Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Eleni A. Chatzimichali"'
Autor:
Eleni A. Chatzimichali, Helen V. Firth, Caroline F. Wright, Ganesh J. Swaminathan, Matthew E. Hurles, Daniel Perrett, Benjamin Hutton, A. P. Bevan, Simon Brent
Publikováno v:
Human Mutation
DECIPHER (https://decipher.sanger.ac.uk) is a web‐based platform for secure deposition, analysis, and sharing of plausibly pathogenic genomic variants from well‐phenotyped patients suffering from genetic disorders. DECIPHER aids clinical interpre
Autor:
Michael Parker, Caroline F. Wright, G. Jawahar Swaminathan, Philip Jones, Stephen Clayton, Alejandro Sifrim, Daniel A. King, Netravathi Krishnappa, Laura E Mason, Vijaya Parthiban, Katherine I. Morley, Margriet van Kogelenberg, Matthew E. Hurles, David R. FitzPatrick, Jeremy F. McRae, Eugene Bragin, Elena Prigmore, Helen V. Firth, Kirsty Ambridge, Wendy D Jones, Diana Rajan, Ray Miller, Daniel M Barrett, Tanya Bayzetinova, A. Paul Bevan, Nigel P. Carter, Susan M. Gribble, Jeffrey C. Barrett, Tomas W Fitzgerald, Eleni A. Chatzimichali, Adrian Tivey, Anna Middleton
Publikováno v:
Lancet
Wright, C F, Fitzgerald, T W, Jones, W D, Clayton, S, McRae, J F, van Kogelenberg, M, King, D A, Ambridge, K, Barrett, D M, Bayzetinova, T, Bevan, A P, Bragin, E, Chatzimichali, E A, Gribble, S, Jones, P, Krishnappa, N, Mason, L E, Miller, R, Morley, K I, Parthiban, V, Prigmore, E, Rajan, D, Sifrim, A, Swaminathan, G J, Tivey, A R, Middleton, A, Parker, M, Carter, N P, Barrett, J C, Hurles, M E, FitzPatrick, D R, Firth, H V 2015, ' Genetic diagnosis of developmental disorders in the DDD study : a scalable analysis of genome-wide research data ', Lancet, vol. 385, no. 9975, pp. 1305-1314 . https://doi.org/10.1016/S0140-6736(14)61705-0
Europe PubMed Central
Wright, C F, Fitzgerald, T W, Jones, W D, Clayton, S, McRae, J F, van Kogelenberg, M, King, D A, Ambridge, K, Barrett, D M, Bayzetinova, T, Bevan, A P, Bragin, E, Chatzimichali, E A, Gribble, S, Jones, P, Krishnappa, N, Mason, L E, Miller, R, Morley, K I, Parthiban, V, Prigmore, E, Rajan, D, Sifrim, A, Swaminathan, G J, Tivey, A R, Middleton, A, Parker, M, Carter, N P, Barrett, J C, Hurles, M E, FitzPatrick, D R, Firth, H V 2015, ' Genetic diagnosis of developmental disorders in the DDD study : a scalable analysis of genome-wide research data ', Lancet, vol. 385, no. 9975, pp. 1305-1314 . https://doi.org/10.1016/S0140-6736(14)61705-0
Europe PubMed Central
BACKGROUND: Human genome sequencing has transformed our understanding of genomic variation and its relevance to health and disease, and is now starting to enter clinical practice for the diagnosis of rare diseases. The question of whether and how som
Autor:
Eugene Bragin, Matthew E. Hurles, Caroline F. Wright, G. Jawahar Swaminathan, Eleni A. Chatzimichali, A. Paul Bevan, Helen V. Firth
Publikováno v:
Nucleic Acids Research
The DECIPHER database (https://decipher.sanger.ac.uk/) is an accessible online repository of genetic variation with associated phenotypes that facilitates the identification and interpretation of pathogenic genetic variation in patients with rare dis
Publikováno v:
Saha, S, Chatzimichali, E A, Matthews, D A & Bessant, C 2018, ' PITDB : a database of translated genomic elements ', Nucleic Acids Research, vol. 46, no. D1, gkx906, pp. D1223-D1228 . https://doi.org/10.1093/nar/gkx906
Nucleic Acids Research
Nucleic Acids Research
PITDB is a freely available database of translated genomic elements (TGEs) that have been observed in PIT (proteomics informed by transcriptomics) experiments. In PIT, a sample is analyzed using both RNA-seq transcriptomics and proteomic mass spectro
Autor:
Nigel P. Carter, Helen V. Firth, Matthew E. Hurles, A. Paul Bevan, Ganesh J. Swaminathan, Caroline F. Wright, Eugene Bragin, Manuel Corpas, Eleni A. Chatzimichali
Publikováno v:
Human Molecular Genetics. 21:R37-R44
Patients with developmental disorders often harbour sub-microscopic deletions or duplications that lead to a disruption of normal gene expression or perturbation in the copy number of dosage-sensitive genes. Clinical interpretation for such patients
Autor:
Conrad Bessant, Eleni A. Chatzimichali
Publikováno v:
Metabolomics
Today’s researchers have access to an unprecedented range of powerful machine learning tools with which to build models for classifying samples according to their metabolomic profile (e.g. separating diseased samples from healthy controls). However
Autor:
Nicola S. Cooper, S Samant, H Purnell, Claire L. S. Turner, A Vandersteen, Alex Magee, Susan Tomkins, Louise C. Wilson, L Greenhalgh, IK Temple, Irina Colgiu, A Duncan, G Cross, Susan E. Holder, C Wragg, Deirdre E. Donnelly, Nadia Akawi, Linda Sneddon, Eamonn Sheridan, Wendy D Jones, I Ellis, David Bourn, Joanna Poulton, Ingrid Simonic, R Singzon, Lisa Bradley, Matthew E. Hurles, Meena Balasubramanian, Dominic J. McMullan, Trevor Cole, Gillian Roberts, J Thomson, Moira Blyth, G Hollingsworth, Neeti Ghali, Alex Henderson, Zara Skitt, E Roberts, G Woods, David Goudie, J Awada, Caroline Langman, U Anjum, Martin O. Pollard, Usha Kini, Stephen Clayton, J Burn, Daniel M Barrett, Vka Kumar, Angela E. Douglas, Natalie Canham, Ruth Armstrong, Denise Williams, C Shaw-Smith, Lorraine Gaunt, S Ingram, Edward Blair, K Brunstrom, O. W.J. Quarrell, Ben Hutton, Nora Shannon, S Wallwark, Laura E Mason, Sarah F. Smithson, Jeremy F. McRae, Amanda L. Collins, Shane McKee, Katrina Prescott, Lara Cresswell, Sofia Douzgou, L Islam, C Deshpande, J Waters, Anna Middleton, S-M Park, Tarjinder Singh, Liu He, M Tein, T Fendick, B Kaemba, Tara Montgomery, Michael Wright, Jenny Morton, J Roberts, Emma Hobson, Caroline Mackie Ogilvie, Katrina Tatton-Brown, Lucy Jenkins, A Coates, Abhijit Dixit, Deborah J. Shears, Kath Smith, D. Baty, D Lim, D Cilliers, Richard Gibbons, Ruth Newbury-Ecob, M Squires, Nicola K. Ragge, Anneke Seller, E Kivuva, Kay Metcalfe, Fiona Stewart, K Marks, Elisabeth Rosser, R Fisher, Andrew E. Fry, Joan Paterson, Diana Wellesley, Dian Donnai, Christopher P. Bennett, Jonathan Berg, Ganesh J. Swaminathan, Lucy Raymond, Sally Ann Lynch, Pradeep C. Vasudevan, Rosemarie Davidson, Melita Irving, John Dean, Margo Whiteford, Melissa Lees, S Payne, K-R Ong, Emma Gray, M Holder, Dragana Josifova, Claire Kirk, McConnell, Helen Cox, Sarju G. Mehta, Elena Prigmore, Emma Shearing, Anand Saggar, Angela Barnicoat, Alejandro Sifrim, Nicola Foulds, Katherine Martin, Joanna Kaplanis, Sahar Mansour, Kirsty Ambridge, Clowes, A Procter, Z Miedzybrodzka, Katherine Lachlan, S Schweiger, E Maher, Allyson Ross, Simon Brent, C Sequeira, Tabib Dabir, Netravathi Krishnappa, Andrew Smith, B Bernhard, Andrew Green, Sara Widaa, Daniel A. King, Astrid Weber, Harinder Gill, Frances Flinter, Ruth McGowan, Siddharth Banka, Susan E. McNerlan, Elizabeth M. Sweeney, L Nevitt, Michael Parker, Hood Mugalaasi, AP Bevan, L Harrison, Varghese, Lucy Hildyard, Murday, G Kirby, S Clasper, Sutton, Clare Taylor, Andrew Jackson, A Selby, E Wilkinson, Miranda Splitt, Stuart Aitken, Shelagh Joss, Fiona Connell, Julie Vogt, Jill Clayton-Smith, Alan Fryer, N Pratt, Parthiban Vijayarangakannan, Shehla Mohammed, Susan Price, Wayne Lam, Peter D. Turnpenny, C Tysoe, Raheleh Rahbari, Marc Tischkowitz, N Williams, Tessa Homfray, Maria Bitner-Glindzicz, Helen Murphy, Meriel M. McEntagart, Sian Ellard, M Ahmed, R O'Shea, Andrew R. Norman, Daniel Perrett, Harrison, Philip Greene, David Moore, R Hawkins, DT Pilz, FitzPatrick, P Batstone, Esther Kinning, Caroline F. Wright, Yanick J. Crow, Kate Chandler, C Donnelly, Leema Robert, Straub, Susan M. Gribble, Philip Jones, D de Vries, K Evans, Simon J. Davies, Diana Baralle, E Miles, Jeffrey C. Barrett, A Lampe, Joshua C. Randall, Bruce Castle, K McKay, D Rice, Becky Treacy, Richard H Scott, Rosemary Kelsell, Angela F. Brady, Julian R. Sampson, J Jarvis, Laura Yates, R Sandford, Hayley Archer, M Yau, Mohnish Suri, Caroline Pottinger, Dhavendra Kumar, R. Taylor, Alison Kraus, L Bourdon, Alan Donaldson, S Everest, S Kazembe, Sian Morgan, C Longman, Ingrid Scurr, Alison Male, Ajoy Sarkar, Helen Kingston, Emma McCann, Julie M. Phipps, Andrea H. Németh, A Pridham, D Bohanna, C Gardiner, Diana Johnson, Tomas W Fitzgerald, Eleni A. Chatzimichali, A Dobbie, Diana Rajan, Frances Elmslie, Mohsan Alvi, Pendaran Roberts, Bronwyn Kerr, M D'Alessandro, Elizabeth A. Jones, Simon Holden, U Maye, Helen V. Firth, J Rankin, H. Stewart, S Naik, Adrian Tivey, Chirag N. Patel, Tanya Bayzetinova, G Lowther, G Devlin, A Torokwa, DJ Bunyan, Judith A. Goodship, Sarah Hewitt, Emma Wakeling, Christoffer Nellåker, S Wilcox, Saba Sharif, MN Collinson, C Brewer, Jacqueline Eason, C McWilliam, Jane A. Hurst, Angus John Clarke, Mervyn Humphreys, Stephen W. Hellens
Publikováno v:
bioRxiv
Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,293 families with individuals with DDs, and meta-analysed these data with p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05bb4561c3a9591c4a2949e1c96f759e
https://eprints.whiterose.ac.uk/142386/8/049056v3.full.pdf
https://eprints.whiterose.ac.uk/142386/8/049056v3.full.pdf