Zobrazeno 1 - 10
of 115
pro vyhledávání: '"Kaplanis, J"'
Autor:
Wright, CF, Campbell, P, Eberhardt, RY, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, EJ, Chundru, VK, Lindsay, SJ, Andrews, K, Hampstead, J, Kaplanis, J, Samocha, KE, Middleton, A, Foreman, J, Hobson, RJ, Parker, MJ, Martin, HC, FitzPatrick, DR, Hurles, ME, Firth, HV
Publikováno v:
Wright, C F, Campbell, P, Eberhardt, R Y, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, E J, Chundru, V K, Lindsay, S J, Andrews, K A, Hampstead, J, Kaplanis, J, Samocha, K E, Middleton, A, Foreman, J, Hobson, R J, Parker, M, Martin, H C, FitzPatrick, D R, Hurles, M E & Firth, H V 2023, ' Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland ', New England Journal of Medicine . https://doi.org/https://www.nejm.org/doi/10.1056/NEJMoa2209046?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
N Engl J Med
N Engl J Med
Background Pediatric disorders include a range of highly penetrant, genetically heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits. Methods We co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44ca125a2f1e2095a7c5c211987eca09
https://doi.org/10.1056/nejmoa2209046
https://doi.org/10.1056/nejmoa2209046
Autor:
Wright, CF, Quaife, NM, Ramos-Hernández, L, Danecek, P, Ferla, MP, Samocha, KE, Kaplanis, J, Gardner, EJ, Eberhardt, RY, Chao, KR, Karczewski, KJ, Morales, J, Gallone, G, Balasubramanian, M, Banka, S, Gompertz, L, Kerr, B, Kirby, A, Lynch, SA, Morton, JEV, Pinz, H, Sansbury, FH, Stewart, H, Zuccarelli, BD, Consortium, Genomics England Research, Cook, SA, Taylor, JC, Juusola, J, Retterer, K, Firth, HV, Hurles, ME, Lara-Pezzi, E, Barton, PJR, Whiffin, N
Publikováno v:
Am J Hum Genet
Genomics England Research Consortium 2021, ' Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094 . https://doi.org/10.1016/j.ajhg.2021.04.025
Genomics England Research Consortium 2021, ' Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094 . https://doi.org/10.1016/j.ajhg.2021.04.025
Clinical genetic testing of protein-coding regions identifies a likely causative variant in only around half of developmental disorder (DD) cases. The contribution of regulatory variation in non-coding regions to rare disease, including DD, remains v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e16a87ad0288d35265ae7a6ad3db8b
https://europepmc.org/articles/PMC8206381/
https://europepmc.org/articles/PMC8206381/
Publikováno v:
Proceedings of the Royal Society of London. Series B, Biological Sciences, 1972 Feb . 180(1059), 203-221.
Externí odkaz:
https://www.jstor.org/stable/76156
Autor:
Martin, H.C., Gardner, E.J., Samocha, K.E., Kaplanis, J., Akawi, N., Sifrim, A., Eberhardt, R.Y., Tavares, A.L.T., Neville, M.D.C., Niemi, M.E.K., Gallone, G., McRae, J., Wright, C.F., FitzPatrick, D.R., Firth, H.V., Hurles, M.E.
Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::f903ad71ac4a4dd67420da62a296b4c4
Autor:
Kaplanis, J., Samocha, K.E., Wiel, L., Zhang, Z., Arvai, K.J., Eberhardt, R.Y., Gallone, G., Lelieveld, S.H., Martin, H.C., McRae, J.F., Short, P.J., Torene, R.I., de Boer, E., Danecek, P., Gardner, E.J., Huang, N., Lord, J., Martincorena, I., Pfundt, R., Reijnders, M.R.F., Yeung, A., Yntema, H.G., Deciphering Developmental Disorders Study, Vissers, L.E.L.M., Juusola, J., Wright, C.F., Brunner, H.G., Firth, H.V., FitzPatrick, D.R., Barrett, J.C., Hurles, M.E., Gilissen, C., Retterer, K.
De novo mutations in protein-coding genes are a well-established cause of developmental disorders. However, genes known to be associated with developmental disorders account for only a minority of the observed excess of such de novo mutations. Here,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::a9f25cd72344462e862eecea7e22559a
https://eprints.whiterose.ac.uk/167366/8/797787v3.full.pdf
https://eprints.whiterose.ac.uk/167366/8/797787v3.full.pdf
Autor:
Martin, H.C., Jones, W.D., McIntyre, R., Sanchez-Andrade, G., Sanderson, M., Stephenson, J.D., Jones, C.P., Handsaker, J., Gallone, G., Bruntraeger, M., McRae, J.F., Prigmore, E., Short, P., Niemi, M., Kaplanis, J., Radford, E.J., Akavvi, N., Balasubramanian, M., Dean, J., Horton, R., Hulbert, A., Johnson, D.S., Johnson, K., Kumar, D., Lynch, S.A., Mehta, S.G., Morton, J., Parker, M.J., Splitt, M., Turnpenny, P.D., Vasudevan, P.C., Wright, M., Bassett, A., Gerety, S.S., Wright, C.F., FitzPatrick, D.R., Firth, H.V., Hurles, M.E., Barrett, J.C., Study, D.D.D.
We estimated the genome-wide contribution of recessive coding variation in 6040 families from the Deciphering Developmental Disorders study. The proportion of cases attributable to recessive coding variants was 3.6% in patients of European ancestry,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::f06001fd12910e71af665d9abfa41f6a
https://eprints.whiterose.ac.uk/142383/3/DDD_Recessive.main_manuscript.revised.for_circulation.pdf
https://eprints.whiterose.ac.uk/142383/3/DDD_Recessive.main_manuscript.revised.for_circulation.pdf
Publikováno v:
Science, 1967 Sep . 157(3795), 1436-1438.
Externí odkaz:
https://www.jstor.org/stable/1723339
Autor:
Robbins, W. E., Kaplanis, J. N., Thompson, M. J., Shortino, T. J., Cohen, C. F., Joyner, S. C.
Publikováno v:
Science, 1968 Sep . 161(3846), 1158-1160.
Externí odkaz:
https://www.jstor.org/stable/1725399
Akademický článek
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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