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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2012, Volume 109, Issue 16, pp. 6241 - 6246
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2012, Volume 49, Issue 6, pp. 353 - 361
Journal Article
by Pena, Loren D.M and Jiang, Yong-Hui and Schoch, Kelly and Spillmann, Rebecca C and Walley, Nicole and Stong, Nicholas and Horn, Sarah Rapisardo and Sullivan, Jennifer A and McConkie-Rosell, Allyn and Kansagra, Sujay and Smith, Edward C and El-Dairi, Mays and Bellet, Jane and Keels, Martha Ann and Jasien, Joan and Kranz, Peter G and Noel, Richard and Nagaraj, Shashi K and Lark, Robert K and Wechsler, Daniel S.G and Del Gaudio, Daniela and Leung, Marco L and Hendon, Laura G and Parker, Collette C and Jones, Kelly L and Goldstein, David B and Shashi, Vandana and Alejandro, Mercedes E and Bacino, Carlos A and Balasubramanyam, Ashok and Bostwick, Bret L and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Craigen, William J and Dhar, Shweta U and Emrick, Lisa T and Graham, Brett H and Hanchard, Neil A and Jain, Mahim and Lalani, Seema R and Lee, Brendan H and Lewis, Richard A and Azamian, Mashid S and Moretti, Paolo M and Nicholas, Sarah K and Orange, Jordan S and Posey, Jennifer E and Potocki, Lorraine and Rosenfeld, Jill A and Samson, Susan L and Scott, Daryl A and Tran, Alyssa A and Vogel, Tiphanie P and Zhang, Jing and Bellen, Hugo J and Wangler, Michael F and Yamamoto, Shinya and Eng, Christine M and Muzny, Donna M and Ward, Patricia A and Yang, Yaping and Pena, Loren D.M and Walley, Nicole M and Beggs, Alan H and Briere, Lauren C and Cooper, Cynthia M and Donnell-Fink, Laurel A and Krieg, Elizabeth L and Krier, Joel B and Lincoln, Sharyn A and Loscalzo, Joseph and Maas, Richard L and MacRae, Calum A and Pallais, J. Carl and Rodan, Lance H and Silverman, Edwin K and Stoler, Joan M and Sweetser, David A and Walsh, Chris A and Esteves, Cecilia and Holm, Ingrid A and Kohane, Isaac S and Mazur, Paul and McCray, Alexa T and Might, Matthew and Ramoni, Rachel B and Splinter, Kimberly and Bick, David P and Birch, Camille L and Boone, Braden E and Brown, Donna M and Dorset, Daniel C and Handley, Lori H and Jacob, Howard J and Jones, Angela L and Lazar, Jozef and Levy, Shawn E and Newberry, J. Scott and Schroeder, Molly C and ... and Undiagnosed Dis Network Members and Undiagnosed Diseases Network Members
Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 464 - 469
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2017, Volume 54, Issue 3, pp. 155 - 156
Journal Article
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
Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 236 - 11
Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively capture pathogenic non- coding... 
EVOLUTION | DE-NOVO MUTATIONS | GENETICS | MULTIDISCIPLINARY SCIENCES | DISEASE | GENES | GUIDELINES | SEQUENCE VARIANTS | RISK | SYNONYMOUS VARIANTS | Exome | Genetic Variation | Introns | Gene Frequency | Humans | Molecular Sequence Annotation | Databases, Genetic | Epilepsy - genetics | Pathogenicity | Pathogens | Splicing | Transcription | World Wide Web | Internet | Servers (computers)
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2016, Volume 44, Issue 1, pp. D733 - D745
Journal Article