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Journal Article
by Leung, Wilson and Shaffer, Christopher D and Reed, Laura K and Smith, Sheryl T and Barshop, William and Dirkes, William and Dothager, Matthew and Lee, Paul and Wong, Jeannette and Xiong, David and Yuan, Han and Bedard, James E.J and Machone, Joshua F and Patterson, Seantay D and Price, Amber L and Turner, Bryce A and Robic, Srebrenka and Luippold, Erin K and McCartha, Shannon R and Walji, Tezin A and Walker, Chelsea A and Saville, Kenneth and Abrams, Marita K and Armstrong, Andrew R and Armstrong, William and Bailey, Robert J and Barberi, Chelsea R and Beck, Lauren R and Blaker, Amanda L and Blunden, Christopher E and Brand, Jordan P and Brock, Ethan J and Brooks, Dana W and Brown, Marie and Butzler, Sarah C and Clark, Eric M and Clark, Nicole B and Collins, Ashley A and Cotteleer, Rebecca J and Cullimore, Peterson R and Dawson, Seth G and Docking, Carter T and Dorsett, Sasha L and Dougherty, Grace A and Downey, Kaitlyn A and Drake, Andrew P and Earl, Erica K and Floyd, Trevor G and Forsyth, Joshua D and Foust, Jonathan D and Franchi, Spencer L and Geary, James F and Hanson, Cynthia K and Harding, Taylor S and Harris, Cameron B and Heckman, Jonathan M and Holderness, Heather L and Howey, Nicole A and Jacobs, Dontae A and Jewell, Elizabeth S and Kaisler, Maria and Karaska, Elizabeth A and Kehoe, James L and Koaches, Hannah C and Koehler, Jessica and Koenig, Dana and Kujawski, Alexander J and Kus, Jordan E and Lammers, Jennifer A and Leads, Rachel R and Leatherman, Emily C and Lippert, Rachel N and Messenger, Gregory S and Morrow, Adam T and NewcombVictoria, Haley J and Plasman, Plasman and Potocny, Stephanie J and Powers, Michelle K and Reem, Rachel M and Rennhack, Jonathan P and Reynolds, Katherine R and Reynolds, Lyndsey A and Rhee, Dong K and Rivard, Allyson B and Ronk, Adam J and Rooney, Meghan B and Rubin, Lainey S and Salbert, Luke R and Saluja, Rasleen K and Schauder, Taylor and Schneiter, Allison R and Schulz, Robert W and Smith, Karl E and Spencer, Sarah and Swanson, Bryant R and Tache, Melissa A and Tewilliager, Ashley A and Tilot, Amanda K and VanEck, Eve and Villerot, Matthew M and ... and Participating Students Fac Genomic
G3: Genes, Genomes, Genetics, ISSN 2160-1836, 2015, Volume 5, Issue 5, pp. 719 - 740
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2018, Volume 20, Issue 3, pp. 369 - 373
Purpose: To describe the frequency and nature of differences in variant classifications between clinicians and genetic testing laboratories. Methods:... 
genetic counseling | cardiovascular genetics | variant classification | interpretation | genetic testing | GUIDELINES | GENETICS & HEREDITY | GENETIC-VARIANTS | PATHOLOGY | Testing laboratories | Classification
Journal Article
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
Journal Article
by Oláhová, Monika and Yoon, Wan Hee and Thompson, Kyle and Jangam, Sharayu and Fernandez, Liliana and Davidson, Jean M and Kyle, Jennifer E and Grove, Megan E and Fisk, Dianna G and Kohler, Jennefer N and Holmes, Matthew and Dries, Annika M and Huang, Yong and Zhao, Chunli and Contrepois, Kévin and Zappala, Zachary and Frésard, Laure and Waggott, Daryl and Zink, Erika M and Kim, Young-Mo and Heyman, Heino M and Stratton, Kelly G and Webb-Robertson, Bobbie-Jo M and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak 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 Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D 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 Dillon, Ani 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 Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Ferreira, Carlos and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A 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 Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Kohane, Isaac S and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Lalani, Seema R and Lau, C. Christopher and Lazar, Jozef and ... and Undiagnosed Diseases Network and Pacific Northwest National Lab. (PNNL), Richland, WA (United States)
The American Journal of Human Genetics, ISSN 0002-9297, 03/2018, Volume 102, Issue 3, pp. 494 - 504
Journal Article