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Nature genetics, ISSN 1061-4036, 06/2013, Volume 45, Issue 6, pp. 613 - 620
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 Dis Network and Undiagnosed Diseases Network
Nature medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
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
American journal of respiratory and critical care medicine, ISSN 1073-449X, 02/2015, Volume 191, Issue 4, pp. 417 - 426
Journal Article
by Moore, Camille and Blumhagent, Rachel Z and Yang, Ivana and Walts, Avram and Powers, Julie and Walker, Tank and Bishop, Makenna and Russell, Pamela and Vestal, Brian and Cardwell, Jonathan and Markin, Cheryl R and Mathai, Susan K and Schwarz, Marvin and Steele, Mark P and Lee, Joyce and Brown, Kevin K and Loyd, James E and Crapo, James D and Silverman, Edwin K and Cho, Michael H and James, Judith A and Guthridge, Joel M and Cogan, Joy D and Kropski, Jonathan A and Swigris, Jeffrey J and Bair, Carol and Kim, Dong Soon and Ji, Wonjun and Kim, Hocheol and Song, Jin Woo and Maier, Lisa A and Pacheco, Karin A and Hirani, Nikhil and Poon, Azin S and Li, Feng and Jenkins, R. Gisli and Braybrooke, Rebecca and Saini, Gauri and Maher, Toby M and Molyneaux, Philip L and Saunders, Peter and Zhang, Yingze and Gibson, Kevin F and Kass, Daniel J and Rojas, Mauricio and Sembrat, John and Wolters, Paul J and Collard, Harold R and Sundy, John S and O'Riordan, Thomas and Strek, Mary E and Noth, Imre and Ma, Shwu-Fan and Porteous, Mary K and Kreider, Maryl E and Patel, Namrata B and Inoue, Yoshikazu and Hirose, Masaki and Arai, Toru and Akagawa, Shinobu and Eickelberg, Oliver and Fernandez, Isis Enlil and Behr, Juergen and Mogulkoc, Nesrin and Corte, Tamera J and Glaspole, Ian and Tomassetti, Sara and Ravaglia, Claudia and Poletti, Venerino and Crestani, Bruno and Borie, Raphael and Kannengiesser, Caroline and Parfrey, Helen and Fiddler, Christine and Rassl, Doris and Molina-Molina, Maria and Machahua, Carlos and Worboys, Ana Montes and Gudmundsson, Gunnar and Isaksson, Helgi J and Lederer, David J and Podolanczuk, Anna J and Montesi, Sydney B and Bendstrup, Elisabeth and Danchel, Vivi and Selman, Moises and Pardo, Annie and Henry, Michael T and Keane, Michael P and Doran, Peter and Vasakova, Martina and Sterclova, Martina and Ryerson, Christopher J and Wilcox, Pearce G and Okamoto, Tsukasa and Furusawa, Haruhiko and Miyazaki, Yasunari and Laurent, Geoffrey and Baltic, Svetlana and Prele, Cecilia and ...
American journal of respiratory and critical care medicine, ISSN 1073-449X, 07/2019, Volume 200, Issue 2, pp. 199 - 208
Journal Article