M
Margaret L. McKinnon
Researcher at University of British Columbia
Publications - 23
Citations - 1395
Margaret L. McKinnon is an academic researcher from University of British Columbia. The author has contributed to research in topics: Exome sequencing & Gene. The author has an hindex of 16, co-authored 21 publications receiving 1091 citations. Previous affiliations of Margaret L. McKinnon include Family Research Institute.
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Journal ArticleDOI
Exome Sequencing and the Management of Neurometabolic Disorders
Maja Tarailo-Graovac,Maja Tarailo-Graovac,Casper Shyr,Colin J. D. Ross,Gabriella Horvath,Gabriella Horvath,Ramona Salvarinova,Xin C. Ye,Xin C. Ye,Lin Hua Zhang,Amit P. Bhavsar,Jessica J. Y. Lee,Jessica J. Y. Lee,Britt I. Drögemöller,Britt I. Drögemöller,Mena Abdelsayed,Majid Alfadhel,Linlea Armstrong,Matthias R. Baumgartner,Patricie Burda,Mary B. Connolly,Jessie M. Cameron,Michelle Demos,Tammie Dewan,Janis M. Dionne,A. Mark Evans,Jan M. Friedman,Ian Garber,Ian Garber,Suzanne M E Lewis,Jiqiang Ling,Rupasri Mandal,Andre Mattman,Margaret L. McKinnon,Aspasia Michoulas,Daniel Metzger,Oluseye A. Ogunbayo,Bojana Rakic,Jacob Rozmus,Peter C. Ruben,Bryan Sayson,Saikat Santra,Kirk R. Schultz,Kathryn Selby,Paul Shekel,Sandra Sirrs,Cristina Skrypnyk,Andrea Superti-Furga,Stuart E. Turvey,Margot I. Van Allen,David S. Wishart,Jiang Wu,John K. Wu,Dimitrios I. Zafeiriou,Leo A. J. Kluijtmans,Ron A. Wevers,Patrice Eydoux,Anna Lehman,Hilary Vallance,Sylvia Stockler-Ipsiroglu,Sylvia Stockler-Ipsiroglu,Graham Sinclair,Wyeth W. Wasserman,Wyeth W. Wasserman,Clara D.M. van Karnebeek,Clara D.M. van Karnebeek +65 more
TL;DR: Deep phenotyping and whole-exome sequencing in 41 probands with intellectual developmental disorder and unexplained metabolic abnormalities led to a diagnosis in 68%, the identification of 11 candidate genes newly implicated in neurometabolic disease, and a change in treatment beyond genetic counseling in 44%.
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Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
Andreas Brodehl,Raechel A. Ferrier,Sara Jane Hamilton,Steven C. Greenway,Steven C. Greenway,Marie-Anne Brundler,Marie-Anne Brundler,Weiming Yu,William T. Gibson,William T. Gibson,Margaret L. McKinnon,Barbara McGillivray,Nanette Alvarez,Michael Giuffre,Jeremy Schwartzentruber,Brenda Gerull,Brenda Gerull +16 more
TL;DR: FLNC is a disease gene for autosomal‐dominant RCM and broadens the phenotype spectrum of filaminopathies.
Journal ArticleDOI
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
Ghayda M. Mirzaa,Andrew E. Timms,Valerio Conti,Evan A. Boyle,Katta M. Girisha,Beth Martin,Martin Kircher,Carissa Olds,Jane Juusola,Sarah Collins,Kaylee Park,Melissa T. Carter,Ian A. Glass,Inge Krägeloh-Mann,David Chitayat,Aditi Shah Parikh,Rachael Bradshaw,Erin Torti,Stephen R. Braddock,Leah W. Burke,Sondhya Ghedia,Mark J. Stephan,Fiona Stewart,Chitra Prasad,Melanie Napier,Sulagna C. Saitta,Rachel Straussberg,Michael T. Gabbett,Bridget C. O’Connor,Catherine E. Keegan,Lim Jiin Yin,Angeline Hwei Meeng Lai,Nicole Martin,Margaret L. McKinnon,Marie-Claude Addor,Luigi Boccuto,Charles E. Schwartz,Agustina Lanoel,Robert L. Conway,Koenraad Devriendt,Katrina Tatton-Brown,Mary Ella M Pierpont,Michael Painter,Lisa Worgan,James D. Reggin,James D. Reggin,Raoul C.M. Hennekam,Karen D. Tsuchiya,Colin C. Pritchard,Mariana Aracena,Karen W. Gripp,Maria R. Cordisco,Hilde Van Esch,Livia Garavelli,Cynthia J. Curry,Anne Goriely,Hulya Kayserilli,Jay Shendure,Jay Shendure,John Graham,Renzo Guerrini,William B. Dobyns +61 more
TL;DR: The molecular data, combined with review of the literature, show that PIK3CA-related overgrowth disorders comprise a discontinuous spectrum of disorders that correlate with the severity and distribution of mutations.
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The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.
Stuart E. Turvey,Anne Durandy,Alain Fischer,Alain Fischer,Shan-Yu Fung,Raif S. Geha,Andreas Gewies,Thomas Giese,Johann Greil,Bärbel Keller,Margaret L. McKinnon,Bénédicte Neven,Jacob Rozmus,Jürgen Ruland,Andrew L. Snow,Polina Stepensky,Klaus Warnatz +16 more
TL;DR: Germline mutations affecting the CBM complex are now recognized as the cause of novel combined immunodeficiency phenotypes, which all share abnormal nuclear factor κB activation and dysregulated B-cell development as defining features.
Journal ArticleDOI
Combined immunodeficiency associated with homozygous MALT1 mutations
Margaret L. McKinnon,Jacob Rozmus,Shan-Yu Fung,Aaron F. Hirschfeld,Kate L. Del Bel,Leah T Thomas,Nico Marr,Spencer D. Martin,Ashish Marwaha,John J. Priatel,Rusung Tan,Christof Senger,Angela Tsang,Julie S. Prendiville,Anne K. Junker,Michael Seear,Kirk R. Schultz,Laura M. Sly,Robert A. Holt,Millan S. Patel,Jan M. Friedman,Stuart E. Turvey +21 more