A
Amanda C. Smith
Researcher at Children's Hospital of Eastern Ontario
Publications - 28
Citations - 1309
Amanda C. Smith is an academic researcher from Children's Hospital of Eastern Ontario. The author has contributed to research in topics: Exome sequencing & Exon. The author has an hindex of 17, co-authored 28 publications receiving 1122 citations. Previous affiliations of Amanda C. Smith include Ottawa Hospital Research Institute & University of Ottawa.
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Journal ArticleDOI
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sara L. Sawyer,Taila Hartley,David A. Dyment,Chandree L. Beaulieu,Jeremy Schwartzentruber,Amanda C. Smith,H M Bedford,Geneviève Bernard,Francois P. Bernier,Bernard Brais,Dennis E. Bulman,J. Warman Chardon,David Chitayat,Johnny Deladoëy,Bridget A. Fernandez,Patrick Frosk,Michael T. Geraghty,Brenda Gerull,William T. Gibson,Robert M. Gow,Gail E. Graham,Jane Green,Elise Héon,Gabriella Horvath,A.M. Innes,Nada Jabado,Raymond H. Kim,Robert K. Koenekoop,Aneal Khan,Ordan J. Lehmann,Roberto Mendoza-Londono,Jacques L. Michaud,Sarah M. Nikkel,L S Penney,Constantin Polychronakos,Julie Richer,Guy A. Rouleau,Mark E. Samuels,Victoria Mok Siu,Oksana Suchowersky,Mark A. Tarnopolsky,Grace Yoon,Farah R. Zahir,Jacek Majewski,Kym M. Boycott +44 more
TL;DR: The analysis of this dataset showed that these known disease genes were not identified prior to WES enrollment for two key reasons: genetic heterogeneity associated with a clinical diagnosis and atypical presentation of known, clinically recognized diseases.
Journal ArticleDOI
Mutations in PIK3R1 Cause SHORT Syndrome
David A. Dyment,Amanda C. Smith,Diana Alcantara,Jeremy Schwartzentruber,Lina Basel-Vanagaite,Cynthia J. Curry,I. Karen Temple,I. Karen Temple,William Reardon,Sahar Mansour,Mushfequr R. Haq,Rodney D. Gilbert,Ordan J. Lehmann,Megan R. Vanstone,Chandree L. Beaulieu,Jacek Majewski,Dennis E. Bulman,Mark O'Driscoll,Kym M. Boycott,A. Micheil Innes,A. Micheil Innes +20 more
TL;DR: The findings show that PIK3R1 mutations are the major cause of SHORT syndrome and suggest that the molecular mechanism of disease might involve downregulation of the PI3K-AKT-mTOR pathway.
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Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
Janneke H M Schuurs-Hoeijmakers,Michael T. Geraghty,Erik-Jan Kamsteeg,Salma Ben-Salem,Susanne T. de Bot,Susanne T. de Bot,Bonnie Nijhof,Bonnie Nijhof,Ilse I.G.M. van de Vondervoort,Marinette van der Graaf,Anna Castells Nobau,Anna Castells Nobau,Irene Otte-Höller,Sascha Vermeer,Amanda C. Smith,Peter Humphreys,Jeremy Schwartzentruber,Bassam R. Ali,Saeed Al-Yahyaee,Said Tariq,Thachillath Pramathan,Riad Bayoumi,Hubertus P. H. Kremer,Bart P.C. van de Warrenburg,Bart P.C. van de Warrenburg,Willem M.R. van den Akker,Christian Gilissen,Joris A. Veltman,Irene M. Janssen,Anneke T. Vulto-van Silfhout,Anneke T. Vulto-van Silfhout,Saskia D. van der Velde-Visser,Dirk J. Lefeber,Adinda Diekstra,Corrie E. Erasmus,Michèl A.A.P. Willemsen,Michèl A.A.P. Willemsen,Lisenka E.L.M. Vissers,Martin Lammens,Hans van Bokhoven,Hans van Bokhoven,Han G. Brunner,Ron A. Wevers,Annette Schenck,Annette Schenck,Lihadh Al-Gazali,Bert B.A. de Vries,Bert B.A. de Vries,Arjan P.M. de Brouwer +48 more
TL;DR: It is shown that mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA(1) family to human neurologic disease.
Journal ArticleDOI
Screen for genes differentially expressed during regeneration of the zebrafish caudal fin.
Bhaja K. Padhi,Lucille Joly,Patricia A. Tellis,Amanda C. Smith,Puru Nanjappa,Mario Chevrette,Mario Chevrette,Marc Ekker,Marie-Andrée Akimenko +8 more
TL;DR: A systematic study to identify genes that are up‐regulated during “initiation” and “outgrowth and differentiation” of fin regeneration by using two complementary methods, suppression subtraction hybridization (SSH) and differential display reverse transcriptase polymerase chain reaction (DDRT‐PCR).
Journal ArticleDOI
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
Tugce B. Balci,Taila Hartley,Yanwei Xi,Yanwei Xi,David A. Dyment,Chandree L. Beaulieu,Francois P. Bernier,Lucie Dupuis,Gabriella Horvath,Roberto Mendoza-Londono,Chitra Prasad,Julie Richer,X.-R. Yang,Christine M. Armour,Eric Bareke,Bridget A. Fernandez,Hugh J. McMillan,Ryan E. Lamont,Jacek Majewski,J.S. Parboosingh,Asuri N. Prasad,C. A. Rupar,Jeremy Schwartzentruber,Amanda C. Smith,Martine Tétreault,A.M. Innes,Kym M. Boycott +26 more
TL;DR: The frequency of multiple genetic diagnoses in families is largely unknown and the use of whole exome sequencing to identify these diagnoses is still largely unknown.