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Nasim Monfared
Researcher at University of Toronto
Publications - 14
Citations - 1064
Nasim Monfared is an academic researcher from University of Toronto. The author has contributed to research in topics: Whole genome sequencing & Genetic testing. The author has an hindex of 9, co-authored 14 publications receiving 796 citations. Previous affiliations of Nasim Monfared include Hospital for Sick Children & Drexel University.
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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
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.
Journal ArticleDOI
Recommendations for the integration of genomics into clinical practice.
Sarah Bowdin,Adel Gilbert,Emma Bedoukian,Christopher Carew,Margaret P. Adam,John W. Belmont,Barbara A. Bernhardt,Leslie G. Biesecker,Hans T. Bjornsson,Miriam G. Blitzer,Lisa C.A. D'Alessandro,Matthew A. Deardorff,Laurie A. Demmer,Alison M. Elliott,Gerald L. Feldman,Ian A. Glass,Gail E. Herman,Lucia A. Hindorff,Fuki M. Hisama,Louanne Hudgins,A. Micheil Innes,Laird G. Jackson,Gail P. Jarvik,Raymond H. Kim,Bruce R. Korf,David H. Ledbetter,Mindy H. Li,Eriskay Liston,Christian R. Marshall,Livija Medne,Livija Medne,M. Stephen Meyn,M. Stephen Meyn,Nasim Monfared,Cynthia C. Morton,John J. Mulvihill,Sharon E. Plon,Heidi L. Rehm,Amy E. Roberts,Cheryl Shuman,Cheryl Shuman,Nancy B. Spinner,D James Stavropoulos,Kathleen Valverde,Darrel Waggoner,Alisha Wilkens,Ronald D. Cohn,Ronald D. Cohn,Ian D. Krantz +48 more
TL;DR: Recommendations are provided that will guide the integration of genomics into clinical practice and address the evolving role of the clinical geneticist in the rapidly changing climate of genomic medicine.
Journal ArticleDOI
Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?
James A Anderson,James A Anderson,James A Anderson,MStephen Meyn,MStephen Meyn,Cheryl Shuman,R. Zlotnik Shaul,L E Mantella,L E Mantella,Michael J. Szego,Sarah Bowdin,Sarah Bowdin,Nasim Monfared,Robin Z. Hayeems +13 more
TL;DR: Not all parents of children undergoing WGS view the best interests of their child in relational terms, thereby challenging an underlying justification for current ACMG guidelines for reporting incidental secondary findings from whole exome and WGS.
Journal ArticleDOI
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
Miriam S. Reuter,Susan Walker,Bhooma Thiruvahindrapuram,Joe Whitney,Iris Cohn,Neal Sondheimer,Ryan K. C. Yuen,Brett Trost,Tara Paton,Sergio L. Pereira,Jo Anne Herbrick,Richard F. Wintle,Daniele Merico,Jennifer L. Howe,Jeffrey R. MacDonald,Chao Lu,Thomas Nalpathamkalam,Wilson W L Sung,Zhuozhi Wang,Rohan V. Patel,Giovanna Pellecchia,John Wei,Lisa J. Strug,Sherilyn L. Bell,Barbara Kellam,Melanie M. Mahtani,Anne S. Bassett,Yvonne Bombard,Rosanna Weksberg,Cheryl Shuman,Ronald D. Cohn,Dimitri J. Stavropoulos,Sarah Bowdin,Matthew R. Hildebrandt,Wei Wei,Asli Romm,Peter Pasceri,James Ellis,Peter N. Ray,M. Stephen Meyn,Nasim Monfared,S. Mohsen Hosseini,Ann M. Joseph-George,Fred W. Keeley,Ryan A. Cook,Marc Fiume,Hin C. Lee,Christian R. Marshall,Jill Davies,Allison Hazell,Janet A. Buchanan,Michael J. Szego,Stephen W. Scherer +52 more
TL;DR: Genomic variation identified in the initial recruitment cohort of 56 volunteers is described and a spectrum of genetic variants with potential health impact in 25% of participants are identified.