J
Janet A. Buchanan
Researcher at The Centre for Applied Genomics
Publications - 21
Citations - 5640
Janet A. Buchanan is an academic researcher from The Centre for Applied Genomics. The author has contributed to research in topics: Copy-number variation & Genome. The author has an hindex of 15, co-authored 21 publications receiving 5216 citations. Previous affiliations of Janet A. Buchanan include University of Toronto.
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Journal ArticleDOI
Identification of the cystic fibrosis gene: genetic analysis.
Batsheva Kerem,Johanna M. Rommens,Janet A. Buchanan,Danuta Markiewicz,Tara K. Cox,Aravinda Chakravarti,Manuel Buchwald,Lap-Chee Tsui +7 more
TL;DR: Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations.
Journal ArticleDOI
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Ryan K. C. Yuen,Daniele Merico,Matt Bookman,Jennifer L. Howe,Bhooma Thiruvahindrapuram,Rohan V. Patel,Joe Whitney,Nicole A. Deflaux,Jonathan Bingham,Zhuozhi Wang,Giovanna Pellecchia,Janet A. Buchanan,Susan Walker,Christian R. Marshall,Mohammed Uddin,Mehdi Zarrei,Eric Deneault,Lia D’Abate,Lia D’Abate,Ada J.S. Chan,Ada J.S. Chan,Stephanie Koyanagi,Tara Paton,Sergio L. Pereira,Ny Hoang,Worrawat Engchuan,Edward J Higginbotham,Karen Ho,Sylvia Lamoureux,Weili Li,Jeffrey R. MacDonald,Thomas Nalpathamkalam,Wilson W L Sung,Fiona Tsoi,John Wei,Lizhen Xu,Anne Marie Tassé,Emily Kirby,William Van Etten,Simon N. Twigger,Wendy Roberts,Irene Drmic,Sanne Jilderda,Bonnie Mackinnon Modi,Barbara Kellam,Michael J. Szego,Michael J. Szego,Cheryl Cytrynbaum,Rosanna Weksberg,Lonnie Zwaigenbaum,Marc Woodbury-Smith,Marc Woodbury-Smith,Jessica Brian,Lili Senman,Alana Iaboni,Krissy A.R. Doyle-Thomas,Ann Thompson,Christina Chrysler,Jonathan Leef,Tal Savion-Lemieux,Isabel M. Smith,Xudong Liu,Rob Nicolson,Vicki Seifer,Angie Fedele,Edwin H. Cook,Stephen R. Dager,Annette Estes,Louise Gallagher,Beth A. Malow,Jeremy R. Parr,Sarah J. Spence,Jacob A. S. Vorstman,Brendan J. Frey,James T. Robinson,Lisa J. Strug,Lisa J. Strug,Bridget A. Fernandez,Mayada Elsabbagh,Melissa T. Carter,Joachim Hallmayer,Bartha Maria Knoppers,Evdokia Anagnostou,Peter Szatmari,Peter Szatmari,Robert H. Ring,David Glazer,Mathew T. Pletcher,Stephen W. Scherer,Stephen W. Scherer +89 more
TL;DR: Se sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal that identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability.
Journal ArticleDOI
Research ethics recommendations for whole-genome research: consensus statement.
Timothy Caulfield,Amy L. McGuire,Mildred K. Cho,Janet A. Buchanan,Michael M. Burgess,Ursula Danilczyk,Christina M. Diaz,Kelly Fryer-Edwards,Shane K. Green,Marc A. Hodosh,Eric T. Juengst,Jane Kaye,Laurence Kedes,Bartha Maria Knoppers,Trudo Lemmens,Trudo Lemmens,Eric M. Meslin,Juli Murphy,Robert L. Nussbaum,Margaret Otlowski,Daryl Pullman,Peter N. Ray,Jeremy Sugarman,Michael Timmons +23 more
TL;DR: The challenging ethics issues associated with whole-genome research have grown substantially over the past few months and are explored.
Journal ArticleDOI
Autism spectrum disorder: advances in evidence-based practice
Evdokia Anagnostou,Lonnie Zwaigenbaum,Peter Szatmari,Eric Fombonne,Bridget A. Fernandez,Marc Woodbury-Smith,Jessica Brian,Susan E. Bryson,Susan E. Bryson,Isabel M. Smith,Isabel M. Smith,Irene Drmic,Irene Drmic,Janet A. Buchanan,Wendy Roberts,Stephen W. Scherer +15 more
TL;DR: It is important to note that not all people with ASD identify their challenges as a disorder, so it is not necessary to diagnose them as having a specific disorder.
Journal Article
Mutations of the p53 gene do not occur in testis cancer.
Hongqi Peng,David Hogg,David Malkin,Denis Bailey,Brenda L. Gallie,Mohammed Bulbul,Michael A.S. Jewett,Janet A. Buchanan,Paul E. Goss +8 more
TL;DR: It is concluded that dysfunction of tumor suppressor gene or genes other than p53 may prove to play an important role in the development of germ cell cancers of the testis.