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Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders

Autor: Yates, T.M, Lain, A., Campbell, J., FitzPatrick, D.R., Simpson, T.I.

Publikováno v: Yates, T M, Lain, A, Campbell, J, FitzPatrick, D R & Simpson, T I 2021 ' Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders ' . https://doi.org/10.1101/2021.11.04.21265878

There are >2500 different genetically-determined developmental disorders (DD), which, as a group, show very high levels of both locus and allelic heterogeneity. This has led to the wide-spread use of evidence-based filtering of genome-wide sequence d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3094::6b403384324096142d2851cdfa188b45
https://www.pure.ed.ac.uk/ws/files/249442850/Creation_an_Evaluation_YATES_PREPRINT_CC_BY_NC_ND.pdf

The contribution of X-linked coding variation to severe developmental disorders

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

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Autor: Haworth, S., Shapland, C.Y., Hayward, C., Prins, B.P., Felix, J.F., Medina-Gomez, C., Rivadeneira, F., Wang, C., Ahluwalia, T.S., Vrijheid, M., Guxens, M., Sunyer, J., Tachmazidou, I., Walter, K., Iotchkova, V., Jackson, A., Cleal, L., Huffmann, J., Min, J.L., Sass, L., Timmers, P.R.H.J., Turki, S.A., Anderson, C.A., Anney, R., Antony, D., Artigas, M.S., Ayub, M., Bala, S., Barrett, J.C., Barroso, I., Beales, P., Bentham, J., Bhattacharya, S., Birney, E., Blackwood, D., Bobrow, M., Bochukova, E., Bolton, P.F., Bounds, R., Boustred, C., Breen, G., Calissano, M., Carss, K., Charlton, R., Chatterjee, K., Chen, L., Ciampi, A., Cirak, S., Clapham, P., Clement, G., Coates, G., Cocca, M., Collier, D.A., Cosgrove, C., Cox, T., Craddock, N., Crooks, Lucy, Curran, S., Curtis, D., Daly, A., Danecek, P., Day, I.N.M., Day-Williams, A., Dominiczak, A., Down, T., Du, Y., Dunham, I., Durbin, R., Edkins, S., Ekong, R., Ellis, P., Evans, D.M., Farooqi, I.S., Fitzpatrick, D.R., Flicek, P., Floyd, J., Foley, A.R., Franklin, C.S., Futema, M., Gallagher, L., Gaunt, T.R., Geihs, M., Geschwind, D., Greenwood, C.M.T., Griffin, H., Grozeva, D., Guo, X., Gurling, H., Hart, D., Hendricks, A.E., Holmans, P., Howie, B., Huang, J., Huang, L., Hubbard, T., Humphries, S.E., Hurles, M.E., Hysi, P., Jackson, D.K.

© 2019, The Author(s). Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the transitio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::ff707a8a67de6c5f062fd256b1a3a49f
https://shura.shu.ac.uk/27935/1/s41467-018-07863-x.pdf

Quantifying the contribution of recessive coding variation to developmental disorders

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