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Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2018, Volume 176, Issue 4, pp. 925 - 935
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 08/2019, Volume 21, Issue 8, pp. 1899 - 1899
The original version of this Article contained an error in the spelling of the author J. Lawrence Merritt, which was incorrectly given as Lawrence Merritt.... 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 601 - 607
Purpose: TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described... 
epilepsy | intragenic deletion | developmental delay DNA copy-number variation | exome sequencing | METABOLIC CRISES | GENETICS & HEREDITY
Journal Article
Journal of Magnetic Resonance Imaging, ISSN 1053-1807, 12/2015, Volume 42, Issue 6, pp. 1611 - 1622
Journal Article
by Karolak, Justyna A and Vincent, Marie and Deutsch, Gail and Gambin, Tomasz and Cogné, Benjamin and Pichon, Olivier and Vetrini, Francesco and Mefford, Heather C and Dines, Jennifer N and Golden-Grant, Katie and Dipple, Katrina and Freed, Amanda S and Leppig, Kathleen A and Dishop, Megan and Mowat, David and Bennetts, Bruce and Gifford, Andrew J and Weber, Martin A and Lee, Anna F and Boerkoel, Cornelius F and Bartell, Tina M and Ward-Melver, Catherine and Besnard, Thomas and Petit, Florence and Bache, Iben and Tümer, Zeynep and Denis-Musquer, Marie and Joubert, Madeleine and Martinovic, Jelena and Bénéteau, Claire and Molin, Arnaud and Carles, Dominique and André, Gwenaelle and Bieth, Eric and Chassaing, Nicolas and Devisme, Louise and Chalabreysse, Lara and Pasquier, Laurent and Secq, Véronique and Don, Massimiliano and Orsaria, Maria and Missirian, Chantal and Mortreux, Jérémie and Sanlaville, Damien and Pons, Linda and Küry, Sébastien and Bézieau, Stéphane and Liet, Jean-Michel and Joram, Nicolas and Bihouée, Tiphaine and Scott, Daryl A and Brown, Chester W and Scaglia, Fernando and Tsai, Anne Chun-Hui and Grange, Dorothy K and Phillips, John A and Pfotenhauer, Jean P and Jhangiani, Shalini N and Gonzaga-Jauregui, Claudia G and Chung, Wendy K and Schauer, Galen M and Lipson, Mark H and Mercer, Catherine L and van Haeringen, Arie and Liu, Qian and Popek, Edwina and Coban Akdemir, Zeynep H and Lupski, James R and Szafranski, Przemyslaw and Isidor, Bertrand and Le Caignec, Cedric and Stankiewicz, Paweł
The American Journal of Human Genetics, ISSN 0002-9297, 02/2019, Volume 104, Issue 2, pp. 213 - 228
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, Julian A and Martínez-Agosto, Julián A and Herzog, Matthew and Herzog, Matthew R and Chen, Agnes H and Chen, Shan and Dickson, Patricia I and Lin, Henry J and Vera, Moin U and Salamon, Noriko and Ortiz, Damara and Infante, Elena and Steyaert, Wouter and Dermaut, Bart and Poppe, Bruce and Chung, Hyung-Lok and Zuo, Zhongyuan and Lee, Hane and Lee, Brendan H and Lee, Brendan and Lee, Pei-Tseng and Kanca, Oguz and Xia, Fan and Yang, Yaping and Smith, Kevin S 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 Hemelsoet, Dimitri 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 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 ... and Undiagnosed Dis Network and Program Undiagnosed Dis UD-PrOZA and Program for Undiagnosed Diseases (UD-PrOZA) and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 08/2018, Volume 103, Issue 2, pp. 245 - 260
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, Julian A and Martínez-Agosto, Julián A and Herzog, Matthew and Herzog, Matthew R and Chen, Agnes H and Chen, Shan 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 Lee, Hane and Lee, Brendan and Lee, Brendan H and Kanca, Oguz and Xia, Fan and Yang, Yaping and Smith, Kevin S 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 Hemelsoet, Dimitri 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 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 ... and Undiagnosed Dis Network and Program Undiagnosed Dis UD-PrOZA and Program for Undiagnosed Diseases (UD-PrOZA) and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 09/2018, Volume 103, Issue 3, pp. 456 - 456
Journal Article
by Holt, JM and Wilk, B and Birch, CL and Brown, DM and Gajapathy, M and Moss, AC and Sosonkina, N and Wilk, MA and Anderson, JA and Harris, JM and Kelly, JM and Shaterferdosian, F and Uno-Antonison, AE and Weborg, A and Worthey, EA and Acosta, MT and Adam, M and Adams, DR and Agrawal, PB and Alejandro, ME and Allard, P and Alvey, J and Amendola, L and Andrews, A and Ashley, EA and Azamian, MS and Bacino, CA and Bademci, G and Baker, E and Balasubramanyam, A and Baldridge, D and Bale, J and Bamshad, M and Barbouth, D and Batzli, GF and Bayrak-Toydemir, P and Beck, A and Beggs, AH and Bejerano, G and Bellen, HJ and Bennet, J and Berg-Rood, B and Bernier, R and Bernstein, JA and Berry, GT and Bican, A and Bivona, S and Blue, E and Bohnsack, J and Bonnenmann, C and Bonner, D and Botto, L and Briere, LC and Brokamp, E and Burke, EA and Burrage, LC and Butte, MJ and Byers, P and Carey, J and Carrasquillo, O and Chang, TCP and Chanprasert, S and Chao, HT and Clark, GD and Coakley, TR and Cobban, LA and Cogan, JD and Cole, FS and Colley, HA and Cooper, CM and Cope, H and Craigen, WJ and Cunningham, M and D'Souza, P and Dai, HZ and Dasari, S and Davids, M and Dayal, JG and Dell'Angelica, EC and Dhar, SU and Dipple, K and Doherty, D and Dorrani, N and Douine, ED and Draper, DD and Duncan, L and Earl, D and Eckstein, DJ and Emrick, LT and Eng, CM and Esteves, C and Estwick, T and Fernandez, L and Ferreira, C and Fieg, EL and Fisher, PG and Fogel, BL and Forghani, I and Fresard, L and Gahl, WA and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
BMC BIOINFORMATICS, ISSN 1471-2105, 10/2019, Volume 20, Issue 1, pp. 1 - 10
Background When applying genomic medicine to a rare disease patient, the primary goal is to identify one or more genomic variants that may explain the... 
GUIDELINES | BIOCHEMICAL RESEARCH METHODS | PHENOTYPE | STANDARDS | MEDICAL GENETICS | IDENTIFICATION | RECOMMENDATION | DISCOVERY | PREDICTION | Variant prioritization | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Clinical genome sequencing | ASSOCIATION | Binary classification | DIAGNOSTICS
Journal Article
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