Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Mihail Halachev"'
Autor:
Mihail Halachev, Viktoria-Eleni Gountouna, Alison Meynert, Gannie Tzoneva, Alan R. Shuldiner, Colin A. Semple, James F. Wilson
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract It is unclear how patterns of regional genetic differentiation in the UK and Ireland might impact the protein-coding fraction of the genome. We exploit UK Biobank (UKB) and Viking Genes whole exome sequencing data to study regional genetic d
Externí odkaz:
https://doaj.org/article/a83a3ee794774ee0b9a9a70a69d6acce
Autor:
Anja Thormann, Mihail Halachev, William McLaren, David J. Moore, Victoria Svinti, Archie Campbell, Shona M. Kerr, Marc Tischkowitz, Sarah E. Hunt, Malcolm G. Dunlop, Matthew E. Hurles, Caroline F. Wright, Helen V. Firth, Fiona Cunningham, David R. FitzPatrick
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Diagnostic filtering is an important step to analyze the functional and clinical significance of the large number of genetic variants identified from next-generation genome sequencing data. Here, the authors develop a flexible and scalable system for
Externí odkaz:
https://doaj.org/article/ccd9321a1f9b4997aca42718d842068e
Autor:
Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Jilly Hope, Adam Jackson, James G Prendergast, Liusaidh J Owen, Magali Naville, Jacqueline Rainger, Graeme Grimes, Mihail Halachev, Laura C Murphy, Olivera Spasic-Boskovic, Veronica van Heyningen, Peter Kind, Catherine M Abbott, Emily Osterweil, F Lucy Raymond, Hugues Roest Crollius, David R FitzPatrick
Publikováno v:
PLoS ONE, Vol 16, Iss 8, p e0256181 (2021)
Identifying causative variants in cis-regulatory elements (CRE) in neurodevelopmental disorders has proven challenging. We have used in vivo functional analyses to categorize rigorously filtered CRE variants in a clinical cohort that is plausibly enr
Externí odkaz:
https://doaj.org/article/4eb3db40878647e9883fefc1a958a6db
Autor:
Mihail Halachev, Alison Meynert, Martin S Taylor, Veronique Vitart, Shona M Kerr, Lucija Klaric, S. G. P. Consortium, Timothy J Aitman, Chris S Haley, James G Prendergast, Carys Pugh, David A Hume, Sarah E Harris, David C Liewald, Ian J Deary, Colin A Semple, James F Wilson
Publikováno v:
PLoS Genetics, Vol 15, Iss 11, p e1008480 (2019)
Human population isolates provide a snapshot of the impact of historical demographic processes on population genetics. Such data facilitate studies of the functional impact of rare sequence variants on biomedical phenotypes, as strong genetic drift c
Externí odkaz:
https://doaj.org/article/09ea862e75084e98bfa75eb5fa8e4a38
Autor:
Mark T Handley, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath, Mihail Halachev, Gavin Falkous, Denise Williams, Phillip Cox, Alison Meynert, Eleanor S Raymond, Harris Morrison, Stephen Brown, Emma Allan, Irene Aligianis, Andrew P Jackson, Bernard H Ramsahoye, Alex von Kriegsheim, Robert W Taylor, Andrew J Finch, David R FitzPatrick
Publikováno v:
PLoS Genetics, Vol 15, Iss 3, p e1007605 (2019)
Typical Martsolf syndrome is characterized by congenital cataracts, postnatal microcephaly, developmental delay, hypotonia, short stature and biallelic hypomorphic mutations in either RAB3GAP1 or RAB3GAP2. Genetic analysis of 85 unrelated "mutation n
Externí odkaz:
https://doaj.org/article/192d26f5eb27480d89b58d0f330125b8
Autor:
Morad Ansari, Mihail Halachev, David Parry, Jose L. Campos, Elston N. D’Souza, Christopher Barnett, Andrew O. M. Wilkie, Angela Barnicoat, Chirag V. Patel, Elena Sukarova-Angelovska, Katta M. Girisha, Helen V. Firth, Katrina Prescott, Louise C. Wilson, Meriel McEntagart, Rosemarie Davidson, Sally Ann Lynch, Shelagh Joss, Simon T. Holden, Wayne K. Lam, Sanjay M. Sisodiya, Andrew J. Green, Gemma Poke, Nicola Whiffin, David R. FitzPatrick, Alison Meynert
AimsThis study assesses the diagnostic utility of whole genome sequence analysis in a well-characterised research cohort of individuals referred with a clinical suspicion of Cornelia de Lange syndrome (CdLS) in whom prior genetic testing had not iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::658ddd56bd89aab50f38913ae70df264
https://doi.org/10.1101/2022.09.18.22277970
https://doi.org/10.1101/2022.09.18.22277970
Autor:
Stuart Aitken, Helen V. Firth, Jeremy McRae, Mihail Halachev, Usha Kini, Michael J. Parker, Melissa M. Lees, Katherine Lachlan, Ajoy Sarkar, Shelagh Joss, Miranda Splitt, Shane McKee, Andrea H. Németh, Richard H. Scott, Caroline F. Wright, Joseph A. Marsh, Matthew E. Hurles, David R. FitzPatrick, T.W. Fitzgerald, S.S. Gerety, W.D. Jones, M. van Kogelenberg, D.A. King, J. McRae, K.I. Morley, V. Parthiban, S. Al-Turki, K. Ambridge, D.M. Barrett, T. Bayzetinova, S. Clayton, E.L. Coomber, S. Gribble, P. Jones, N. Krishnappa, L.E. Mason, A. Middleton, R. Miller, E. Prigmore, D. Rajan, A. Sifrim, A.R. Tivey, M. Ahmed, N. Akawi, R. Andrews, U. Anjum, H. Archer, R. Armstrong, M. Balasubramanian, R. Banerjee, D. Barelle, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A.P. Bevan, E. Blair, M. Blyth, D. Bohanna, L. Bourdon, D. Bourn, A. Brady, E. Bragin, C. Brewer, L. Brueton, K. Brunstrom, S.J. Bumpstead, D.J. Bunyan, J. Burn, J. Burton, N. Canham, B. Castle, K. Chandler, S. Clasper, J. Clayton-Smith, T. Cole, A. Collins, M.N. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, P.M. D’Alessandro, T. Dabir, R. Davidson, S. Davies, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dominiczak, C. Donnelly, D. Donnelly, A. Douglas, A. Duncan, J. Eason, S. Edkins, S. Ellard, P. Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fryer, B. Fu, C. Gardiner, L. Gaunt, N. Ghali, R. Gibbons, S.L. Gomes Pereira, J. Goodship, D. Goudie, E. Gray, P. Greene, L. Greenhalgh, L. Harrison, R. Hawkins, S. Hellens, A. Henderson, E. Hobson, S. Holden, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, S. Ingram, M. Irving, J. Jarvis, L. Jenkins, D. Johnson, D. Jones, E. Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, B. Kerr, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, D. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, G. Lowther, S.A. Lynch, A. Magee, E. Maher, S. Mansour, K. Marks, K. Martin, U. Maye, E. McCann, V. McConnell, M. McEntagart, R. McGowan, K. McKay, S. McKee, D.J. McMullan, S. McNerlan, S. Mehta, K. Metcalfe, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, A. Morris, J. Morton, H. Mugalaasi, V. Murday, L. Nevitt, R. Newbury-Ecob, A. Norman, R. O’Shea, C. Ogilvie, S. Park, M.J. Parker, C. Patel, J. Paterson, S. Payne, J. Phipps, D.T. Pilz, D. Porteous, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Proctor, H. Purnell, N. Ragge, J. Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, G. Roberts, J. Roberts, P. Roberts, A. Ross, E. Rosser, A. Saggar, S. Samant, R. Sandford, A. Sarkar, S. Schweiger, C. Scott, R. Scott, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, D. Shears, I. Simonic, D. Simpkin, R. Singzon, Z. Skitt, A. Smith, B. Smith, K. Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, F. Stewart, H. Stewart, M. Suri, V. Sutton, G.J. Swaminathan, E. Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, I.K. Temple, J. Thomson, J. Tolmie, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, P. Vasudevan, J. Vogt, E. Wakeling, D. Walker, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, S. Wilcox, D. Williams, N. Williams, G. Woods, C. Wragg, M. Wright, F. Yang, M. Yau, N.P. Carter, M. Parker, H.V. Firth, D.R. FitzPatrick, C.F. Wright, J.C. Barrett, M.E. Hurles
Publikováno v:
American Journal of Human Genetics
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015
Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the breadth of phenotypic inf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8438162f307fa6cb5836ae7a28494148
https://doi.org/10.1016/j.ajhg.2019.09.015
https://doi.org/10.1016/j.ajhg.2019.09.015
Autor:
Catherine M. Abbott, Mihail Halachev, Detelina Grozeva, Hugues Roest Crollius, F. Lucy Raymond, James Prendergast, Peter C. Kind, Hemant Bengani, Jacqueline K. Rainger, Laura C. Murphy, Liusaidh J Owen, Veronica van Heyningen, Adam Jackson, Lambert Moyon, Graeme R. Grimes, Olivera Spasic-Boskovic, Magali Naville, Emily K. Osterweil, Jilly Hope, David R. FitzPatrick, Shipra Bhatia, Susana R. Louros
Publikováno v:
PLoS ONE, Vol 16, Iss 8, p e0256181 (2021)
PLoS ONE
PLoS ONE, Public Library of Science, 2021, 16 (8), pp.e0256181. ⟨10.1371/journal.pone.0256181⟩
Bengani, H, Grozeva, D, Moyon, L, Bhatia, S, Louros, S R, Hope, J, Jackson, A, Prendergast, J G, Owen, L J, Naville, M, Rainger, J, Grimes, G, Halachev, M, Murphy, L C, Spasic-Boskovic, O, van Heyningen, V, Kind, P, Abbott, C M, Osterweil, E, Raymond, F L, Roest Crollius, H & FitzPatrick, D R 2021, ' Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability ', PLoS ONE, vol. 16, no. 8, e0256181 . https://doi.org/10.1371/journal.pone.0256181
PLoS ONE
PLoS ONE, Public Library of Science, 2021, 16 (8), pp.e0256181. ⟨10.1371/journal.pone.0256181⟩
Bengani, H, Grozeva, D, Moyon, L, Bhatia, S, Louros, S R, Hope, J, Jackson, A, Prendergast, J G, Owen, L J, Naville, M, Rainger, J, Grimes, G, Halachev, M, Murphy, L C, Spasic-Boskovic, O, van Heyningen, V, Kind, P, Abbott, C M, Osterweil, E, Raymond, F L, Roest Crollius, H & FitzPatrick, D R 2021, ' Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability ', PLoS ONE, vol. 16, no. 8, e0256181 . https://doi.org/10.1371/journal.pone.0256181
Funder: BBSRC studentship
Identifying causative variants in cis-regulatory elements (CRE) in neurodevelopmental disorders has proven challenging. We have used in vivo functional analyses to categorize rigorously filtered CRE variants in a clinic
Identifying causative variants in cis-regulatory elements (CRE) in neurodevelopmental disorders has proven challenging. We have used in vivo functional analyses to categorize rigorously filtered CRE variants in a clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689bedb7f80332ef6f820a6237c9dcc3
https://doaj.org/article/4eb3db40878647e9883fefc1a958a6db
https://doaj.org/article/4eb3db40878647e9883fefc1a958a6db
Autor:
Laura C. Murphy, Shipra Bhatia, Jacqueline K. Rainger, Liusaidh J Owen, James Prendergast, Emily K. Osterweil, Lambert Moyon, Peter C. Kind, Susana R. Louros, Jilly Hope, David R. FitzPatrick, Olivera Spasic Boskovic, Lucy Raymond, Magali Naville, Detelina Grozeva, Hemant Bengani, Mihail Halachev, Graeme R. Grimes, Hugues Roest Crollius, Veronica van Heyningen, Catherine M. Abbott, Adam Jackson
Undiagnosed neurodevelopmental disease is significantly associated with rare variants in cis-regulatory elements (CRE) but demonstrating causality is challenging as target gene consequences may differ from a causative variant affecting the coding reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6925cd7e89301be8c718ea847b34bc22
https://doi.org/10.1101/2020.08.03.232926
https://doi.org/10.1101/2020.08.03.232926
Autor:
Veronique Vitart, Shona M. Kerr, Javier Santoyo-Lopez, Caroline Hayward, Alison M. Meynert, Colin A. Semple, Heikki Swan, James F. Wilson, Timothy J. Aitman, Zosia Miedzybrodzka, Chris Haley, Mihail Halachev, John Dean, Annukka M. Tuiskula, Thibaud Boutin, Lucija Klaric
Publikováno v:
Kerr, S, Klaric, L, Halachev, M, Hayward, C, Boutin, T, Meynert, A M, Semple, C A, Tuiskula, A M, Swan, H, Santoyo-Lopez, J, Vitart, V, Haley, C, Dean, J, Miedzybrodzka, Z, Aitman, T J & Wilson, J F 2019, ' An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort ', Scientific Reports, vol. 9, 10964 . https://doi.org/10.1038/s41598-019-47436-6
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
The Viking Health Study Shetland is a population-based research cohort of 2,122 volunteer participants with ancestry from the Shetland Isles in northern Scotland. The high kinship and detailed phenotype data support a range of approaches for associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54452fd64d8686cd318b0a2320b69ae9
https://www.pure.ed.ac.uk/ws/files/104875868/s41598_019_47436_6.pdf
https://www.pure.ed.ac.uk/ws/files/104875868/s41598_019_47436_6.pdf