Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Pantazis I. Theotokis"'
Autor:
Xiaolei Zhang, Pantazis I. Theotokis, Nicholas Li, the SHaRe Investigators, Caroline F. Wright, Kaitlin E. Samocha, Nicola Whiffin, James S. Ware
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background One of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in humans. Recent significant advances have leveraged natural variation observed in large-scale hum
Externí odkaz:
https://doaj.org/article/696f2ae58f374123a9cf5ed1249bfe43
Autor:
Pantazis I. Theotokis, Louise Usher, Christopher K. Kortschak, Ed Schwalbe, Sterghios A. Moschos
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 9, Iss C, Pp 22-33 (2017)
Low allelic and clonal variability among endogenous RNAi targets has focused mismatch tolerance studies to RNAi-active guide strands. However, the inherent genomic instability of RNA viruses such as hepatitis C virus (HCV) gives rise to quasi-species
Externí odkaz:
https://doaj.org/article/963667310f714f429a8e265d70e580ba
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:
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:
Daniel Reichart, Eric L. Lindberg, Henrike Maatz, Antonio M. A. Miranda, Anissa Viveiros, Nikolay Shvetsov, Anna Gärtner, Emily R. Nadelmann, Michael Lee, Kazumasa Kanemaru, Jorge Ruiz-Orera, Viktoria Strohmenger, Daniel M. DeLaughter, Giannino Patone, Hao Zhang, Andrew Woehler, Christoph Lippert, Yuri Kim, Eleonora Adami, Joshua M. Gorham, Sam N. Barnett, Kemar Brown, Rachel J. Buchan, Rasheda A. Chowdhury, Chrystalla Constantinou, James Cranley, Leanne E. Felkin, Henrik Fox, Ahla Ghauri, Jan Gummert, Masatoshi Kanda, Ruoyan Li, Lukas Mach, Barbara McDonough, Sara Samari, Farnoush Shahriaran, Clarence Yapp, Caroline Stanasiuk, Pantazis I. Theotokis, Fabian J. Theis, Antoon van den Bogaerdt, Hiroko Wakimoto, James S. Ware, Catherine L. Worth, Paul J. R. Barton, Young-Ae Lee, Sarah A. Teichmann, Hendrik Milting, Michela Noseda, Gavin Y. Oudit, Matthias Heinig, Jonathan G. Seidman, Norbert Hubner, Christine E. Seidman
Publikováno v:
Science
Science 377:eabo1984 (2022)
Science 377:eabo1984 (2022)
INTRODUCTION Human heart failure is a highly morbid condition that affects 23 million individuals worldwide. It emerges in the setting of an array of different cardiovascular disorders, which has propelled the notion that diverse stimuli converge on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d33efde459df4c917ded22f9b8a36e70
https://pubmed.ncbi.nlm.nih.gov/35926050
https://pubmed.ncbi.nlm.nih.gov/35926050
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::269ee22d53c6bf5dea3e245aadd0d9fc
https://doi.org/10.1161/circulationaha.120.048295
https://doi.org/10.1161/circulationaha.120.048295
Autor:
Carlo Biffi, Marina Quinlan, Antonio de Marvao, Declan P. O'Regan, Francesco Mazzarotto, Antonis Pantazis, Daniel Rueckert, Marjola Thanaj, James S. Ware, Paul J.R. Barton, Kathryn A. McGurk, Brian P Halliday, Pawel Tokarczuk, Nicola Whiffin, Roddy Walsh, Mikyung Jang, Timothy J W Dawes, Jinming Duan, Catherine Francis, A. John Baksi, Carolyn Y. Ho, Upasana Tayal, Sanjay K Prasad, Ben Statton, Sean L. Zheng, Stuart A. Cook, Pantazis I. Theotokis, Xiao Xu, Nicoló Savioli, Alaine Berry, Wenjia Bai, Rachel Buchan, Xiaolei Zhang
Publikováno v:
Journal of the American College of Cardiology, 78(11), 1097-1110. Elsevier USA
Background: Hypertrophic cardiomyopathy (HCM) is caused by rare variants in sarcomere-encoding genes, but little is known about the clinical significance of these variants in the general population. Objectives: The goal of this study was to compare l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6fa696cfb6bb9d920e8de49f63da308
https://pure.amc.nl/en/publications/phenotypic-expression-and-outcomes-in-individuals-with-rare-genetic-variants-of-hypertrophic-cardiomyopathy(6af7fbb2-87d0-4612-938b-7c885feffbaa).html
https://pure.amc.nl/en/publications/phenotypic-expression-and-outcomes-in-individuals-with-rare-genetic-variants-of-hypertrophic-cardiomyopathy(6af7fbb2-87d0-4612-938b-7c885feffbaa).html
Autor:
de Marvao A, Daniel Rueckert, Alaine Berry, Nicoló Savioli, Carlo Biffi, Declan P. O'Regan, Marina Quinlan, Roddy Walsh, Carolyn Y. Ho, S Prasad, Jang M, Francesco Mazzarotto, Nicola Whiffin, Upasana Tayal, Pantazis I. Theotokis, Pawel Tokarczuk, Kathryn A. McGurk, S A Cook, Timothy J W Dawes, James S. Ware, Brian P Halliday, Antonis Pantazis, Benjamin Statton, Marjola Thanaj, Jinming Duan, Catherine Francis, Sean L. Zheng, Paul J.R. Barton, Xiaolei Zhang, Wenjia Bai, Baksi Aj, Xiao Xu, Rachel Buchan
BackgroundHypertrophic cardiomyopathy (HCM) is caused by rare variants in sarcomere-encoding genes, but little is known about the clinical significance of these variants in the general population.MethodsWe compared outcomes and cardiovascular phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::064f3713df70e3f14349cc12aee36232
https://doi.org/10.1101/2021.01.21.21249470
https://doi.org/10.1101/2021.01.21.21249470
Autor:
Omnia Kamel, Eslam Abdelrahman, Risha Govind, Nagwa Thabet, Hadir Khedr, Heba Aguib, Ahmed Kharabish, Amr El Sawy, Nairouz Shehata, Shehab Anwer, Mohamed El-Khatib, Ahmed ElGuindy, Mohamed ElMaghawry, Marina Sous, Roddy Walsh, Paul J.R. Barton, Magdi H. Yacoub, Nicola Whiffin, Declan P. O'Regan, James S. Ware, Aya Galal, Alaa Afify, Sarah Halawa, Pantazis I. Theotokis, Rachel Buchan, Mona Allouba, Yasmine Aguib, Wesam El Mozy, Stuart A. Cook
Publikováno v:
npj Genomic Medicine, 5(1):46. Nature Publishing Group
NPJ Genomic Medicine
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-8 (2020)
NPJ Genomic Medicine
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-8 (2020)
The integration of comprehensive genomic and phenotypic data from diverse ethnic populations offers unprecedented opportunities toward advancements in precision medicine and novel diagnostic technologies. Current reference genomic databases are not r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62dafafd7cd01c4fb21337b60e8b9bff
http://hdl.handle.net/10044/1/82801
http://hdl.handle.net/10044/1/82801
Autor:
Carolyn Y. Ho, Declan P. O'Regan, Michelle Michels, Magdi H. Yacoub, William Midwinter, Roddy Walsh, Mian Ahmad, Francesco Mazzarotto, Antonio de Marvao, Euan A. Ashley, Risha Govind, Alexandre C. Pereira, John L. Jefferies, Jodie Ingles, Alicja Wilk, Nicola Whiffin, Xiaolei Zhang, Leonardo Bottolo, Nicholas Li, James S. Ware, Angharad M. Roberts, Christopher Semsarian, Iacopo Olivotto, Paul J.R. Barton, Pantazis I. Theotokis, Daniel Jacoby, Mona Allouba, Yasmine Aguib, Stuart A. Cook, Steven D. Colan, Sharlene M. Day, Chee Jian Pua, Erica Mazaika, Rachel Buchan, Gunnar Gunnarsson
Publikováno v:
Genetics in Medicine, 23(1), 69-79. Lippincott Williams & Wilkins
Genetics in Medicine
Genetics in Medicine
BackgroundAccurate discrimination of benign and pathogenic rare variation remains a priority for clinical genome interpretation. State-of-the-art machine learning tools are useful for genome-wide variant prioritisation but remain imprecise. Since the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bff7b0dc43fff7b520391ea4dbbab260
https://doi.org/10.1101/2020.03.27.010736
https://doi.org/10.1101/2020.03.27.010736