Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Roderick, Yao"'
Autor:
Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R. Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, Guoliang Meng, Michelle Chan Seng Yue, Wilson W. L. Sung, Bhooma Thiruvahindrapuram, Jane Lougheed, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John Smythe, Shashank Jayappa, Vinay J. Rao, Jayaprakash Shenthar, Perundurai S. Dhandapany, Christopher Semsarian, Robert G. Weintraub, Richard D. Bagnall, Jodie Ingles, Genomics England Research Consortium, Marta Melé, Philipp G. Maass, James Ellis, Stephen W. Scherer, Seema Mital
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-17 (2022)
Abstract Cardiomyopathy (CMP) is a heritable disorder. Over 50% of cases are gene-elusive on clinical gene panel testing. The contribution of variants in non-coding DNA elements that result in cryptic splicing and regulate gene expression has not bee
Externí odkaz:
https://doaj.org/article/98efc3d1863c49afbe226a84a5eb5c6f
Autor:
Tanya Papaz, Eriskay Liston, Laura Zahavich, Dimitri J. Stavropoulos, Rebekah K. Jobling, Raymond H. Kim, Miriam Reuter, Anastasia Miron, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F. Smythe, Luis Altamirano-Diaz, Jane Lougheed, Roderick Yao, Oyediran Akinrinade, Jeroen Breckpot, Seema Mital
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-9 (2019)
Abstract Background Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants. Methods Participants were prospectively enrolled in a multicenter biorepository of childhood onset heart disea
Externí odkaz:
https://doaj.org/article/60384f376e53477d98d735977c10f3ad
Autor:
Marie A. Chaix, James Ellis, Cedric Manlhiot, Emily Lam, Paul C. Nathan, Neha Parmar, Anne Christie, Jane Lougheed, Paul F. Kantor, Guoliang Meng, Luc Mertens, Anastasia Miron, Leonard S. Sender, Stacey Marjerrison, Shayna Zelcer, Ashok Kumar Manickaraj, David C. Hodgson, Rejane Dillenburg, Seema Mital, Oyediran Akinrinade, Herschel Rosenberg, Roderick Yao, Caroline Kinnear, Myriam Lafreniere-Roula, Mylene Bassal
Publikováno v:
Paediatrics Publications
JACC: CardioOncology
JACC: CardioOncology
Background Despite known clinical risk factors, predicting anthracycline cardiotoxicity remains challenging. Objectives This study sought to develop a clinical and genetic risk prediction model for anthracycline cardiotoxicity in childhood cancer sur
Autor:
Robert, Lesurf, Abdelrahman, Said, Oyediran, Akinrinade, Jeroen, Breckpot, Kathleen, Delfosse, Ting, Liu, Roderick, Yao, Gabrielle, Persad, Fintan, McKenna, Ramil R, Noche, Winona, Oliveros, Kaia, Mattioli, Shreya, Shah, Anastasia, Miron, Qian, Yang, Guoliang, Meng, Michelle Chan Seng, Yue, Wilson W L, Sung, Bhooma, Thiruvahindrapuram, Jane, Lougheed, Erwin, Oechslin, Tapas, Mondal, Lynn, Bergin, John, Smythe, Shashank, Jayappa, Vinay J, Rao, Jayaprakash, Shenthar, Perundurai S, Dhandapany, Christopher, Semsarian, Robert G, Weintraub, Richard D, Bagnall, Jodie, Ingles, Marta, Melé, Philipp G, Maass, James, Ellis, Stephen W, Scherer, M, Zarowiecki
Publikováno v:
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Universitat Politècnica de Catalunya (UPC)
Cardiomyopathy (CMP) is a heritable disorder. Over 50% of cases are gene-elusive on clinical gene panel testing. The contribution of variants in non-coding DNA elements that result in cryptic splicing and regulate gene expression has not been explore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06c17280981c333134a3fa06d7ec9729
https://hdl.handle.net/2117/364726
https://hdl.handle.net/2117/364726
Autor:
Jane Lougheed, Paul F. Kantor, Marie A. Chaix, Rejane Dillenburg, Myriam Lafreniere-Roula, Cedric Manlhiot, Leonard S. Sender, Stacey Marjerrison, Guoliang Meng, Roderick Yao, Ashok Kumar Manickaraj, Anne Christie, Seema Mital, Paul C. Nathan, Shayna Zelcer, Luc Mertens, Mylene Bassal, Neha Parmar, David R. W. Hodgson, James Ellis, Emily Lam, Peter Liu, Oyediran Akinrinade, Herschel Rosenberg, Anastasia Miron
Publikováno v:
Circulation. 142
Background: Despite known clinical and genetic risk factors, predicting anthracycline cardiotoxicity remains challenging. Objective: To develop a risk prediction model for anthracycline cardiotoxicity in childhood cancer survivors. Methods: We perfor
Autor:
Kaia Mattioli, Lynn Bergin, Bhooma Thiruvahindrapuram, Wilson W L Sung, Anastasia Miron, Jane Lougheed, Ramil R. Noche, Philipp G. Maass, Tapas Mondal, Winona Oliveros, Oyediran Akinrinade, Fintan McKenna, Marta Melé, Stephen W. Scherer, Robert Lesurf, Seema Mital, Jeroen Breckpot, John Smythe, Qian Yang, Abdelrahman Said, Roderick Yao, Ting Liu, Michelle Chan Seng Yue, Erwin Oechslin, James Ellis, Guoliang Meng, Kathleen Delfosse
Cardiomyopathy (CMP) is a heritable genetic disorder. Protein-coding variants account for 20-30% of cases. The contribution of variants in non-coding DNA elements that regulate gene expression has not been explored. We performed whole-genome sequenci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0fd5cb2752010b37f4762a165334393
https://doi.org/10.1101/2020.10.12.20211474
https://doi.org/10.1101/2020.10.12.20211474
Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy
Autor:
David Chiasson, Jade Bouwmeester, Seema Mital, Caroline Kinnear, Lisa C.A. D'Alessandro, Roderick Yao, Sandar Min, Fred W. Keeley
Publikováno v:
Circulation. Genomic and Precision Medicine
Supplemental Digital Content is available in the text.
Background: Elastin insufficiency causes recurrent vascular stenoses. Hemizygous deletion of the elastin gene (ELN) causes Williams-Beuren syndrome (WBS), while single nucleotide variants in
Background: Elastin insufficiency causes recurrent vascular stenoses. Hemizygous deletion of the elastin gene (ELN) causes Williams-Beuren syndrome (WBS), while single nucleotide variants in
Autor:
Oyediran Akinrinade, Eriskay Liston, Seema Mital, Dimitri J. Stavropoulos, Raymond H. Kim, Jeroen Breckpot, Rebekah Jobling, Anastasia Miron, Laura Zahavich, Jane Lougheed, Lynn Bergin, Erwin Oechslin, Tapas Mondal, Tanya Papaz, Luis Altamirano-Diaz, John Smythe, Miriam S. Reuter, Roderick Yao
Publikováno v:
Paediatrics Publications
BMC Medical Genomics
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-9 (2019)
BMC Medical Genomics
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-9 (2019)
BackgroundAssess process, uptake, validity and resource needs for return of actionable research findings to biobank participants.MethodsParticipants were prospectively enrolled in a multicenter biorepository of childhood onset heart disease. Clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a24511f8f0b58646270523c947f8226
https://ir.lib.uwo.ca/paedpub/605
https://ir.lib.uwo.ca/paedpub/605
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-10 (2020)
BMC Medical Genomics
BMC Medical Genomics
Background Whole-genome sequencing (WGS) is becoming an increasingly important tool for detecting genomic variation. Blood derived DNA is the current standard for WGS for research or clinical purposes but may not always be feasible to acquire. The us
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baae5ef2b9805461329872f146da6dd4
https://doi.org/10.1101/532564
https://doi.org/10.1101/532564
Publikováno v:
Circulation: Genomic and Precision Medicine. 11