Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jude Craft"'
Autor:
Ryan M. Baxley, Wendy Leung, Megan M. Schmit, Jacob Peter Matson, Lulu Yin, Marissa K. Oram, Liangjun Wang, John Taylor, Jack Hedberg, Colette B. Rogers, Adam J. Harvey, Debashree Basu, Jenny C. Taylor, Alistair T. Pagnamenta, Helene Dreau, Jude Craft, Elizabeth Ormondroyd, Hugh Watkins, Eric A. Hendrickson, Emily M. Mace, Jordan S. Orange, Hideki Aihara, Grant S. Stewart, Edward Blair, Jeanette Gowen Cook, Anja-Katrin Bielinsky
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Minichromosome maintenance protein 10 (MCM10) is critical for eukaryotic DNA replication. Here, by modelling MCM10 variants in human cell lines, the authors reveal a mechanism of MCM10-associated disease, finding that loss of MCM10 function constrain
Externí odkaz:
https://doaj.org/article/fcda6dd35e9949f888622bfe0a813011
Autor:
John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H. Németh, Elizabeth Ormondroyd, Smita Y. Patel, Alistair T. Pagnamenta, Jenny C. Taylor, Kate L. Thomson, Hugh Watkins, Andrew O. M. Wilkie, Julian C. Knight
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-12 (2019)
Abstract Background A multi-disciplinary approach to promote engagement, inform decision-making and support clinicians and patients is increasingly advocated to realise the potential of genome-scale sequencing in the clinic for patient benefit. Here
Externí odkaz:
https://doaj.org/article/cdc63af88c78403ab16517dff6627483
Autor:
Adam J. Harvey, Lulu Yin, Jacob Peter Matson, Jack Hedberg, Debashree Basu, John Taylor, Megan Schmit, Liangjun Wang, Jenny C. Taylor, Elizabeth Ormondroyd, Jordan S. Orange, Hideki Aihara, Edward Blair, Colette B. Rogers, Eric A. Hendrickson, Jeanette Gowen Cook, Ryan M. Baxley, Emily M. Mace, Alistair T. Pagnamenta, Anja Katrin Bielinsky, Wendy Leung, Hugh Watkins, Helene Dreau, Jude Craft, Marissa K. Oram, Grant S. Stewart
Publikováno v:
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Minichromosome maintenance protein 10 (MCM10) is essential for eukaryotic DNA replication. Here, we describe compound heterozygous MCM10 variants in patients with distinctive, but overlapping, clinical phenotypes: natural killer (NK) cell deficiency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c892fb3cd5e6fd2562c7cef29c0b5672
https://doi.org/10.1038/s41467-021-21878-x
https://doi.org/10.1038/s41467-021-21878-x
Autor:
Lynn Quek, Anne Goriely, Ondrej Cais, Christopher Yau, Lars Fugger, John Broxholme, Niko Popitsch, David Beeson, Zoya Kingsbury, M. Andrew Nesbit, David J. Nutt, Christopher Holmes, Andrew J. Rimmer, Fredrik Karpe, John Taylor, Andrea H. Németh, Veronica J. Buckle, Rodney D. Gilbert, Natasha Sahgal, Sian E. Piret, Alistair T. Pagnamenta, Elizabeth Sweeney, Stefano Lise, Sarah Lamble, Moustafa Attar, Christian Babbs, Mary Frances McMullin, Adrian V. S. Hill, Ingo H. Greger, Per Soelberg Sørensen, Michael P. Whyte, Paolo Piazza, Lorna Witty, Lorne Lonie, Emma E. Davenport, Peter J. Ratcliffe, Peter Humburg, Simon J. McGowan, Holger Cario, Chris Allan, Usha Kini, Malcolm F. Howard, Alexandra Russo, Simon Fiddy, Fiona Powrie, Pauline A. van Schouwenburg, Jude Craft, Andrew O.M. Wilkie, Aimee L. Fenwick, Jennifer Becq, Elizabeth Ormondroyd, Nayia Petousi, Richard R. Copley, Joshua Luck, David Buck, Hilary C. Martin, Katherine R. Bull, Holm H. Uhlig, Russell J. Grocock, Timothy J. Vyse, Smita Y. Patel, Gerton Lunter, Sean Humphray, Helen Chapel, Peter Donnelly, Karin Dahan, Calliope A. Dendrou, Edward Blair, Peter A. Robbins, Davis J. McCarthy, Kerry A. Miller, Rajesh V. Thakker, A. Radu Aricescu, Gilean McVean, Alison Simmons, Annette Bang Oturai, Julian C. Knight, David W. Johnson, Craig B. Langman, Earl D. Silverman, Anja V. Gruszczyk, Olivier Devuyst, Jean-Baptiste Cazier, Paresh Vyas, John I. Bell, Kathryn J. H. Robson, Ian Tomlinson, Jenny C. Taylor, Amy Trebes, Anna Schuh, Linda Hughes, Stephen R.F. Twigg, Hugh Watkins, Celeste Bento, Melanie J. Percy, Robert W. Hastings, Jonathan Flint, Richard J. Cornall, Edouard Hatton, Doug Higgs, P Bignell, Guadalupe Polanco-Echeverry, Angie Green, Jon P. Krohn, Ben Wright, David Bentley, Christopher W. Pugh, Steven A. Wall, Lisa Murray, Alexander Kanapin
Publikováno v:
Nat Genet
Nature genetics
Taylor, J C, Martin, H C, Lise, S, Broxholme, J, Cazier, J-B, Rimmer, A, Kanapin, A, Lunter, G, Fiddy, S, Allan, C, Aricescu, A R, Attar, M, Babbs, C, Becq, J, Beeson, D, Bento, C, Bignell, P, Blair, E, Buckle, V J, Bull, K, Cais, O, Cario, H, Chapel, H, Copley, R R, Cornall, R, Craft, J, Dahan, K, Davenport, E E, Dendrou, C, Devuyst, O, Fenwick, A L, Flint, J, Fugger, L, Gilbert, R D, Goriely, A, Green, A, Greger, I H, Grocock, R, Gruszczyk, A V, Hastings, R, Hatton, E, Higgs, D, Hill, A, Holmes, C, Howard, M, Hughes, L, Humburg, P, Johnson, D, Karpe, F, Kingsbury, Z, Kini, U, Knight, J C, Krohn, J, Lamble, S, Langman, C, Lonie, L, Luck, J, McCarthy, D, McGowan, S J, McMullin, M F, Miller, K A, Murray, L, Németh, A H, Nesbit, M A, Nutt, D, Ormondroyd, E, Oturai, A B, Pagnamenta, A, Patel, S Y, Percy, M, Petousi, N, Piazza, P, Piret, S E, Polanco-Echeverry, G, Popitsch, N, Powrie, F, Pugh, C, Quek, L, Robbins, P A, Robson, K, Russo, A, Sahgal, N, van Schouwenburg, P A, Schuh, A, Silverman, E, Simmons, A, Sørensen, P S, Sweeney, E, Taylor, J, Thakker, R V, Tomlinson, I, Trebes, A, Twigg, S R F, Uhlig, H H, Vyas, P, Vyse, T, Wall, S A, Watkins, H, Whyte, M P, Witty, L, Wright, B, Yau, C, Buck, D, Humphray, S, Ratcliffe, P J, Bell, J I, Wilkie, A O M, Bentley, D, Donnelly, P & McVean, G 2015, ' Factors influencing success of clinical genome sequencing across a broad spectrum of disorders ', Nature Genetics, vol. 47, no. 7, pp. 717-26 . https://doi.org/10.1038/ng.3304
Nature genetics
Taylor, J C, Martin, H C, Lise, S, Broxholme, J, Cazier, J-B, Rimmer, A, Kanapin, A, Lunter, G, Fiddy, S, Allan, C, Aricescu, A R, Attar, M, Babbs, C, Becq, J, Beeson, D, Bento, C, Bignell, P, Blair, E, Buckle, V J, Bull, K, Cais, O, Cario, H, Chapel, H, Copley, R R, Cornall, R, Craft, J, Dahan, K, Davenport, E E, Dendrou, C, Devuyst, O, Fenwick, A L, Flint, J, Fugger, L, Gilbert, R D, Goriely, A, Green, A, Greger, I H, Grocock, R, Gruszczyk, A V, Hastings, R, Hatton, E, Higgs, D, Hill, A, Holmes, C, Howard, M, Hughes, L, Humburg, P, Johnson, D, Karpe, F, Kingsbury, Z, Kini, U, Knight, J C, Krohn, J, Lamble, S, Langman, C, Lonie, L, Luck, J, McCarthy, D, McGowan, S J, McMullin, M F, Miller, K A, Murray, L, Németh, A H, Nesbit, M A, Nutt, D, Ormondroyd, E, Oturai, A B, Pagnamenta, A, Patel, S Y, Percy, M, Petousi, N, Piazza, P, Piret, S E, Polanco-Echeverry, G, Popitsch, N, Powrie, F, Pugh, C, Quek, L, Robbins, P A, Robson, K, Russo, A, Sahgal, N, van Schouwenburg, P A, Schuh, A, Silverman, E, Simmons, A, Sørensen, P S, Sweeney, E, Taylor, J, Thakker, R V, Tomlinson, I, Trebes, A, Twigg, S R F, Uhlig, H H, Vyas, P, Vyse, T, Wall, S A, Watkins, H, Whyte, M P, Witty, L, Wright, B, Yau, C, Buck, D, Humphray, S, Ratcliffe, P J, Bell, J I, Wilkie, A O M, Bentley, D, Donnelly, P & McVean, G 2015, ' Factors influencing success of clinical genome sequencing across a broad spectrum of disorders ', Nature Genetics, vol. 47, no. 7, pp. 717-26 . https://doi.org/10.1038/ng.3304
To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::264c462e19ca02924993dc0e5f946c23
https://doi.org/10.1038/ng.3304
https://doi.org/10.1038/ng.3304
