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Margaret L. McKinnon

queens university - canada

22H指数
36论文数
2.2K被引数
收录论文 19
发表时间
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease人类生殖系杂合功能增益STAT6变体导致严重的过敏性疾病
err2023-03-08
err41
errOAAI
errSharma, Mehul; Leung, Daniel; Momenilandi, Mana; Jones, Lauren C. W.; Pacillo, Lucia; James, Alyssa E.; Murrell, Jill R.; Delafontaine, Selket; Maimaris, Jesmeen; Vaseghi-Shanjani, Maryam; Del Bel, Kate L.; Lu, Henry Y.; Chua, Gilbert T.; Di Cesare, Silvia; Fornes, Oriol; Liu, Zhongyi; Di Matteo, Gigliola; Fu, Maggie P.; Amodio, Donato; Tam, Issan Yee San; Chan, Gavin Shueng Wai; Sharma, Ashish A.; Dalmann, Joshua; van der Lee, Robin; Blanchard-Rohner, Geraldine; Lin, Susan; Philippot, Quentin; Richmond, Phillip A.; Lee, Jessica J.; Matthews, Allison; Seear, Michael; Turvey, Alexandra K.; Philips, Rachael L.; Brown-Whitehorn, Terri F.; Gray, Christopher J.; Izumi, Kosuke; Treat, James R.; Wood, Kathleen H.; Lack, Justin; Khleborodova, Asya; Niemela, Julie E.; Yang, Xingtian; Liang, Rui; Kui, Lin; Wong, Christina Sze Man; Poon, Grace Wing Kit; Hoischen, Alexander; van der Made, Caspar I.; Yang, Jing; Chan, Koon Wing; Rosa Duque, Jaime Sou Da; Lee, Pamela Pui Wah; Ho, Marco Hok Kung; Chung, Brian Hon Yin; Le, Huong Thi Minh; Yang, Wanling; Rohani, Pejman; Fouladvand, Ali; Rokni-Zadeh, Hassan; Changi-Ashtiani, Majid; Miryounesi, Mohammad; Puel, Anne; Shahrooei, Mohammad; Finocchi, Andrea; Rossi, Paolo; Rivalta, Beatrice; Cifaldi, Cristina; Novelli, Antonio; Passarelli, Chiara; Arasi, Stefania; Bullens, Dominique; Sauer, Kate; Claeys, Tania; Biggs, Catherine M.; Morris, Emma C.; Rosenzweig, Sergio D.; O'Shea, John J.; Wasserman, Wyeth W.; Bedford, H. Melanie; van Karnebeek, Clara D. M.; Palma, Paolo; Burns, Siobhan O.; Meyts, Isabelle; Casanova, Jean-Laurent; Lyons, Jonathan J.; Parvaneh, Nima; Nguyen, Anh Thi Van; Cancrini, Caterina; Heimall, Jennifer; Ahmed, Hanan; McKinnon, Margaret L.; Lau, Yu Lung; Beziat, Vivien; Turvey, Stuart E.
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Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation
err2022-12-22
err8
errOAAI
errBiggs, Catherine M.; Cordeiro-Santanach, Anna; Prykhozhij, Sergey V.; Deveau, Adam P.; Lin, Yi; Bel, Kate L.; Orben, Felix; Ragotte, Robert J.; Saferali, Aabida; Mostafavi, Sara; Dinh, Louie; Dai, Darlene; Weinacht, Katja G.; Dobbs, Kerry; de Bruin, Lisa Ott; Sharma, Mehul; Tsai, Kevin; Priatel, John J.; Schreiber, Richard A.; Rozmus, Jacob; Hosking, Martin C. K.; Shopsowitz, Kevin E.; McKinnon, Margaret L.; Vercauteren, Suzanne; Seear, Michael; Notarangelo, Luigi D.; Lynn, Francis C.; Berman, Jason N.; Turvey, Stuart E.
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SETD1B-associated neurodevelopmental disorder
err2020-06-16
err28
errOAAI
errRoston, 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.
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Atypical cerebral palsy: genomics analysis enables precision medicine
err2019-07-01
err39
errOAAI
errMatthews, 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.
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RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges
err2019-06-07
err65
PREAI
errElliott, Alison M.; du Souich, Christele; Lehman, Anna; Guella, Ilaria; Evans, Daniel M.; Candido, Tara; Tooman, Leah; Armstrong, Linlea; Clarke, Lorne; Gibson, William; Gill, Harinder; Lavoie, Pascal M.; Lewis, Suzanne; McKinnon, Margaret L.; Nikkel, Sarah M.; Patel, Millan; Solimano, Alfonso; Synnes, Anne; Ting, Joseph; van Allen, Margot; Christilaw, Jan; Farrer, Matthew J.; Friedman, Jan M.; Osiovich, Horacio
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Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders
err2018-03-29
err35
errOAAI
errJobling, Rebekah; Stavropoulos, Dimitri James; Marshall, Christian R.; Cytrynbaum, Cheryl; Axford, Michelle M.; Londero, Vanessa; Moalem, Sharon; Orr, Jennifer; Rossignol, Francis; Lopes, Fatima Daniela; Gauthier, Julie; Alos, Nathalie; Rupps, Rosemarie; McKinnon, Margaret; Adam, Shelin; Nowaczyk, Malgorzata J. M.; Walker, Susan; Scherer, Stephen W.; Nassif, Christina; Hamdan, Fadi F.; Deal, Cheri L.; Soucy, Jean-Francois; Weksberg, Rosanna; Macleod, Patrick; Michaud, Jacques L.; Chitayat, David
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JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome
err2017-06-01
err109
errOAAI
errDel Bel, Kate L.; Ragotte, Robert J.; Saferali, Aabida; Lee, Susan; Vercauteren, Suzanne M.; Mostafavi, Sara A.; Schreiber, Richard A.; Prendiville, Julie S.; Phang, Min S.; Halparin, Jessica; Au, Nicholas; Dean, John M.; Priatel, John J.; Jewels, Emily; Junker, Anne K.; Rogers, Paul C.; Seear, Michael; McKinnon, Margaret L.; Turvey, Stuart E.
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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation
err2017-01-01
err84
errOAAI
errYan, Kezhi; Rousseau, Justine; Littlejohn, Rebecca Okashah; Kiss, Courtney; Lehman, Anna; Rosenfeld, Jill A.; Stumpel, Constance T. R.; Stegmann, Alexander P. A.; Robak, Laurie; Scaglia, Fernando; Thi Tuyet Mai Nguyen; Fu, He; Ajeawung, Norbert F.; Camurri, Maria Vittoria; Li, Lin; Gardham, Alice; Panis, Bianca; Almannai, Mohammed; Sacoto, Maria J. Guillen; Baskin, Berivan; Ruivenkamp, Claudia; Xia, Fan; Bi, Weimin; Cho, Megan T.; Potjer, Thomas P.; Santen, Gijs W. E.; Parker, Michael J.; Canham, Natalie; McKinnon, Margaret; Potocki, Lorraine; MacKenzie, Jennifer J.; Roeder, Elizabeth R.; Campeau, Philippe M.; Yang, Xiang-Jiao
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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
err2016-06-16
err135
errOAAI
errMirzaa, Ghayda; Timms, Andrew E.; Conti, Valerio; Boyle, Evan August; Girisha, Katta M.; Martin, Beth; Kircher, Martin; Olds, Carissa; Juusola, Jane; Collins, Sarah; Park, Kaylee; Carter, Melissa; Glass, Ian; Kroegeloh-Mann, Inge; Chitayat, David; Parikh, Aditi Shah; Bradshaw, Rachael; Torti, Erin; Braddock, Stephen; Burke, Leah; Ghedia, Sondhya; Stephan, Mark; Stewart, Fiona; Prasad, Chitra; Napier, Melanie; Saitta, Sulagna; Straussberg, Rachel; Gabbett, Michael; O'Connor, Bridget C.; Keegan, Catherine E.; Yin, Lim Jiin; Lai, Angeline Hwei Meeng; Martin, Nicole; McKinnon, Margaret; Addor, Marie-Claude; Boccuto, Luigi; Schwartz, Charles E.; Lanoel, Agustina; Conway, Robert L.; Devriendt, Koenraad; Tatton-Brown, Katrina; Pierpont, Mary Ella; Painter, Michael; Worgan, Lisa; Reggin, James; Hennekam, Raoul; Tsuchiya, Karen; Pritchard, Colin C.; Aracena, Mariana; Gripp, Karen W.; Cordisco, Maria; Van Esch, Hilde; Garavelli, Livia; Curry, Cynthia; Goriely, Anne; Kayserilli, Hulya; Shendure, Jay; Graham, John, Jr.; Guerrini, Renzo; Dobyns, William B.
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Exome Sequencing and the Management of Neurometabolic Disorders
err2016-06-09
err228
errOAAI
errTarailo-Graovac, M.; Shyr, C.; Ross, C. J.; Horvath, G. A.; Salvarinova, R.; Ye, X. C.; Zhang, L-H; Bhavsar, A. P.; Lee, J. J. Y.; Droegemoeller, B. I.; Abdelsayed, M.; Alfadhel, M.; Armstrong, L.; Baumgartner, M. R.; Burda, P.; Connolly, M. B.; Cameron, J.; Demos, M.; Dewan, T.; Dionne, J.; Evans, A. M.; Friedman, J. M.; Garber, I.; Lewis, S.; Ling, J.; Mandal, R.; Mattman, A.; McKinnon, M.; Michoulas, A.; Metzger, D.; Ogunbayo, O. A.; Rakic, B.; Rozmus, J.; Ruben, P.; Sayson, B.; Santra, S.; Schultz, K. R.; Selby, K.; Shekel, P.; Sirrs, S.; Skrypnyk, C.; Superti-Furga, A.; Turvey, S. E.; Van Allen, M. I.; Wishart, D.; Wu, J.; Wu, J.; Zafeiriou, D.; Kluijtmans, L.; Wevers, R. A.; Eydoux, P.; Lehman, A. M.; Vallance, H.; Stockler-Ipsiroglu, S.; Sinclair, G.; Wasserman, W. W.; van Karnebeek, C. D.
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
err2016-04-12
err82
errOAAI
errSzafranski, Przemyslaw; Gambin, Tomasz; Dharmadhikari, Avinash V.; Akdemir, Kadir Caner; Jhangiani, Shalini N.; Schuette, Jennifer; Godiwala, Nihal; Yatsenko, Svetlana A.; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Surti, Urvashi; Abellar, Rosanna G.; Bateman, David A.; Wilson, Ashley L.; Markham, Melinda H.; Slamon, Jill; Santos-Simarro, Fernando; Palomares, Maria; Nevado, Julian; Lapunzina, Pablo; Chung, Brian Hon-Yin; Wong, Wai-Lap; Chu, Yoyo Wing Yiu; Mok, Gary Tsz Kin; Kerem, Eitan; Reiter, Joel; Ambalavanan, Namasivayam; Anderson, Scott A.; Kelly, David R.; Shieh, Joseph; Rosenthal, Taryn C.; Scheible, Kristin; Steiner, Laurie; Iqbal, M. Anwar; McKinnon, Margaret L.; Hamilton, Sara Jane; Schlade-Bartusiak, Kamilla; English, Dawn; Hendson, Glenda; Roeder, Elizabeth R.; DeNapoli, Thomas S.; Littlejohn, Rebecca Okashah; Wolff, Daynna J.; Wagner, Carol L.; Yeung, Alison; Francis, David; Fiorino, Elizabeth K.; Edelman, Morris; Fox, Joyce; Hayes, Denise A.; Janssens, Sandra; De Baere, Elfride; Menten, Bjorn; Loccufier, Anne; Vanwalleghem, Lieve; Moerman, Philippe; Sznajer, Yves; Lay, Amy S.; Kussmann, Jennifer L.; Chawla, Jasneek; Payton, Diane J.; Phillips, Gael E.; Brosens, Erwin; Tibboel, Dick; de Klein, Annelies; Maystadt, Isabelle; Fisher, Richard; Sebire, Neil; Male, Alison; Chopra, Maya; Pinner, Jason; Malcolm, Girvan; Peters, Gregory; Arbuckle, Susan; Lees, Melissa; Mead, Zoe; Quarrell, Oliver; Sayers, Richard; Owens, Martina; Shaw-Smith, Charles; Lioy, Janet; Mckay, Eileen; de Leeuw, Nicole; Feenstra, Ilse; Spruijt, Liesbeth; Elmslie, Frances; Thiruchelvam, Timothy; Bacino, Carlos A.; Langston, Claire; Lupski, James R.; Sen, Partha; Popek, Edwina; Stankiewicz, Pawel
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Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
err2016-01-12
err70
errOAAI
errCohen, Ana S. A.; Yap, Damian B.; Lewis, M. E. Suzanne; Chijiwa, Chieko; Ramos-Arroyo, Maria A.; Tkachenko, Natalia; Milano, Valentina; Fradin, Melanie; McKinnon, Margaret L.; Townsend, Katelin N.; Xu, Jieqing; Van Allen, M. I.; Ross, Colin J. D.; Dobyns, William B.; Weaver, David D.; Gibson, William T.
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Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
err2016-01-08
err140
errOAAI
errBrodehl, Andreas; Ferrier, Raechel A.; Hamilton, Sara J.; Greenway, Steven C.; Brundler, Marie-Anne; Yu, Weiming; Gibson, William T.; McKinnon, Margaret L.; McGillivray, Barbara; Alvarez, Nanette; Giuffre, Michael; Schwartzentruber, Jeremy; Gerull, Brenda
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The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency
err2014-08-01
err114
errOAAI
errTurvey, Stuart E.; Durandy, Anne; Fischer, Alain; Fung, Shan-Yu; Geha, Raif S.; Gewies, Andreas; Giese, Thomas; Greil, Johann; Keller, Baerbel; McKinnon, Margaret L.; Neven, Benedicte; Rozmus, Jacob; Ruland, Juegen; Snow, Andrew L.; Stepensky, Polina; Warnatz, Klaus
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Combined immunodeficiency associated with homozygous MALT1 mutations
err2014-05-01
err99
errOAAI
errMcKinnon, Margaret L.; Rozmus, Jacob; Fung, Shan-Yu; Hirschfeld, Aaron F.; Del Bel, Kate L.; Thomas, Leah; Marr, Nico; Martin, Spencer D.; Marwaha, Ashish K.; Priatel, John J.; Tan, Rusung; Senger, Christof; Tsang, Angela; Prendiville, Julie; Junker, Anne K.; Seear, Michael; Schultz, Kirk R.; Sly, Laura M.; Holt, Robert A.; Patel, Millan S.; Friedman, Jan M.; Turvey, Stuart E.
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Genetic variants of Tgfb1 act as context-dependent modifiers of mouse skin tumor susceptibility
err2006-05-23
err44
errOAAI
errMao, Jian-Hua; Saunier, Elise F.; de Koning, John P.; McKinnon, Margaret M.; Higgins, Mamie Nakijama; Nicklas, Kathy; Yang, Hai-Tao; Balmain, Allan; Akhurst, Rosemary J.
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Epistatic interactions between modifier genes confer strain-specific redundancy for Tgfb1 in developmental angiogenesis
err2005-01-01
err25
PREAI
errTanga, Y; Lee, KS; Yang, H; Logan, DW; Wang, S; McKinnon, ML; Holt, LJ; Condie, A; Luu, MT; Akhurst, RJ
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Base transitions dominate the mutational spectrum of a transgenic reporter gene in MSH2 deficient mice
err1997-07-10
err59
PREAI
errAndrew, SE; Reitmair, AH; Fox, J; Hsiao, L; Francis, A; McKinnon, M; Mak, TW; Jirik, FR
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