R
Roberto Mendoza-Londono
Researcher at University of Toronto
Publications - 99
Citations - 5761
Roberto Mendoza-Londono is an academic researcher from University of Toronto. The author has contributed to research in topics: Exome sequencing & Gene. The author has an hindex of 32, co-authored 84 publications receiving 4361 citations. Previous affiliations of Roberto Mendoza-Londono include Pontifical Xavierian University & Hospital for Sick Children.
Papers
More filters
Journal ArticleDOI
The 2017 international classification of the Ehlers-Danlos syndromes
Fransiska Malfait,Clair A. Francomano,Peter H. Byers,John W. Belmont,Britta Berglund,James H. Black,Lara Bloom,Jessica M Bowen,Angela F. Brady,Nigel Burrows,Marco Castori,Helen Cohen,Marina Colombi,Serwet Demirdas,Julie De Backer,Anne De Paepe,Sylvie Fournel-Gigleux,Michael Frank,Neeti Ghali,Cecilia Giunta,Rodney Grahame,Alan Hakim,Xavier Jeunemaitre,Diana Johnson,Birgit Juul-Kristensen,Ines Kapferer-Seebacher,Hanadi Kazkaz,Tomoki Kosho,Mark E. Lavallee,Howard P. Levy,Roberto Mendoza-Londono,Melanie Pepin,F. Michael Pope,Eyal Reinstein,Leema Robert,Marianne Rohrbach,Lynn Sanders,Glenda Sobey,Tim Van Damme,Anthony Vandersteen,Caroline van Mourik,Nicol C. Voermans,Nigel Wheeldon,Johannes Zschocke,Brad T. Tinkle +44 more
TL;DR: The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes, and revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders.
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
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
Lorraine Potocki,Weimin Bi,Diane Treadwell-Deering,Claudia M.B. Carvalho,Anna Eifert,Anna Eifert,Ellen M. Friedman,Ellen M. Friedman,Daniel G. Glaze,Daniel G. Glaze,Kevin R. Krull,Kevin R. Krull,Jennifer A. Lee,Richard A. Lewis,Roberto Mendoza-Londono,Patricia Robbins-Furman,Chad A. Shaw,Xin Shi,George Weissenberger,Marjorie Withers,Svetlana A. Yatsenko,Elaine H. Zackai,Pawel Stankiewicz,James R. Lupski,James R. Lupski +24 more
TL;DR: The critical region for Potocki-Lupski syndrome is refined to a 1.3-Mb genomic interval that contains the dosage-sensitive RAI1 gene and lends further support for the concept that genomic architecture incites genomic instability.
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
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Dimitri J. Stavropoulos,Daniele Merico,Rebekah Jobling,Sarah Bowdin,Nasim Monfared,Bhooma Thiruvahindrapuram,Thomas Nalpathamkalam,Giovanna Pellecchia,Ryan K. C. Yuen,Michael J. Szego,Michael J. Szego,Robin Z. Hayeems,Randi Zlotnik Shaul,Michael Brudno,Marta Girdea,Brendan J. Frey,Babak Alipanahi,Sohnee Ahmed,Riyana Babul-Hirji,Ramses Badilla Porras,Melissa T. Carter,Lauren Chad,Ayeshah Chaudhry,David Chitayat,David Chitayat,Soghra Jougheh Doust,Cheryl Cytrynbaum,Lucie Dupuis,Resham Ejaz,Leona Fishman,Andrea Guerin,Bita Hashemi,Mayada Helal,Stacy Hewson,Michal Inbar-Feigenberg,Peter Kannu,Natalya Karp,Raymond H. Kim,Jonathan B. Kronick,Eriskay Liston,Heather MacDonald,Saadet Mercimek-Mahmutoglu,Roberto Mendoza-Londono,Enas Nasr,Graeme A. M. Nimmo,Nicole Parkinson,Nada Quercia,Julian Raiman,Maian Roifman,Andreas Schulze,Andrea Shugar,Cheryl Shuman,Pierre Sinajon,Komudi Siriwardena,Rosanna Weksberg,Grace Yoon,Chris Carew,Raith Erickson,Richard A. Leach,Robert Klein,Peter N. Ray,M. Stephen Meyn,Stephen W. Scherer,Ronald D. Cohn,Christian R. Marshall +64 more
TL;DR: Clinical implementation of WGS as a primary test will provide a higher diagnostic yield than conventional genetic testing and potentially reduce the time required to reach a genetic diagnosis.