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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 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
Journal Article
by Kanca, Oguz and Andrews, Jonathan C and Lee, Pei-Tseng and Patel, Chirag and Braddock, Stephen R and Slavotinek, Anne M and Cohen, Julie S and Gubbels, Cynthia S and Aldinger, Kimberly A and Williams, Judy and Indaram, Maanasa and Fatemi, Ali and Yu, Timothy W and Agrawal, Pankaj B and Vezina, Gilbert and Simons, Cas and Crawford, Joanna and Lau, C. Christopher 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 ... and Undiagnosed Diseases Network and Undiagnosed Dis Network
American journal of human genetics, ISSN 0002-9297, 08/2019, Volume 105, Issue 2, pp. 413 - 424
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 Schneeberger, Pauline E and Schneeberger, Pauline E and Kortüm, Fanny and Korenke, Georg Christoph and Alawi, Malik and Santer, René and Woidy, Mathias and Buhas, Daniela and Fox, Stephanie and Juusola, Jane and Alfadhel, Majid and Webb, Bryn D and Coci, Emanuele G and Abou Jamra, Rami and Jamra, Rami Abou and Siekmeyer, Manuela and Biskup, Saskia and Biskup, Saskia and Heller, Corina and Heller, Corina and Maier, Esther M and Javaher-Haghighi, Poupak and Javaher-Haghighi, Poupak and Bedeschi, Maria F and Ajmone, Paola F and Iascone, Maria and Iascone, Maria and Peeters, Hilde and Ballon, Katleen and Jaeken, Jaak and Rodríguez Alonso, Aroa and Alonso, Aroa Rodríguez and Palomares-Bralo, María and Santos-Simarro, Fernando and Meuwissen, Marije E C and Meuwissen, Marije E.C and Beysen, Diane and Frank Kooy, R and Kooy, R Frank and Houlden, Henry and Houlden, Henry and Murphy, David and Murphy, David and Doosti, Mohammad and Doosti, Mohammad and Karimiani, Ehsan G and Karimiani, Ehsan G and Mojarrad, Majid and Maroofian, Reza and Maroofian, Reza and Noskova, Lenka and Kmoch, Stanislav and Honzik, Tomas and Honzik, Tomas and Cope, Heidi and Sanchez-Valle, Amarilis and Gelb, Bruce D and Kurth, Ingo and Hempel, Maja and Kutsche, Kerstin and Kutsche, Kerstin and Acosta, Maria T and Adam, Margaret and Adams, David R and Agrawal, Pankaj B and Alejandro, Mercedes E and Alvey, Justin and Amendola, Laura 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 Bamshad, Michael and Barbouth, Deborah and Batzli, Gabriel F and Bayrak-Toydemir, Pinar and Beck, Anita and Beggs, Alan H and Behrens, Edward and Bejerano, Gill and Bennet, Jimmy and Berg-Rood, Beverly and Bernier, Raphael and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bivona, Stephanie and Blue, Elizabeth and Bohnsack, John and Bonnenmann, Carsten and Bonner, Devon and Botto, Lorenzo and Boyd, Brenna and Briere, Lauren C and Brokamp, Elly and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Brain (London, England : 1878), ISSN 0006-8950, 08/2020, Volume 143, Issue 8, pp. 2437 - 2453
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