R
Raveen K. Basran
Researcher at University of Toronto
Publications - 21
Citations - 1014
Raveen K. Basran is an academic researcher from University of Toronto. The author has contributed to research in topics: Compound heterozygosity & Exome sequencing. The author has an hindex of 13, co-authored 21 publications receiving 747 citations. Previous affiliations of Raveen K. Basran include Boston University & Hospital for Sick Children.
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Journal ArticleDOI
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C. Lionel,Gregory Costain,Nasim Monfared,Susan Walker,Miriam S. Reuter,S. Mohsen Hosseini,Bhooma Thiruvahindrapuram,Daniele Merico,Rebekah Jobling,Thomas Nalpathamkalam,Giovanna Pellecchia,Wilson W L Sung,Zhuozhi Wang,Peter Bikangaga,Cyrus Boelman,Melissa T. Carter,Dawn Cordeiro,Cheryl Cytrynbaum,Sharon D. Dell,Priya Dhir,James J. Dowling,Elise Heon,Stacy Hewson,Linda T. Hiraki,Michal Inbar-Feigenberg,Regan Klatt,Regan Klatt,Jonathan B. Kronick,Ronald M. Laxer,Christoph Licht,Heather MacDonald,Heather MacDonald,Saadet Mercimek-Andrews,Roberto Mendoza-Londono,Tino D. Piscione,Rayfel Schneider,Andreas Schulze,Earl D. Silverman,Komudi Siriwardena,O. Carter Snead,Neal Sondheimer,Joanne Sutherland,Ajoy Vincent,Jonathan D. Wasserman,Rosanna Weksberg,Cheryl Shuman,Chris Carew,Michael J. Szego,Robin Z. Hayeems,Raveen K. Basran,Dimitri J. Stavropoulos,Peter N. Ray,Sarah Bowdin,M. Stephen Meyn,Ronald D. Cohn,Stephen W. Scherer,Christian R. Marshall +56 more
TL;DR: WGS as a primary clinical test provided a higher diagnostic yield than conventional genetic testing in a clinically heterogeneous cohort and confirmed recent disease associations with the genes PIGG, RNU4ATAC, TRIO, and UNC13A.
Journal ArticleDOI
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
Darci T. Butcher,Cheryl Cytrynbaum,Andrei L. Turinsky,Michelle T. Siu,Michal Inbar-Feigenberg,Roberto Mendoza-Londono,David Chitayat,Susan Walker,Jerry Machado,Oana Caluseriu,Lucie Dupuis,Daria Grafodatskaya,William Reardon,Brigitte Gilbert-Dussardier,Alain Verloes,Frédéric Bilan,Jeff M. Milunsky,Raveen K. Basran,Blake C. Papsin,Tracy Stockley,Stephen W. Scherer,Sanaa Choufani,Michael Brudno,Rosanna Weksberg +23 more
TL;DR: Analysis of the DNAm targets in each gene-specific signature identified both common gene targets, including homeobox A5 (HOXA5), which could account for some of the clinical overlap in CHARGE and Kabuki syndromes, as well as distinct gene targets.
Journal ArticleDOI
RNAseq analysis for the diagnosis of muscular dystrophy.
Hernan Gonorazky,Minggao Liang,Beryl B. Cummings,Beryl B. Cummings,Monkol Lek,Monkol Lek,Johann Micallef,Cynthia Hawkins,Raveen K. Basran,Ronald D. Cohn,Michael D. Wilson,Daniel G. MacArthur,Daniel G. MacArthur,Christian R. Marshall,Peter N. Ray,James J. Dowling +15 more
TL;DR: A deep intronic mutation in the DMD gene is identified in a patient with muscular dystrophy using both conventional and RNAseq‐based transcriptome analyses, indicating that noncoding mutations likely comprise an important source of unresolved genetic disease and that RNAseq is a powerful platform for detecting such mutations.
Journal ArticleDOI
A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?
Yuriy O. Alekseyev,Roghayeh Fazeli,Shi Yang,Raveen K. Basran,Thomas A. Maher,Nancy S. Miller,Daniel G. Remick +6 more
TL;DR: A primer to provide a foundation about basic next-generation sequencing methods and applications, as well as specific examples where it has had diagnostic and prognostic utility in oncology are provided.
Journal ArticleDOI
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
TL;DR: Three unrelated females with de novo mutations within the protocadherin 19 (PCDH19) gene highlight the importance of testing PCDH19 in females with early onset epilepsy, intellectual impairment, and autistic features, regardless of family history.