Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Mcmullan DJ"'
Autor:
Mone, F, McMullan, DJ, Williams, D, Chitty, LS, Maher, ER, Kilby, MD, Fetal Genomics Steering Group of the British Society for Genetic Medicine, Royal College of Obstetricians and Gynaecologists
Structural differences (congenital anomalies) in the makeup of the baby's heart, brain and other organs are found on antenatal ultrasound scans in up to 3% of pregnancies. These often have a genetic cause, arising because of changes in the chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1804a07c8a6afc0c8f5017d618fd1c00
Autor:
Mellis, R, Eberhardt, RY, Hamilton, SJ, PAGE Consortium, McMullan, DJ, Kilby, MD, Maher, ER, Hurles, ME, Giordano, JL, Aggarwal, V, Goldstein, DB, Wapner, RJ, Chitty, LS
Funder: National Institute for Health Research (NIHR) Biomedical Research Centre, Great Ormond Street Hospital; Id: http://dx.doi.org/10.13039/501100019256
OBJECTIVE: To evaluate the utility of prenatal exome sequencing (ES) for isolated increas
OBJECTIVE: To evaluate the utility of prenatal exome sequencing (ES) for isolated increas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d927ba68607661de24123e35265fd97
https://www.repository.cam.ac.uk/handle/1810/327974
https://www.repository.cam.ac.uk/handle/1810/327974
Autor:
Mone, F, Eberhardt, RY, Hurles, ME, Mcmullan, DJ, Maher, ER, Lord, J, Chitty, LS, Dempsey, E, Homfray, T, Giordano, JL, Wapner, RJ, Sun, L, Sparks, TN, Norton, ME, Kilby, MD
OBJECTIVE: To determine the incremental yield of exome sequencing (ES) over chromosomal microarray analysis (CMA) or karyotyping in prenatally diagnosed non-immune hydrops fetalis (NIHF). METHODS: A prospective cohort study (comprising an extended gr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c94342afc479c71541ed3bbb40f01394
Autor:
Mone, F, Eberhardt, RY, Morris, RK, Hurles, ME, McMullan, DJ, Maher, ER, Lord, J, Chitty, LS, Giordano, JL, Wapner, RJ, Kilby, MD, CODE Study Collaborators
OBJECTIVE: To determine the incremental yield of antenatal exome sequencing (ES) over chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally diagnosed congenital heart disease (CHD). METHODS: A prospective cohort study of 197
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4d2066530d2476b9af46cf720f84d37
https://www.repository.cam.ac.uk/handle/1810/310143
https://www.repository.cam.ac.uk/handle/1810/310143
Publikováno v:
BJOG: An International Journal of Obstetrics & Gynaecology; Aug2021, Vol. 128 Issue 9, pe39-e50, 12p
Autor:
McRae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Banka, S, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cox, H, Cresswell, L, Cross, G, Crow, Y, D’Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, McKay, K, McKee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O’Shea, R, Ogilvie, C, Ong, K-R, Park, S-M, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Vogt, J, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellåker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME
Publikováno v:
2017, ' Prevalence and architecture of de novo mutations in developmental disorders ', Nature, vol. 542, no. 7642, pp. 433-438 . https://doi.org/10.1038/nature21062
Deciphering Developmental Disorders Study & Crow, Y 2017, ' Prevalence and architecture of de novo mutations in developmental disorders ', Nature, vol. 542, no. 7642, pp. 433-438 . https://doi.org/10.1038/nature21062
Nature
Deciphering Developmental Disorders Study & Crow, Y 2017, ' Prevalence and architecture of de novo mutations in developmental disorders ', Nature, vol. 542, no. 7642, pp. 433-438 . https://doi.org/10.1038/nature21062
Nature
Children with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,294 families with children with DDs, and meta-analysed these data with publish
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac7e5d7fcf4831a7f999caac0003a6df
Publikováno v:
BJOG: An International Journal of Obstetrics & Gynaecology; Sep2013, Vol. 120 Issue 10, p1296-1296, 6p
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