Zobrazeno 1 - 10
of 22
pro vyhledávání: '"James S. Ware"'
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
Autor:
Antonio de Marvao, Francesca Girolami, Antonis Pantazis, Francesco Mazzarotto, A. John Baksi, James S. Ware, Kathryn A. McGurk, Iacopo Olivotto, Megan H. Hawley, Angharad M. Roberts, Sanjay K Prasad, Roddy Walsh, Elisabetta Cerbai, Paul J.R. Barton, Beatrice Boschi, Ben Statton, Soha Romeih, Leander Beekman, Elisabeth M. Lodder, Declan P. O'Regan, Matteo Beltrami, Connie R. Bezzina, Magdi H. Yacoub, Birgit Funke, Mona Allouba, Yasmine Aguib, Stuart A. Cook
Publikováno v:
Genetics in Medicine
Genetics in medicine, 23(5), 856-864. Lippincott Williams and Wilkins
Genetics in medicine, 23(5), 856-864. Lippincott Williams and Wilkins
Purpose: To characterize the genetic architecture of left ventricular noncompaction (LVNC) and investigate the extent to which it may represent a distinct pathology or a secondary phenotype associated with other cardiac diseases. Methods: We performe
Autor:
Julia Platt, Megan H. Hawley, Gabi Richard, K Thomson, Hana Zouk, James S. Ware, Wendy K. Chung, Hui Mei, Roddy Walsh, Birgit Funke, Ashley Ryan, Matthew S. Lebo, Melissa A. Kelly, Naif A.M. Almontashiri, John Garcia, Daniela Macaya, Leslie G. Biesecker, Matteo Vatta, Matthew T. Wheeler, Heather Mason-Suares, Theresa A. Grebe, Natalie Berger
Publikováno v:
Hum Mutat
Human mutation, 41(9), 1577-1587. Wiley-Liss Inc.
Human mutation, 41(9), 1577-1587. Wiley-Liss Inc.
The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants exhibit a wide spectrum of penetrance, accurately assessing and expressing the pathogenici
Autor:
A. Callaway, George J Burghel, Chey Loveday, James S. Ware, Alice Garrett, Subin Choi, Helen Hanson, J. Drummond, Ian R. Berry, CanVIG-UK, Diana Eccles, C. Cubuk, Marc Tischkowitz, Rachel Robinson, Bethany Torr, Andrew J Wallace, Clare Turnbull, Nicola Whiffin, Laura King, Miranda Durkie
Publikováno v:
Genetics in Medicine
Purpose: Where multiple in silico tools are concordant, the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) framework affords supporting evidence toward pathogenicity or benignity, equivalent to a like
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745ba63b55955b680c32e96af8906564
Autor:
Stephanie Allen, James S. Ware, Glen R. Kirkham, Thomas Upton, Kevin M. Shakesheff, Lee D.K. Buttery
Publikováno v:
Regenerative Engineering and Translational Medicine
Three-dimensional (3D) cell models that mimic the structure and function of native tissues are enabling more detailed study of physiological and pathological mechanisms in vitro. We have previously demonstrated the ability to build and manipulate 3D
Autor:
Antonio de Marvao, Roddy Walsh, Jean-Claude Tardif, R. Thomas Lumbers, Eric Villard, Rafik Tadros, Peter Lichtner, Catherine Francis, Julie Amyot, Michelle Michels, Hugh Watkins, Julia Cadrin-Tourigny, Najim Lahrouchi, Rudolf A. de Boer, Patrick Garceau, Karin J. H. Verweij, Paul M. Matthews, Paul Elliott, S. Matthijs Boekholdt, Folkert W. Asselbergs, Declan P. O'Regan, Benjamin Meder, Joost A. Offerhaus, Nicola Whiffin, Jacco C. Karper, Jason D. Roberts, Marie-Pierre Dubé, Hideaki Suzuki, James S. Ware, Yigal M. Pinto, Thomas Meitinger, Guillaume Lettre, Hannah G. van Velzen, Arthur A.M. Wilde, Marjon van Slegtenhorst, Francesco Mazzarotto, Wouter P. te Rijdt, Paul J.R. Barton, Sanjay K Prasad, A. John Baksi, Michael W.T. Tanck, Mario Talajic, Roy Huurman, J. Peter van Tintelen, Connie R. Bezzina, Antonis Pantazis, Robert A. Hegele, Jentien M Vermeulen, Rachel Buchan, Imke Christiaans, Jan H. Veldink, Edgar T. Hoorntje, Elham Kayvanpour, Pascale Richard, Geneviève Giraldeau, Flavie Ader, Andrew Thain, Philippe L. L’Allier, Xiao Xu, Leander Beekman, David McCarty, Alexa M.C. Vermeer, Geraldine Sloane, Wenjia Bai, Andrew R. Harper, Jolanda van der Velden, Stuart A. Cook, Ken Kelu Bisabu, Philippe Charron, Deborah Schneider-Luftman
Publikováno v:
Nature genetics, 53(2), 128-134. Nature Publishing Group
Nature genetics
Tadros, R, Francis, C, Xu, X, Vermeer, A M C, Harper, A R, Huurman, R, Kelu Bisabu, K, Walsh, R, Hoorntje, E T, te Rijdt, W P, Buchan, R J, van Velzen, H G, van Slegtenhorst, M A, Vermeulen, J M, Offerhaus, J A, Bai, W, de Marvao, A, Lahrouchi, N, Beekman, L, Karper, J C, Veldink, J H, Kayvanpour, E, Pantazis, A, Baksi, A J, Whiffin, N, Mazzarotto, F, Sloane, G, Suzuki, H, Schneider-Luftman, D, Elliott, P, Richard, P, Ader, F, Villard, E, Lichtner, P, Meitinger, T, Tanck, M W T, van Tintelen, J P, Thain, A, McCarty, D, Hegele, R A, Roberts, J D, Amyot, J, Dubé, M-P, Cadrin-Tourigny, J, Giraldeau, G, l’Allier, P L, Garceau, P, Tardif, J-C, Boekholdt, S M, Lumbers, R T, Asselbergs, F W, Barton, P J R, Cook, S A, Prasad, S K, O’Regan, D P, van der Velden, J, Verweij, K J H, Talajic, M, Lettre, G, Pinto, Y M, Meder, B, Charron, P, de Boer, R A, Christiaans, I, Michels, M, Wilde, A A M, Watkins, H, Matthews, P M, Ware, J S & Bezzina, C R 2021, ' Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect ', Nature Genetics, vol. 53, no. 2, pp. 128-134 . https://doi.org/10.1038/s41588-020-00762-2
Nature Genetics, 53(2), 128-134. Nature Publishing Group
Nature genetics
Tadros, R, Francis, C, Xu, X, Vermeer, A M C, Harper, A R, Huurman, R, Kelu Bisabu, K, Walsh, R, Hoorntje, E T, te Rijdt, W P, Buchan, R J, van Velzen, H G, van Slegtenhorst, M A, Vermeulen, J M, Offerhaus, J A, Bai, W, de Marvao, A, Lahrouchi, N, Beekman, L, Karper, J C, Veldink, J H, Kayvanpour, E, Pantazis, A, Baksi, A J, Whiffin, N, Mazzarotto, F, Sloane, G, Suzuki, H, Schneider-Luftman, D, Elliott, P, Richard, P, Ader, F, Villard, E, Lichtner, P, Meitinger, T, Tanck, M W T, van Tintelen, J P, Thain, A, McCarty, D, Hegele, R A, Roberts, J D, Amyot, J, Dubé, M-P, Cadrin-Tourigny, J, Giraldeau, G, l’Allier, P L, Garceau, P, Tardif, J-C, Boekholdt, S M, Lumbers, R T, Asselbergs, F W, Barton, P J R, Cook, S A, Prasad, S K, O’Regan, D P, van der Velden, J, Verweij, K J H, Talajic, M, Lettre, G, Pinto, Y M, Meder, B, Charron, P, de Boer, R A, Christiaans, I, Michels, M, Wilde, A A M, Watkins, H, Matthews, P M, Ware, J S & Bezzina, C R 2021, ' Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect ', Nature Genetics, vol. 53, no. 2, pp. 128-134 . https://doi.org/10.1038/s41588-020-00762-2
Nature Genetics, 53(2), 128-134. Nature Publishing Group
The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are leading causes of sudden death and heart failure in young, otherwise healthy, individuals. We conducted genome-wide association studies and multi-trait analyses in HC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf7d23d192dff67828c4afc329009e0f
https://ora.ox.ac.uk/objects/uuid:c3ba02f5-a29f-4145-a8b8-d3e86d5db3f0
https://ora.ox.ac.uk/objects/uuid:c3ba02f5-a29f-4145-a8b8-d3e86d5db3f0
Autor:
Carolyn Y. Ho, Sara Saberi, Francesco Mazzarotto, Samuel G. Wittekind, Euan A. Ashley, Sharlene M. Day, James S. Ware, Alexandre C. Pereira, Anamika Kannan, Michelle Michels, Iacopo Olivotto, Jaime Yob, Adam S. Helms, Andrea D. Thompson, Neal K. Lakdawala, Christopher Semsarian, Daniel Jacoby, Steven D. Colan, Jodie Ingles
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 23(7), 1281-1287. Lippincott Williams & Wilkins
Genetics in Medicine, 23(7), 1281-1287. Lippincott Williams & Wilkins
PurposeVariants inMYBPC3causing loss-of-function are the most common cause of HCM. However, a substantial number of patients carry missense variants of uncertain significance (VUS) inMYBPC3.We hypothesize that a structural-based algorithm, STRUM, whi
Autor:
Charles Antzelevitch, Ahmad S. Amin, Bo Gregers Winkel, Dan M. Roden, Stefan Kääb, Jonathan R. Skinner, Seiko Ohno, Julien Barc, Birgit Stallmeyer, Carla Giustetto, Connie R. Bezzina, Francesco Mazzarotto, Tomas Robyns, Carlo Napolitano, Stellan Mörner, Doris Škorić-Milosavljević, Sven Dittmann, Kenichiro Yamagata, Sonia Van Dooren, Anniek Corveleyn, Carlo de Asmundis, Ramon Brugada, K Usuda, Yuji Tanaka, Sven Zumhagen, Tadashi Nakajima, Johan Saenen, Elijah R. Behr, Hector Barajas-Martinez, Stéphane Bézieau, Masao Yoshinaga, Georgia Sarquella-Brugada, Paul G.A. Volders, Juan R. Gimeno, Lia Crotti, Charlotte Glinge, Andrea Mazzanti, Ingrid P.C. Krapels, Nicola Whiffin, Sebastian Clauss, Yoshiaki Kaneko, James S. Ware, Minoru Horie, Keiko Shimamoto, Isabelle Denjoy, Pieter G. Postema, Christian Krijger, Takeshi Aiba, Masahiko Kurabayashi, Pyotr G. Platonov, Regina Sebastiano, Cristina Gil Ortuño, Annika Rydberg, Roddy Walsh, Michael J. Ackerman, Hideki Itoh, M. Benjamin Shoemaker, Can Hasdemir, Pascale Guicheney, J. Martijn Bos, Frederic Sacher, Takeru Makiyama, Julieta Lazarte, Maarten P. van den Berg, Dominique Babuty, David J. Tester, Silvia Castelletti, Jacques Mansourati, Antoine Leenhardt, Paul A. van der Zwaag, Sanjay Sharma, Elena Arbelo, Candan Celen, Pier D. Lambiase, Maria Christina Kotta, Johannes Steinfurt, Jean-Baptiste Gourraud, Pedro Brugada, Wataru Shimizu, Josep Brugada, Jørgen K. Kanters, Eline A. Nannenberg, Silvia G. Priori, Mary N. Sheppard, Richard Redon, Morten S. Olesen, Jeroen Breckpot, Britt M. Beckmann, Naomasa Makita, Martin Borggrefe, Rafik Tadros, Jean-Jacques Schott, Jacob Tfelt-Hansen, Steven A. Lubitz, Hatice Şahin, Najim Lahrouchi, Michael Papadakis, Daisuke Hazeki, Kenshi Hayashi, Oscar Campuzano, Katja E. Odening, Federica Dagradi, Eric Schulze-Bahr, Boris Rudic, Hiroki Kimoto, Vincent Probst, Jason D. Roberts, Raphaël P. Martins, Bart Loeys, Daniela F. Giachino, F. Kyndt, Kimie Ohkubo, Taisuke Ishikawa, Catarina Lundin, Lut Van Laer, Patrick T. Ellinor, Maria Sabater Molina, Peter J. Schwartz, Annika Winbo
Publikováno v:
Nantes Referral Center for inherited cardiac arrhythmia 2021, ' Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls ', Genetics In Medicine, vol. 23, pp. 47–58 . https://doi.org/10.1038/s41436-020-00946-5
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, ⟨10.1038/s41436-020-⟩
Genetics in Medicine, 47-58. Nature Publishing Group
ISSUE=1;STARTPAGE=47;ENDPAGE=58;ISSN=1098-3600;TITLE=Genetics in Medicine
Genetics in medicine
Walsh, Roddy; Lahrouchi, Najim; Tadros, Rafik; Kyndt, Florence; Glinge, Charlotte; Postema, Pieter G; Amin, Ahmad S; Nannenberg, Eline A; Ware, James S; Whiffin, Nicola; Mazzarotto, Francesco; Škorić-Milosavljević, Doris; Krijger, Christian; Arbelo, Elena; Babuty, Dominique; Barajas-Martinez, Hector; Beckmann, Britt M; Bézieau, Stéphane; Bos, J Martijn; Breckpot, Jeroen; ... (2021). Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genetics in medicine, 23(1), pp. 47-58. Springer Nature 10.1038/s41436-020-00946-5
Genetics in medicine, 23(1), 47-58. Lippincott Williams and Wilkins
Genetics in Medicine, 23(1), 47-58. Nature Publishing Group
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, ⟨10.1038/s41436-020-⟩
Genetics in Medicine, 47-58. Nature Publishing Group
ISSUE=1;STARTPAGE=47;ENDPAGE=58;ISSN=1098-3600;TITLE=Genetics in Medicine
Genetics in medicine
Walsh, Roddy; Lahrouchi, Najim; Tadros, Rafik; Kyndt, Florence; Glinge, Charlotte; Postema, Pieter G; Amin, Ahmad S; Nannenberg, Eline A; Ware, James S; Whiffin, Nicola; Mazzarotto, Francesco; Škorić-Milosavljević, Doris; Krijger, Christian; Arbelo, Elena; Babuty, Dominique; Barajas-Martinez, Hector; Beckmann, Britt M; Bézieau, Stéphane; Bos, J Martijn; Breckpot, Jeroen; ... (2021). Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genetics in medicine, 23(1), pp. 47-58. Springer Nature 10.1038/s41436-020-00946-5
Genetics in medicine, 23(1), 47-58. Lippincott Williams and Wilkins
Genetics in Medicine, 23(1), 47-58. Nature Publishing Group
Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::193437f5ba4e2e30da09bd570e67f778
http://hdl.handle.net/10044/1/82315
http://hdl.handle.net/10044/1/82315
Autor:
Daniel Rueckert, Paul M. Matthews, James S. Ware, Ewan Birney, Wenjia Bai, Albert Henry, Sanjay K Prasad, Jakob Gierten, Thomas Thumberger, Maria Laura Costantino, Stuart A. Cook, Marta Serrani, Pawel Tokarczuk, Declan P. O'Regan, Hannah Meyer, Joachim Wittbrodt, Timothy J W Dawes, Antonio de Marvao, R. Thomas Lumbers, Jiashen Cai
Publikováno v:
Nature
The inner surfaces of the human heart are covered by a complex network of muscular strands that is thought to be a remnant of embryonic development1,2. The function of these trabeculae in adults and their genetic architecture are unknown. Here we per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22237bfba89a5d81fa41f7fe5e28a8cd
http://hdl.handle.net/10044/1/80636
http://hdl.handle.net/10044/1/80636
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