المؤلفون: Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., van Haeringen, A.

المصدر: European Journal of Human Genetics ; volume 27, issue 11, page 1677-1682 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-019-0413-6Test
http://www.nature.com/articles/s41431-019-0413-6.pdfTest
http://www.nature.com/articles/s41431-019-0413-6Test

المؤلفون: 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

المساهمون: Leducq Foundation for Cardiovascular Research, Imperial College Healthcare NHS Trust- BRC Funding

المصدر: 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.2021.04.025Test

مصطلحات موضوعية: Untranslated region, medicine.medical_specialty, DNA Copy Number Variations, Developmental Disabilities, Biology, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Exome Sequencing, Genetics, medicine, Coding region, Humans, Genetic Predisposition to Disease, Child, Exome, Gene, 11 Medical and Health Sciences, Genetics (clinical), Loss function, Exome sequencing, 030304 developmental biology, Genetics & Heredity, 0303 health sciences, MEF2 Transcription Factors, developmental disorders, clinical genetic testing, non-coding region variants, 5' UTR variants, 06 Biological Sciences, Genomics England Research Consortium, Medical genetics, Haploinsufficiency, 5' Untranslated Regions, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e16a87ad0288d35265ae7a6ad3db8bTest
https://europepmc.org/articles/PMC8206381Test/

المؤلفون: Lehmann, K., Seemann, P., Silan, F., Goecke, T.O., Irgang, S., Kjaer, K.W., Kjaergaard, S., Mahoney, M.J., Morlot, S., Reissner, C., Kerr, B., Wilkie, A.O.M., Mundlos, S.

المصدر: The American Journal of Human Genetics ; volume 81, issue 2, page 388-396 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/519697Test
https://api.elsevier.com/content/article/PII:S000292970761204X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292970761204X?httpAccept=text/plainTest

المؤلفون: Upadhyaya, M., Huson, S.M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D.G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J.P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., Messiaen, L.

المصدر: The American Journal of Human Genetics ; volume 80, issue 1, page 140-151 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/510781Test
https://api.elsevier.com/content/article/PII:S0002929707609288?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707609288?httpAccept=text/plainTest

المؤلفون: Kerr, B

المصدر: Journal of Medical Genetics ; volume 40, issue 6, page 74e-74 ; ISSN 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmg.40.6.e74Test

المؤلفون: Kerr, B

المصدر: Journal of Medical Genetics ; volume 40, issue 6, page 469-471 ; ISSN 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmg.40.6.469Test

المؤلفون: Zweier, M., Begemann, A., Mcwalter, K., Cho, M. T., Abela, L., Banka, S., Behring, B., Berger, A., Brown, C. W., Carneiro, M., Chen, J., Cooper, G. M., Finnila, C. R., Sacoto, M. J. Guillen, Henderson, A., Hueffmeier, U., Joset, P., Kerr, B., Lesca, G., Leszinski, G. S., Mcdermott, J. H., Meltzer, M. R., Monaghan, K. G., Mostafavi, R., Ounap, K., Plecko, B., Powis, Z., Purcarin, G., Reimand, T., Riedhammer, K. M., Schreiber, J. M., Sirsi, D., Wierenga, K. J., Wojcik, M. H., Papuc, S. M., Steindl, K., Sticht, H., Anita Rauch

المصدر: Deciphering Developmental Disorders (DDD) Study 2019, ' Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures ', European journal of human genetics : EJHG . https://doi.org/10.1038/s41431-018-0331-zTest
Web of Science
Eur J Hum Genet

مصطلحات موضوعية: Male, Models, Molecular, Candidate gene, Cytoplasm, Biology, Article, Seizures, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Adaptor Proteins, Signal Transducing, Intron, Protein primary structure, Facies, Infant, medicine.disease, Phenotype, Exon skipping, Child, Preschool, CYFIP2, Mutation, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d0326f688aa9da100d1da43c2778301Test
https://www.research.manchester.ac.uk/portal/en/publications/spatially-clustering-de-novo-variants-in-cyfip2-encoding-the-cytoplasmic-fmrp-interacting-protein-2-cause-intellectual-disability-and-seizuresTest(25ed1309-95f9-4ade-81dd-3ae801258bcc).html

المؤلفون: Kerr, B, Eden, O B, Dandamudi, R, Shannon, N, Quarrell, O, Emmerson, A, Ladusans, E, Gerrard, M, Donnai, D

المصدر: Journal of Medical Genetics ; volume 35, issue 12, page 1036-1039 ; ISSN 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmg.35.12.1036Test

المؤلفون: Kerr, B, Ashcroft, G S, Scott, D, Horan, M A, Ferguson, M W, Donnai, D

المصدر: Journal of Medical Genetics ; volume 33, issue 11, page 928-934 ; ISSN 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmg.33.11.928Test

المؤلفون: Ogle, R, DeSouza, M, Cunningham, C, Kerr, B, Sillence, D

المصدر: Journal of Medical Genetics ; volume 31, issue 3, page 245-247 ; ISSN 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmg.31.3.245Test