. D331 - D335
The Gene Ontology (GO) Consortium (http://www.geneontology.org) (GOC) continues to develop, maintain and use a set of structured, controlled vocabularies for... 
BIOCHEMISTRY & MOLECULAR BIOLOGY
Journal Article
by Harris, Midori A and Deegan, Jennifer I and Ireland, Amelia and Lomax, Jane and Ashburner, Michael and Tweedie, Susan and Carbon, Seth and Lewis, Suzanna and Mungall, Chris and Day-Richter, John and Eilbeck, Karen and Blake, Judith A and Bult, Carol and Diehl, Alexander D and Dolan, Mary and Drabkin, Harold and Eppig, Janan T and Hill, David P and Ni, Li and Ringwald, Martin and Balakrishnan, Rama and Binkley, Gail and Cherry, J. Michael and Christie, Karen R and Costanzo, Maria C and Dong, Qing and Engel, Stacia R and Fisk, Dianna G and Hirschman, Jodi E and Hitz, Benjamin C and Hong, Eurie L and Krieger, Cynthia J and Miyasato, Stuart R and Nash, Robert S and Park, Julie and Skrzypek, Marek S and Weng, Shuai and Wong, Edith D and Zhu, Kathy K and Botstein, David and Dolinski, Kara and Livstone, Michael S and Oughtred, Rose and Berardini, Tanya and Li, Donghui and Rhee, Seung Y and Apweiler, Rolf and Barrell, Daniel and Camon, Evelyn and Dimmer, Emily and Huntley, Rachael and Mulder, Nicola and Khodiyar, Varsha K and Lovering, Ruth C and Povey, Sue and Chisholm, Rex and Fey, Petra and Gaudet, Pascale and Kibbe, Warren and Kishore, Ranjana and Schwarz, Erich M and Sternberg, Paul and Van Auken, Kimberly and Giglio, Michelle Gwinn and Hannick, Linda and Wortman, Jennifer and Aslett, Martin and Berriman, Matthew and Wood, Valerie and Jacob, Howard and Laulederkind, Stan and Petri, Victoria and Shimoyama, Mary and Smith, Jennifer and Twigger, Simon and Jaiswal, Pankaj and Seigfried, Trent and Howe, Doug and Westerfield, Monte and Collmer, Candace and Torto-Alalibo, Trudy and Feltrin, Erika and Valle, Giorgio and Bromberg, Susan and Burgess, Shane and McCarthy, Fiona and Gene Ontology Consortium and The Gene Ontology Consortium
Nucleic Acids Research, ISSN 0305-1048, 1/2008, Volume 36, Issue suppl_1, pp. D440 - D444
The Gene Ontology (GO) project (http://www.geneontology.org/) provides a set of structured, controlled vocabularies for community use in annotating genes, gene... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | SEQUENCE ONTOLOGY | User-Computer Interface | Databases, Genetic - standards | Animals | Vocabulary, Controlled | Genomics | Humans | Rats | Mice | Internet | Sequence Analysis
Journal Article
by Harris, Midori A and Clark, Jennifer I and Ireland, Amelia and Lomax, Jane and Ashburner, Michael and Collins, Russell and Eilbeck, Karen and Lewis, Suzanna and Mungall, Chris and Richter, John and Rubin, Gerald M and Shu, ShengQiang and Blake, Judith A and Bult, Carol J and Diehl, Alexander D and Dolan, Mary E and Drabkin, Harold J and Eppig, Janan T and Hill, David P and Ni, Li and Ringwald, Martin and Balakrishnan, Rama and Binkley, Gail and Michael Cherry, J and Christie, Karen R and Costanzo, Maria C and Dong, Qing and Engel, Stacia R and Fisk, Dianna G and Hirschman, Jodi E and Hitz, Benjamin C and Hong, Eurie L and Lane, Christopher and Miyasato, Stuart and Nash, Robert and Sethuraman, Anand and Skrzypek, Marek and Theesfeld, Chandra L and Weng, Shuai and Botstein, David and Dolinski, Kara and Oughtred, Rose and Berardini, Tanya and Mundodi, Suparna and Rhee, Seung Y and Apweiler, Rolf and Barrell, Daniel and Camon, Evelyn and Dimmer, Emily and Mulder, Nicola and Chisholm, Rex and Fey, Petra and Gaudet, Pascale and Kibbe, Warren and Pilcher, Karen and Bastiani, Carol A and Kishore, Ranjana and Schwarz, Erich M and Sternberg, Paul and Van Auken, Kimberly and Gwinn, Michelle and Hannick, Linda and Wortman, Jennifer and Aslett, Martin and Berriman, Matthew and Wood, Valerie and Bromberg, Susan and Foote, Cindy and Jacob, Howard and Pasko, Dean and Petri, Victoria and Reilly, Dorothy and Seiler, Kathy and Shimoyama, Mary and Smith, Jennifer and Twigger, Simon and Jaiswal, Pankaj and Seigfried, Trent and Collmer, Candace and Howe, Doug and Westerfield, Monte and Gene Ontology Consortium
Nucleic acids research, ISSN 0305-1048, 01/2006, Volume 34, Issue Database issue, pp. D322 - D326
The Gene Ontology (GO) project (http://www.geneontology.org) develops and uses a set of structured, controlled vocabularies for community use in annotating... 
PATHWAYS | CONSISTENCY | DATABASE | ANNOTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | KNOWLEDGE | BIOLOGY | UNIFICATION | SEQUENCE ONTOLOGY | RESOURCE | TOOL | User-Computer Interface | Databases, Genetic - standards | Gene Expression | Vocabulary, Controlled | Database Management Systems | Genes | Software | Internet | Sequence Analysis | Quality Control
Journal Article