Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Vassilis Ragoussis"'
Autor:
Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
Abstract Background Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly l
Externí odkaz:
https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc
Autor:
Adrian M. Shields, Alistair T. Pagnamenta, Andrew J. Pollard, OxClinWGS, Jenny C. Taylor, Holger Allroggen, Smita Y. Patel, Samantha J. L. Knight, Niko Popitsch, Carme Camps, Melissa M. Pentony, Erika M. Kvikstad, Lukas Lange, Mona Hashim, Steve Harris, Mark Tilley, Dimitris Vavoulis, Pamela Kaisaki, Vassilis Ragoussis, Matteo Feral
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Deficiency of complement factor I is a rare immunodeficiency that typically presents with increased susceptibility to encapsulated bacterial infections. However, non-infectious presentations including rheumatological, dermatological and neurological
Externí odkaz:
https://doaj.org/article/b00ed76bf8364c97a638ff44d5f2c49e
Publikováno v:
Genome Medicine, Vol 8, Iss 1, Pp 1-12 (2016)
Abstract Precision medicine (PM) can be defined as a predictive, preventive, personalized, and participatory healthcare service delivery model. Recent developments in molecular biology and information technology make PM a reality today through the us
Externí odkaz:
https://doaj.org/article/55bb0bc89b2346588fc016922ff21bef
Autor:
Andrew E. Fry, Vassilis Ragoussis, Alistair T. Pagnamenta, Martin A. McClatchey, Rebecca L Haines, Julian R. Sampson, Alice Gardham, Jan-Maarten Cobben, Edoardo Giacopuzzi, Mohnish Suri, Jenny C. Taylor, Deborah Osio
Publikováno v:
Journal of medical genetics. BMJ Publishing Group
Defects in tubulin beta 2A class IIa (TUBB2A) are associated with a range of complex cerebral cortex dysplasias.1 Despite several studies reporting NM_001069.3:c.743C>T p.(Ala248Val) as a recurrent pathogenic mutation,1 2 it is listed in ClinVar with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208a57a45944be11193fa841d6406d7b
https://ora.ox.ac.uk/objects/uuid:cdef1d4e-5592-49a2-a1ae-5603a8fc4c76
https://ora.ox.ac.uk/objects/uuid:cdef1d4e-5592-49a2-a1ae-5603a8fc4c76
Autor:
Vassilis, Ragoussis, Alistair T, Pagnamenta, Rebecca L, Haines, Edoardo, Giacopuzzi, Martin A, McClatchey, Julian R, Sampson, Mohnish, Suri, Alice, Gardham, Jan-Maarten, Cobben, Deborah, Osio, Andrew E, Fry, M, Zarowiecki
Publikováno v:
Journal of medical genetics. 59(4)
Autor:
Coranne D. Tesselaar, Usha Kini, Vandana Shashi, Willie Reardon, H. T. Marc Timmers, Donna M. Martin, Jenny C. Taylor, Dong Li, Elizabeth M. McCormick, Alice Goldenberg, Marketa Havlovicova, Peter M. van Hasselt, Harmjan R. Vos, Maria J.E. Koster, Daphné Lehalle, Sophie Patrier, Elena Lopez, Rolph Pfundt, Richard F.M.A. van Schaik, Koen L.I. van Gassen, Gerarda Cappuccio, Julien Thevenon, Clesson Turner, Ingrid M.B.H. van de Laar, Marni J. Falk, Marketa Vlckova, Vassilis Ragoussis, Robert M. van Es, Nicola Brunetti-Pierri, Michele Pinelli, Alistair T. Pagnamenta, Christina Fagerberg, Darina Prchalova, Slavé Petrovski, Anna Lehman, Hakon Hakonarson, Ton van Essen, Maria Kibaek, Hanneke A. Haijes, G. Bradley Schaefer, Miroslava Hancarova, Jennifer A. Sullivan, Sedlácek Z, Holger Rehmann
Publikováno v:
American Journal of Human Genetics, 105, 283-301
American Journal of Human Genetics, 105, 2, pp. 283-301
American Journal of Human Genetics, 105(2), 283-301. Cell Press
American Journal of Human Genetics, 105(2), 283. Cell Press
Haijes, H A, Koster, M J E, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, G B, Lehman, A, van de Laar, I M B H, Tesselaar, C D, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalová, D, Havlovicová, M, Vlckova, M, Sedláček, Z, Lopez, E, Ragoussis, V, Pagnamenta, A T, Kini, U, Vos, H R, van Es, R M, van Schaik, R F M A, van Essen, T A J, Kibaek, M, Taylor, J C, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, D M, van Gassen, K L I, Pfundt, R, Falk, M J, McCormick, E M, Timmers, H T M & van Hasselt, P M 2019, ' De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia ', American Journal of Human Genetics, vol. 105, no. 2, pp. 283-301 . https://doi.org/10.1016/j.ajhg.2019.06.016
American Journal of Human Genetics, 105(2), 283-301. CELL PRESS
American Journal of Human Genetics, 105, 2, pp. 283-301
American Journal of Human Genetics, 105(2), 283-301. Cell Press
American Journal of Human Genetics, 105(2), 283. Cell Press
Haijes, H A, Koster, M J E, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, G B, Lehman, A, van de Laar, I M B H, Tesselaar, C D, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalová, D, Havlovicová, M, Vlckova, M, Sedláček, Z, Lopez, E, Ragoussis, V, Pagnamenta, A T, Kini, U, Vos, H R, van Es, R M, van Schaik, R F M A, van Essen, T A J, Kibaek, M, Taylor, J C, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, D M, van Gassen, K L I, Pfundt, R, Falk, M J, McCormick, E M, Timmers, H T M & van Hasselt, P M 2019, ' De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia ', American Journal of Human Genetics, vol. 105, no. 2, pp. 283-301 . https://doi.org/10.1016/j.ajhg.2019.06.016
American Journal of Human Genetics, 105(2), 283-301. CELL PRESS
The RNA polymerase II complex (pol II) is responsible for transcription of all similar to 21,000 human protein-encoding genes. Here, we describe sixteen individuals harboring de novo heterozygous variants in POLR2A, encoding RPB1, the largest subunit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f4cd55fa3c8a36c6f53d61e8bd024f
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/206057
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/206057
Publikováno v:
Genome Medicine
Genome Medicine, Vol 8, Iss 1, Pp 1-12 (2016)
Genome medicine, 8:108
Genome Medicine, Vol 8, Iss 1, Pp 1-12 (2016)
Genome medicine, 8:108
Precision medicine (PM) can be defined as a predictive, preventive, personalized, and participatory healthcare service delivery model. Recent developments in molecular biology and information technology make PM a reality today through the use of mass
Publikováno v:
The American Journal of Bioethics. 14:53-55
Scientific breakthroughs in the field of genomics have sparked the sprawling of direct-to-consumer (DTC), low-cost Internet genetic services and generated an unprecedented amount of genetic data. W...