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Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism Samra, Simran; Sharma, Mehul; Vaseghi-Shanjani, Maryam; Del Bel, Kate L.; Byres, Loryn; Lin, Susan; Dalmann, Joshua; Salman, Areesha; Mwenifumbo, Jill; Modi, Bhavi P.; Biggs, Catherine M.; Boelman, Cyrus; Clarke, Lorne A.; Lehman, Anna; Turvey, Stuart E. Share Save
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study Elliott, Alison M.; Adam, Shelin; du Souich, Christele; Lehman, Anna; Nelson, Tanya N.; van Karnebeek, Clara; Alderman, Emily; Armstrong, Linlea; Aubertin, Gudrun; Blood, Katherine; Boelman, Cyrus; Boerkoel, Cornelius; Bretherick, Karla; Brown, Lindsay; Chijiwa, Chieko; Clarke, Lorne; Couse, Madeline; Creighton, Susan; Watts-Dickens, Abby; Gibson, William T.; Gill, Harinder; Tarailo-Graovac, Maja; Hamilton, Sara; Heran, Harindar; Horvath, Gabriella; Huang, Lijia; Hulait, Gurdip K.; Koehn, David; Lee, Hyun Kyung; Lewis, Suzanne; Lopez, Elena; Louie, Kristal; Niederhoffer, Karen; Matthews, Allison; Meagher, Kirsten; Peng, Junran J.; Patel, Millan S.; Race, Simone; Richmond, Phillip; Rupps, Rosemarie; Salvarinova, Ramona; Seath, Kimberly; Selby, Kathryn; Steinraths, Michelle; Stockler, Sylvia; Tang, Kaoru; Tyson, Christine; van Allen, Margot; Wasserman, Wyeth; Mwenifumbo, Jill; Friedman, Jan M. Share Save
SETD1B-associated neurodevelopmental disorder Roston, Alexandra; Evans, Dan; Gill, Harinder; McKinnon, Margaret; Isidor, Bertrand; Cogne, Benjamin; Mwenifumbo, Jill; van Karnebeek, Clara; An, Jianghong; Jones, Steven J. M.; Farrer, Matthew; Demos, Michelle; Connolly, Mary; Gibson, William T. Share Save
Atypical cerebral palsy: genomics analysis enables precision medicine Matthews, Allison M.; Blydt-Hansen, Ingrid; Al-Jabri, Basmah; Andersen, John; Tarailo-Graovac, Maja; Price, Magda; Selby, Katherine; Demos, Michelle; Connolly, Mary; Drogemoller, Britt; Shyr, Casper; Mwenifumbo, Jill; Elliott, Alison M.; Lee, Jessica; Ghani, Aisha; Stockler, Sylvia; Salvarinova, Ramona; Vallance, Hilary; Sinclair, Graham; Ross, Colin J.; Wasserman, Wyeth W.; McKinnon, Margaret L.; Horvath, Gabriella A.; Goez, Helly; van Karnebeek, Clara D. Share Save
The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study Dragojlovic, Nick; Elliott, Alison M.; Adam, Shelin; van Karnebeek, Clara; Lehman, Anna; Mwenifumbo, Jill C.; Nelson, Tanya N.; du Souich, Christele; Friedman, Jan M.; Lynd, Larry D. Share Save
Mutations in Kv7.5 Channels Associated with Intellectual Disability or Epileptic Encephalopathy Lehman, Anna; Thouta, Samrat; Mancini, Grazia M. S.; Van Slegtenhorst, Marjon; Naidu, Sakkubai; Desai, Sonal; McWalter, Kirsty; Person, Richard; Mwenifumbo, Jill; Salvarinova, Ramona; Guella, Ilaria; McKenzie, Marna B.; Farrer, Matthew J.; Datta, Anita; Connolly, Mary B.; Demos, Michelle; Kalkhoran, Somayeh Mojard; Poburko, Damon; Friedman, Jan M.; Claydon, Thomas Share Save
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy Lehman, Anna; Thouta, Samrat; Mancini, Grazia M. S.; Naidu, Sakkubai; van Slegtenhorst, Marjon; McWalter, Kirsty; Person, Richard; Mwenifumbo, Jill; Salvarinova, Ramona; Guella, Ilaria; McKenzie, Marna B.; Datta, Anita; Connolly, Mary B.; Kalkhoran, Somayeh Mojard; Poburko, Damon; Friedman, Jan M.; Farrer, Matthew J.; Demos, Michelle; Desai, Sonal; Claydon, Thomas Share Save
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability Zahir, Farah R.; Mwenifumbo, Jill C.; Chun, Hye-Jung E.; Lim, Emilia L.; Van Karnebeek, Clara D. M.; Couse, Madeline; Mungall, Karen L.; Lee, Leora; Makela, Nancy; Armstrong, Linlea; Boerkoel, Cornelius F.; Langlois, Sylvie L.; McGillivray, Barbara M.; Jones, Steven J. M.; Friedman, Jan M.; Marra, Marco A. Share Save
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Alternative expression analysis by RNA sequencing Griffith, Malachi; Griffith, Obi L.; Mwenifumbo, Jill; Goya, Rodrigo; Morrissy, A. Sorana; Morin, Ryan D.; Corbett, Richard; Tang, Michelle J.; Hou, Ying-Chen; Pugh, Trevor J.; Robertson, Gordon; Chittaranjan, Suganthi; Ally, Adrian; Asano, Jennifer K.; Chan, Susanna Y.; Li, Haiyan I.; McDonald, Helen; Teague, Kevin; Zhao, Yongjun; Zeng, Thomas; Delaney, Allen; Hirst, Martin; Morin, Gregg B.; Jones, Steven J. M.; Tai, Isabella T.; Marra, Marco A. Share Save
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