Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Lynn Bergin"'
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:
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:
Mohamad Rabbani, MD, CM, Ahmed Hafiz, MD, Muhanad Algadheeb, MD, Elena Tugaleva, MD, FRCPC, Margaret Lynn Bergin, MD, FRCPC, Lin-Rui Ray Guo, MD, FRCSC
Publikováno v:
CJC Open, Vol 2, Iss 6, Pp 711-715 (2020)
Pulmonary artery intimal sarcoma (PAIS) is a very rare tumour. The prevalence of PAIS is estimated to be between 0.001% and 0.003%, but this may be an underestimation because of potential misdiagnosis due to its similar presentation to that of pulmon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::aded74d27574eb5de6d345966af05c57
http://www.sciencedirect.com/science/article/pii/S2589790X20301037
http://www.sciencedirect.com/science/article/pii/S2589790X20301037
Autor:
Lin-Rui Ray Guo, Ahmed Hafiz, Mohamad Rabbani, Margaret Lynn Bergin, Muhanad Algadheeb, Elena Tugaleva
Publikováno v:
CJC Open
Pulmonary artery intimal sarcoma (PAIS) is a very rare tumour. The prevalence of PAIS is estimated to be between 0.001% and 0.003%, but this may be an underestimation because of potential misdiagnosis due to its similar presentation to that of pulmon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11e0e9474e48d604d36727bf4ed45fe8
https://doi.org/10.1016/j.cjco.2020.07.008
https://doi.org/10.1016/j.cjco.2020.07.008
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
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
Autor:
Carly Ogaki, Elaine Gordon, Herschel Rosenberg, David Chitayat, Lynn Bergin, Christine Dodge, Erwin Oechslin, Seema Mital, Mina Safi, Tanya Papaz, Jennifer Breaton Kyryliuk, Catherine Chant-Gambacort, Liz Burrill, Jane Lougheed, Tapas Mondal, Laura-Lee Walter, Ashok Kumar Manickaraj, John Smythe
Publikováno v:
Pediatrics. 130:e1198-e1205
BACKGROUND: Consenting minors for genetics research and biobanking involves ethical and social challenges. We examined factors influencing participation rates in a population-based biorepository for childhood heart disease. METHODS: Individuals were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50b00663625350054ffebd8651202597
https://doi.org/10.1542/peds.2012-0687
https://doi.org/10.1542/peds.2012-0687
Autor:
Nanette Alvarez, Elaine Gordon, Anne Williams, Philippe Chetaille, Candice K. Silversides, Catherine M. Kells, Lynn Bergin, Judith Therrien, Ariane Marelli, Marla Kiess, Dylan A. Taylor, Jeffrey Stein, James W. Tam, Paul Khairy, Andrew S. Mackie, Erwin Oechslin, Gary W. Burggraf, Luc M. Beauchesne, Lise-Andrée Mercier
Publikováno v:
International Journal of Cardiology. 157:70-74
Background There are more adults than children with congenital heart disease. Of over 96,000 ACHD patients in Canada, approximately 50% require ongoing expert care. In spite of published recommendations, data on the quality of care for ACHD patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e6dd164dd7aaf026431bebb530a34d
https://doi.org/10.1016/j.ijcard.2010.12.024
https://doi.org/10.1016/j.ijcard.2010.12.024
Autor:
Bhooma Thiruvahindrapuram, L. Altamirano Diaz, R. Yao, Stephen W. Scherer, M. Chaix, Elaine Gordon, Myriam Lafreniere-Roula, Seema Mital, Erwin Oechslin, Tapas Mondal, G.S. Van Arsdell, G. Tran, John Smythe, Jane Lougheed, W. Sung, Lynn Bergin, R. Van der Laan, C. Bezzina, Cedric Manlhiot, Oyediran Akinrinade
Publikováno v:
Canadian Journal of Cardiology. 34:S57
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa6df954d74cb3f7360fa6682d7f2768
https://doi.org/10.1016/j.cjca.2018.07.328
https://doi.org/10.1016/j.cjca.2018.07.328