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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 Dis Network and Undiagnosed Diseases Network
Nature medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Journal Article
by Accogli, Andrea and Calabretta, Sara and St-Onge, Judith and Boudrahem-Addour, Nassima and Dionne-Laporte, Alexandre and Joset, Pascal and Azzarello-Burri, Silvia and Rauch, Anita and Krier, Joel and Fieg, Elizabeth and Pallais, Juan C and Acosta, Maria T and Adams, David R and Agrawal, Pankaj and Alejandro, Mercedes E and Allard, Patrick and Alvey, Justin and Andrews, Ashley and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Bademci, Guney and Baker, Eva and Balasubramanyam, Ashok and Baldridge, Dustin and Bale, Jim and Barbouth, Deborah and Batzli, Gabriel F and Bayrak-Toydemir, Pinar and Beggs, Alan H and Bejerano, Gill and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bivona, Stephanie and Bohnsack, John and Bonnenmann, Carsten and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Botto, Lorenzo 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 Carey, John and Carrasquillo, Olveen and Chang, Ta Chen Peter and Chao, Hsiao-Tuan and Clark, Gary D and Coakley, Terra R and Cobban, Laurel A and Cogan, Joy D and Cole, F. Sessions and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Dasari, Surendra and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M 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 Forghani, Irman and Fresard, Laure and Gahl, William A and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gourdine, Jean-Philippe F and Grajewski, Alana and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Hayes, Nichole and High, Frances and ... and Undiagnosed Diseases Network
American journal of human genetics, ISSN 0002-9297, 10/2019, Volume 105, Issue 4, pp. 854 - 868
Journal Article
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R 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 Cogan, Joy D 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 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 Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Journal Article
by Marcogliese, Paul C and Shashi, Vandana and Spillmann, Rebecca C and Stong, Nicholas and Rosenfeld, Jill A and Koenig, Mary Kay and Martínez-Agosto, Julián A and Herzog, Matthew and Chen, Agnes H and Dickson, Patricia I and Lin, Henry J and Vera, Moin U and Salamon, Noriko and Graham, John M and Ortiz, Damara and Infante, Elena and Steyaert, Wouter and Dermaut, Bart and Poppe, Bruce and Chung, Hyung-Lok and Zuo, Zhongyuan and Lee, Pei-Tseng and Kanca, Oguz and Xia, Fan and Yang, Yaping and Smith, Edward C and Jasien, Joan and Kansagra, Sujay and Spiridigliozzi, Gail and El-Dairi, Mays and Lark, Robert and Riley, Kacie and Koeberl, Dwight D and Golden-Grant, Katie and Callens, Steven and Coucke, Paul and Dermaut, Bart and Hemelsoet, Dimitri and Poppe, Bruce and Steyaert, Wouter and Terryn, Wim and Van Coster, Rudy 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 ... and Program for Undiagnosed Diseases (UD-PrOZA) and Undiagnosed Diseases Network and Undiagnosed Dis Network and Program Undiagnosed Dis UD-PrOZA
American journal of human genetics, ISSN 0002-9297, 08/2018, Volume 103, Issue 2, pp. 245 - 260
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 Huang, Yong 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 ... and Undiagnosed Diseases Network and Pacific Northwest National Lab. (PNNL), Richland, WA (United States)
American journal of human genetics, ISSN 0002-9297, 03/2018, Volume 102, Issue 3, pp. 494 - 504
Journal Article
by Nicoli, Elena-Raluca and Weston, Mary R and Hackbarth, Mary and Becerril, Alissa and Larson, Austin and Zein, Wadih M and Baker, Peter R and Burke, John Douglas and Dorward, Heidi and Davids, Mariska and Huang, Yan and Adams, David R and Zerfas, Patricia M and Chen, Dong and Markello, Thomas C and Toro, Camilo and Wood, Tim and Elliott, Gene and Vu, Mylinh and Acosta, Maria T and Adams, David R and Agrawal, Pankaj and Alejandro, Mercedes E and Allard, Patrick and Alvey, Justin and Andrews, Ashley and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Bademci, Guney and Baker, Eva and Balasubramanyam, Ashok and Baldridge, Dustin and Bale, Jim and Barbouth, Deborah and Batzli, Gabriel F and Bayrak-Toydemir, Pinar and Beggs, Alan H and Bejerano, Gill and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bivona, Stephanie and Bohnsack, John and Bonnenmann, Carsten and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Botto, Lorenzo 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 Carey, John and Carrasquillo, Olveen and Chang, Ta Chen Peter and Chao, Hsiao-Tuan and Clark, Gary D and Coakley, Terra R and Cobban, Laurel A and Cogan, Joy D and Cole, F. Sessions and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D'Souza, Precilla and Dasari, Surendra and Davids, Mariska and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M 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 Forghani, Irman and Fresard, Laure and Gahl, William A and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gourdine, Jean-Philippe F and ... and Undiagnosed Diseases Network and Undiagnosed Dis Network
American journal of human genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1127 - 1138