Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Rachel Buchan"'
Autor:
Ravi J. Amin, Deborah Morris-Rosendahl, Mat Edwards, Upasana Tayal, Rachel Buchan, Daniel J. Hammersley, Richard E. Jones, Sabiha Gati, Zohya Khalique, Batool Almogheer, Dudley J. Pennell, Arun John Baksi, Antonis Pantazis, James S. Ware, Sanjay K. Prasad, Brian P. Halliday
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
BackgroundGuidelines recommend genetic testing and cardiovascular magnetic resonance (CMR) for the investigation of dilated cardiomyopathy (DCM). However, the incremental value is unclear. We assessed the impact of these investigations in determining
Externí odkaz:
https://doaj.org/article/83451483d5b64dff9239d02b24896315
Autor:
Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Nicholas Li, Leanne Felkin, Nathan Ingold, Risha Govind, Mian Ahmad, Erica Mazaika, Mona Allouba, Xiaolei Zhang, Antonio de Marvao, Sharlene M. Day, Euan Ashley, Steven D. Colan, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Carolyn Y. Ho, Kate L. Thomson, Hugh Watkins, Paul J. R. Barton, Iacopo Olivotto, Stuart A. Cook, James S. Ware
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-18 (2019)
Abstract Background International guidelines for variant interpretation in Mendelian disease set stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive rate over test sensitivity and diagnostic yield. Ge
Externí odkaz:
https://doaj.org/article/dff8a2d61caa43d29ddbbb7e3f495ffe
Autor:
Heba Sh. Kassem, Roddy Walsh, Paul J. Barton, Besra S. Abdelghany, Remon S. Azer, Rachel Buchan, Shibu John, Ahmed Elguindy, Sarah Moharem-ElGamal, Hala M. Badran, Hoda Shehata, Stuart A. Cook, Magdi H. Yacoub
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 18, Iss 4, Pp 381-387 (2017)
Background: NGS enables simultaneous sequencing of large numbers of associated genes in genetic heterogeneous disorders, in a more rapid and cost-effective manner than traditional technologies. However there have been limited direct comparisons betwe
Externí odkaz:
https://doaj.org/article/0c6f1fead1724d898d4dc8c69c82896f
Autor:
Rachel Buchan, Catherine Francis, Sean Jurgens, Pantazis I. Theotokis, Antonio De Marvao, Lara Curran
Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality, with rare pathogenic variants found in about a third of cases (sarcomere-positive). Large-scale genome-wide association studies (GWAS) demonstrate that common genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d88dacbcb554248b0bccb32b044b9192
https://doi.org/10.1101/2023.03.14.23286621
https://doi.org/10.1101/2023.03.14.23286621
Autor:
Amrit S. Lota, Mark R. Hazebroek, Pantazis Theotokis, Rebecca Wassall, Sara Salmi, Brian P. Halliday, Upasana Tayal, Job Verdonschot, Devendra Meena, Ruth Owen, Antonio de Marvao, Alma Iacob, Momina Yazdani, Daniel J. Hammersley, Richard E. Jones, Riccardo Wage, Rachel Buchan, Fredrik Vivian, Yakeen Hafouda, Michela Noseda, John Gregson, Tarun Mittal, Joyce Wong, Jan Lukas Robertus, A. John Baksi, Vassilios Vassiliou, Ioanna Tzoulaki, Antonis Pantazis, John G.F. Cleland, Paul J.R. Barton, Stuart A. Cook, Dudley J. Pennell, Pablo Garcia-Pavia, Leslie T. Cooper, Stephane Heymans, James S. Ware, Sanjay K. Prasad
Publikováno v:
Circulation, 146(15), 1123-1134. LIPPINCOTT WILLIAMS & WILKINS
Acute myocarditis is an inflammatory condition that may herald the onset of dilated cardiomyopathy (DCM) or arrhythmogenic cardiomyopathy (ACM). We investigated the frequency and clinical consequences of DCM and ACM genetic variants in a population-b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2283f33a162888fbfecf2dc5ffea10
https://cris.maastrichtuniversity.nl/en/publications/3c0e8a73-0861-4b64-825c-8cefd6dd2c19
https://cris.maastrichtuniversity.nl/en/publications/3c0e8a73-0861-4b64-825c-8cefd6dd2c19
Autor:
Mona Allouba, Roddy Walsh, Alaa Afify, Mohammed Hosny, Sarah Halawa, Aya Galal, Mariam Fathy, Pantazis I. Theotokis, Ahmed Boraey, Amany Ellithy, Rachel Buchan, Risha Govind, Nicola Whiffin, Shehab Anwer, Ahmed ElGuindy, James S. Ware, Paul J.R. Barton, Yasmine Aguib, Magdi Yacoub
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition characterized by phenotypic heterogeneity that could partly be explained by the variability in genetic variants contributing to disease. Accurate interpretation of these variants con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::287302526ccfc44d1afee2f64b8b518b
https://doi.org/10.1101/2022.10.09.22280408
https://doi.org/10.1101/2022.10.09.22280408
Autor:
Ravi J. Amin, Deborah Morris-Rosendahl, Mat Edwards, Upasana Tayal, Rachel Buchan, Daniel J. Hammersley, Richard E. Jones, Sabiha Gati, Zohya Khalique, Batool Almogheer, Dudley J. Pennell, Arun John Baksi, Antonis Pantazis, James S. Ware, Sanjay K. Prasad, Brian P. Halliday
BackgroundGuidelines recommend genetic testing and cardiovascular magnetic resonance (CMR) for the investigation of dilated cardiomyopathy (DCM). However, the incremental value is unclear. We assessed the impact of these investigations in determining
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d40fc4c1905cda66c3d62643c29c7dba
http://hdl.handle.net/10044/1/100103
http://hdl.handle.net/10044/1/100103
Autor:
Inga Voges, Amrit Lota, Resham Baruah, Paul J.R. Barton, James S. Ware, John Gregson, Sanjay K Prasad, Nicola Whiffin, Brian P Halliday, Julian W.E. Jarman, Dudley J. Pennell, Angharad M. Roberts, Michael P. Frenneaux, A. John Baksi, Rachel Buchan, Upasana Tayal, Stuart A. Cook, John G.F. Cleland
Publikováno v:
Heart. 108:619-625
ObjectiveThe effect of moderate excess alcohol consumption is widely debated and has not been well defined in dilated cardiomyopathy (DCM). There is need for a greater evidence base to help advise patients. We sought to evaluate the effect of moderat
New Variant with a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy
Autor:
Ahmed A. Moustafa, Ayman M. Ibrahim, Mohammed Hosny, Roddy Walsh, Nicola Whiffin, James S. Ware, Mohamed Roshdy, Ahmed ElGuindy, Amany Ellithy, Sara Elshorbagy, Pantazis I. Theotokis, Sarah Halawa, Aya Galal, Alaa Afify, Paul J.R. Barton, Mona Allouba, Yasmine Aguib, Stuart A. Cook, Magdi H. Yacoub, Heba Sh. Kassem, Shehab Anwer, Rachel Buchan
Publikováno v:
Circulation, 144(9), 754-757. Lippincott Williams and Wilkins
Circulation
Circulation
Autor:
Christine E. Seidman, Amanda C Garfinkel, Weng Khong Lim, Thu Thao Le, Antonio de Marvao, Risha Govind, Giuliana G. Repetti, Alexandre C. Pereira, Nicola Whiffin, Gabriela V. Silva, Cheng Xi Yang, James Yip, Charleston W. K. Chiang, Roddy Walsh, Roger Foo, Kallyandra Padilha, Jonathan G. Seidman, Hak Chiaw Tang, Jiashen Cai, Siew Ching Kong, Li Yang Loo, James S. Ware, Chee Jian Pua, Nevin Tham, Bangfen Pan, Paul J.R. Barton, Chiea Chuen Khor, Jing Xian Teo, Yasmin Bylstra, Saumya Shekhar Jamuar, Christopher S. Chen, Christopher N. Toepfer, Patrick Tan, An An Hii, Wan Xian Chan, Stuart A. Cook, Raymond Wong, Calvin W. L. Chin, Pei Min Lio, Paige Cloonan, Jourdan F. Ewoldt, Shi Qi Lim, Rachel Buchan
Publikováno v:
Circulation. Cardiovascular Genetics
Circulation. Genomic and precision medicine, vol 13, iss 5
Circulation: Genomic and Precision Medicine, 13, 424-434. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and precision medicine, vol 13, iss 5
Circulation: Genomic and Precision Medicine, 13, 424-434. Lippincott Williams and Wilkins Ltd.
Supplemental Digital Content is available in the text.
Background: To assess the genetic architecture of hypertrophic cardiomyopathy (HCM) in patients of predominantly Chinese ancestry. Methods: We sequenced HCM disease genes in Singaporean pati
Background: To assess the genetic architecture of hypertrophic cardiomyopathy (HCM) in patients of predominantly Chinese ancestry. Methods: We sequenced HCM disease genes in Singaporean pati