Browsing by Author Boycott, Kym M

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Showing results 1 to 12 of 12

DateTitleAuthor(s)
15-Jun-2012A generalizable pre-clinical research approach for orphan disease therapyBeaulieu, Chandree L; Samuels, Mark E; Ekins, Sean; McMaster, Christopher R; Edwards, Aled M; Krainer, Adrian R; Hicks, Geoffrey G; Frey, Brendan J; Boycott, Kym M; MacKenzie, Alex E
21-Nov-2012Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotypeFernandez, Bridget A; Green, Jane S; Bursey, Ford; Barrett, Brendan; MacMillan, Andrée; McColl, Sarah; Fernandez, Sara; Rahman, Proton; Mahoney, Krista; Pereira, Sergio L; Scherer, Stephen W; Boycott, Kym M; Woods, Michael O
25-Mar-2014An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeBrownstein, Catherine A; Beggs, Alan H; Homer, Nils; Merriman, Barry; Yu, Timothy W; Flannery, Katherine C; DeChene, Elizabeth T; Towne, Meghan C; Savage, Sarah K; Price, Emily N; Holm, Ingrid A; Luquette, Lovelace J; Lyon, Elaine; Majzoub, Joseph; Neupert, Peter; McCallie Jr, David; Szolovits, Peter; Willard, Huntington F; Mendelsohn, Nancy J; Temme, Renee; Finkel, Richard S; Yum, Sabrina W; Medne, Livija; Sunyaev, Shamil R; Adzhubey, Ivan; Cassa, Christopher A; de Bakker, Paul I; Duzkale, Hatice; Dworzyński, Piotr; Fairbrother, William; Francioli, Laurent; Funke, Birgit H; Giovanni, Monica A; Handsaker, Robert E; Lage, Kasper; Lebo, Matthew S; Lek, Monkol; Leshchiner, Ignaty; MacArthur, Daniel G; McLaughlin, Heather M; Murray, Michael F; Pers, Tune H; Polak, Paz P; Raychaudhuri, Soumya; Rehm, Heidi L; Soemedi, Rachel; Stitziel, Nathan O; Vestecka, Sara; Supper, Jochen; Gugenmus, Claudia; Klocke, Bernward; Hahn, Alexander; Schubach, Max; Menzel, Mortiz; Biskup, Saskia; Freisinger, Peter; Deng, Mario; Braun, Martin; Perner, Sven; Smith, Richard J; Andorf, Janeen L; Huang, Jian; Ryckman, Kelli; Sheffield, Val C; Stone, Edwin M; Bair, Thomas; Black-Ziegelbein, E A; Braun, Terry A; Darbro, Benjamin; DeLuca, Adam P; Kolbe, Diana L; Scheetz, Todd E; Shearer, Aiden E; Sompallae, Rama; Wang, Kai; Bassuk, Alexander G; Edens, Erik; Mathews, Katherine; Moore, Steven A; Shchelochkov, Oleg A; Trapane, Pamela; Bossler, Aaron; Campbell, Colleen A; Heusel, Jonathan W; Kwitek, Anne; Maga, Tara; Panzer, Karin; Wassink, Thomas; Van Daele, Douglas; Azaiez, Hela; Booth, Kevin; Meyer, Nic; Segal, Michael M; Williams, Marc S; Tromp, Gerard; White, Peter; Corsmeier, Donald; Fitzgerald-Butt, Sara; Herman, Gail; Lamb-Thrush, Devon; McBride, Kim L; Newsom, David; Pierson, Christopher R; Rakowsky, Alexander T; Maver, Aleš; Lovrečić, Luca; Palandačić, Anja; Peterlin, Borut; Torkamani, Ali; Wedell, Anna; Huss, Mikael; Alexeyenko, Andrey; Lindvall, Jessica M; Magnusson, Måns; Nilsson, Daniel; Stranneheim, Henrik; Taylan, Fulya; Gilissen, Christian; Hoischen, Alexander; van Bon, Bregje; Yntema, Helger; Nelen, Marcel; Zhang, Weidong; Sager, Jason; Zhang, Lu; Blair, Kathryn; Kural, Deniz; Cariaso, Michael; Lennon, Greg G; Javed, Asif; Agrawal, Saloni; Ng, Pauline C; Sandhu, Komal S; Krishna, Shuba; Veeramachaneni, Vamsi; Isakov, Ofer; Halperin, Eran; Friedman, Eitan; Shomron, Noam; Glusman, Gustavo; Roach, Jared C; Caballero, Juan; Cox, Hannah C; Mauldin, Denise; Ament, Seth A; Rowen, Lee; Richards, Daniel R; Lucas, F A S; Gonzalez-Garay, Manuel L; Caskey, C T; Bai, Yu; Huang, Ying; Fang, Fang; Zhang, Yan; Wang, Zhengyuan; Barrera, Jorge; Garcia-Lobo, Juan M; González-Lamuño, Domingo; Llorca, Javier; Rodriguez, Maria C; Varela, Ignacio; Reese, Martin G; De La Vega, Francisco M; Kiruluta, Edward; Cargill, Michele; Hart, Reece K; Sorenson, Jon M; Lyon, Gholson J; Stevenson, David A; Bray, Bruce E; Moore, Barry M; Eilbeck, Karen; Yandell, Mark; Zhao, Hongyu; Hou, Lin; Chen, Xiaowei; Yan, Xiting; Chen, Mengjie; Li, Cong; Yang, Can; Gunel, Murat; Li, Peining; Kong, Yong; Alexander, Austin C; Albertyn, Zayed I; Boycott, Kym M; Bulman, Dennis E; Gordon, Paul M; Innes, A M; Knoppers, Bartha M; Majewski, Jacek; Marshall, Christian R; Parboosingh, Jillian S; Sawyer, Sarah L; Samuels, Mark E; Schwartzentruber, Jeremy; Kohane, Isaac S; Margulies, David M
26-Mar-2014Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial diseaseMcMillan, Hugh J; Schwartzentruber, Jeremy; Smith, Amanda; Lee, Suzie; Chakraborty, Pranesh; Bulman, Dennis E; Beaulieu, Chandree L; Majewski, Jacek; Boycott, Kym M; Geraghty, Michael T
5-Sep-2016Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsyKernohan, Kristin D; Cigana Schenkel, Laila; Huang, Lijia; Smith, Amanda; Pare, Guillaume; Ainsworth, Peter; Boycott, Kym M; Warman-Chardon, Jodi; Sadikovic, Bekim
10-Mar-2017Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndromeSchenkel, Laila C; Kernohan, Kristin D; McBride, Arran; Reina, Ditta; Hodge, Amanda; Ainsworth, Peter J; Rodenhiser, David I; Pare, Guillaume; Bérubé, Nathalie G; Skinner, Cindy; Boycott, Kym M; Schwartz, Charles; Sadikovic, Bekim
26-Apr-2013Intellectual disability associated with a homozygous missense mutation in THOC6Beaulieu, Chandree L; Huang, Lijia; Innes, A M; Akimenko, Marie-Andree; Puffenberger, Erik G; Schwartz, Charles; Jerry, Paul; Ober, Carole; Hegele, Robert A; McLeod, D R; Schwartzentruber, Jeremy; Majewski, Jacek; Bulman, Dennis E; Parboosingh, Jillian S; Boycott, Kym M
17-Sep-2012Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxiaHuang, Lijia; Chardon, Jodi W; Carter, Melissa T; Friend, Kathie L; Dudding, Tracy E; Schwartzentruber, Jeremy; Zou, Ruobing; Schofield, Peter W; Douglas, Stuart; Bulman, Dennis E; Boycott, Kym M
9-Jul-2013Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduriaMarcadier, Julien L; Smith, Amanda M; Pohl, Daniela; Schwartzentruber, Jeremy; Al-Dirbashi, Osama Y; Majewski, Jacek; Ferdinandusse, Sacha; Wanders, Ronald J; Bulman, Dennis E; Boycott, Kym M; Chakraborty, Pranesh; Geraghty, Michael T
22-Nov-2012Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiencyMcMillan, Hugh J; Worthylake, Thea; Schwartzentruber, Jeremy; Gottlieb, Chloe C; Lawrence, Sarah E; MacKenzie, Alex; Beaulieu, Chandree L; Mooyer, Petra A W; Wanders, Ronald J A; Majewski, Jacek; Bulman, Dennis E; Geraghty, Michael T; Ferdinandusse, Sacha; Boycott, Kym M
27-Apr-2013The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPNikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; da Cunha, Bruna S; Delaney, Louisa A; Destrée, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M; Héron, Delphine; Hoischen, Alexander; Honey, Engela M; Hoefsloot, Lies H; Ibrahim, Jennifer; Jacob, Claire M; Kant, Sarina G; Kim, Chong A; Kirk, Edwin P; Knoers, Nine V; Lacombe, Didier; Lee, Chung; Lo, Ivan F; Lucas, Luiza S; Mari, Francesca; Mericq, Veronica; Moilanen, Jukka S; Møller, Sanne T; Moortgat, Stephanie; Pilz, Daniela T; Pope, Kate; Price, Susan; Renieri, Alessandra; Sá, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L; Simon, Marleen E; Slavotinek, Anne; Temple, I K; van der Burgt, Ineke; de Vries, Bert B; Weisfeld-Adams, James D; Whiteford, Margo L; Wierczorek, Dagmar; Wit, Jan M; Yee, Connie F O; Beaulieu, Chandree L; White, Sue M; Bulman, Dennis E; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M
31-Jan-2014The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndromeMcDonell, Laura M; Warman Chardon, Jodi; Schwartzentruber, Jeremy; Foster, Denise; Beaulieu, Chandree L; Majewski, Jacek; Bulman, Dennis E; Boycott, Kym M
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