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by Kelly, McKenna and Park, Meredith and Mihalek, Ivana and Rochtus, Anne and Gramm, Marie and Pérez‐Palma, Eduardo and Axeen, Erika Takle and Hung, Christina Y and Olson, Heather and Swanson, Lindsay and Anselm, Irina and Briere, Lauren C and High, Frances A and Sweetser, David A and Kayani, Saima and Snyder, Molly and Calvert, Sophie and Scheffer, Ingrid E and Yang, Edward and Waugh, Jeff L and Lal, Dennis and Bodamer, Olaf and Poduri, Annapurna 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 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 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 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 High, Francis and Holm, Ingrid A and Hom, Jason and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Epilepsia, ISSN 0013-9580, 03/2019, Volume 60, Issue 3, pp. 406 - 418
Journal Article
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
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 Newman, John H and Shaver, Aaron and Sheehan, Jonathan H and Mallal, Simon and Stone, John H and Pillai, Shiv and Bastarache, Lisa and Riebau, Derek and Allard‐Chamard, Hugues and Stone, William M and Perugino, Cory and Pilkinton, Mark and Smith, Scott A and McDonnell, Wyatt J and Capra, John A and Meiler, Jens and Cogan, Joy and Xing, Kelly and Mahajan, Vinay S and Mattoo, Hamid and Hamid, Rizwan and Phillips, John A 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 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 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 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 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 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 Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R 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 ... and Undiagnosed Dis Network and Undiagnosed Disease Network
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 06/2019, Volume 7, Issue 6, pp. e686 - n/a
Journal Article
Journal Article