المؤلفون: Janssen, B. D. E., van den Boogaard, M. H., Lichtenbelt, K., Seaby, E. G., Stals, K., Ellard, S., Newbury-Ecob, R., Dixit, A., Roht, L., Pajusalu, S., Õunap, K., Firth, H. V., Buckley, M., Wilson, M., Roscioli, T., Tidwell, T., Mao, R., Ennis, S., Holwerda, S. J., van Gassen, K., van Jaarsveld, R. H.

مصطلحات موضوعية: Tfiid, human genetics, mendelian disorders, neurodevelopmental disorder

العلاقة: https://doi.org/10.1002/humu.24444Test; Hum Mutat. 2022 Jul 29. doi:10.1002/humu.24444.; https://rde.dspace-express.com/handle/11287/622579Test; Human mutation

الإتاحة: https://doi.org/10.1002/humu.24444Test
https://rde.dspace-express.com/handle/11287/622579Test

المؤلفون: DiStefano, M. T., Goehringer, S., Babb, L., Alkuraya, F. S., Amberger, J., Amin, M., Austin-Tse, C., Balzotti, M., Berg, J. S., Birney, E., Bocchini, C., Bruford, E. A., Coffey, A. J., Collins, H., Cunningham, F., Daugherty, L. C., Einhorn, Y., Firth, H. V., Fitzpatrick, D. R., Foulger, R. E., Goldstein, J., Hamosh, A., Hurles, M. R., Leigh, S. E., Leong, I. U. S., Maddirevula, S., Martin, C. L., McDonagh, E. M., Olry, A., Puzriakova, A., Radtke, K., Ramos, E. M., Rath, A., Riggs, E. R., Roberts, A. M., Rodwell, C., Snow, C., Stark, Z., Tahiliani, J., Tweedie, S., Ware, J. S., Weller, P., Williams, E., Wright, C. F., Yates, T. M., Rehm, H. L.

مصطلحات موضوعية: Databases, Genetic, Genetic Testing, Genetic Variation, Genomics, Humans, Database, GenCC, Gene curation, Genetic diagnosis

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00746-8; Genet Med. 2022 Aug;24(8):1732-1742. doi:10.1016/j.gim.2022.04.017. Epub 2022 May 4.; https://rde.dspace-express.com/handle/11287/622659Test; Genetics in medicine; PMC7613247

الإتاحة: https://doi.org/10.1016/j.gim.2022.04.017Test
https://rde.dspace-express.com/handle/11287/622659Test

المؤلفون: Wright, C. F., Prigmore, E., Rajan, D., Handsaker, J., McRae, J., Kaplanis, J., Fitzgerald, T. W., FitzPatrick, D. R., Firth, H. V., Hurles, M. E.

المصدر: Nature Communications ; volume 13, issue 1 ; ISSN 2041-1723

مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41467-022-33386-7Test
https://www.nature.com/articles/s41467-022-33386-7.pdfTest
https://www.nature.com/articles/s41467-022-33386-7Test

المؤلفون: Wright, C. F., Quaife, N. M., Ramos-Hernández, L., Danecek, P., Ferla, M. P., Samocha, K. E., Kaplanis, J., Gardner, E. J., Eberhardt, R. Y., Chao, K. R., Karczewski, K. J., Morales, J., Gallone, G., Balasubramanian, M., Banka, S., Gompertz, L., Kerr, B., Kirby, A., Lynch, S. A., Morton, J. E. V., Pinz, H., Sansbury, F. H., Stewart, H., Zuccarelli, B. D., Cook, S. A., Taylor, J. C., Juusola, J., Retterer, K., Firth, H. V., Hurles, M. E., Lara-Pezzi, E., Barton, P. J. R., Whiffin, N.

مصطلحات موضوعية: 5' Untranslated Regions, Child, Cohort Studies, DNA Copy Number Variations, Developmental Disabilities/*etiology/pathology, Genetic Predisposition to Disease, Humans, Loss of Function Mutation, MEF2 Transcription Factors/genetics, Whole Exome Sequencing, developmental disorders, clinical genetic testing, non-coding region variants, 5', UTR variants

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(21)00184-1; Wright, C. F., Quaife, N. M., Ramos-Hernández, L., Danecek, P., Ferla, M. P., Samocha, K. E., Kaplanis, J., Gardner, E. J., Eberhardt, R. Y., Chao, K. R., Karczewski, K. J., Morales, J., Gallone, G., Balasubramanian, M., Banka, S., Gompertz, L., Kerr, B., Kirby, A., Lynch, S. A., Morton, J. E. V., Pinz, H., Sansbury, F. H., Stewart, H., Zuccarelli, B. D., Cook, S. A., Taylor, J. C., Juusola, J., Retterer, K., Firth, H. V., Hurles, M. E., Lara-Pezzi, E., Barton, P. J. R. and Whiffin, N. (2021) 'Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms', American Journal of Human Genetics, 108(6), pp. 1083-1094.; American Journal of Human Genetics; PMC8206381; https://hdl.handle.net/11287/621979Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.04.025Test
https://hdl.handle.net/11287/621979Test

المؤلفون: Gardner, E. J., Sifrim, A., Lindsay, S. J., Prigmore, E., Rajan, D., Danecek, P., Gallone, G., Eberhardt, R. Y., Martin, H. C., Wright, C. F., FitzPatrick, D. R., Firth, H. V., Hurles, M. E.

مصطلحات موضوعية: Child, Developmental Disabilities/*diagnosis/*genetics, Female, Humans, Male, Methyl-CpG-Binding Protein 2/genetics, Whole Exome Sequencing/*methods, bioinformatics, developmental disorders, diagnostics, insertions/deletions, structural variation

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(21)00346-3; Am J Hum Genet. 2021 Nov 4;108(11):2186-2194. doi:10.1016/j.ajhg.2021.09.010. Epub 2021 Oct 8.; https://rde.dspace-express.com/handle/11287/622274Test; American journal of human genetics; PMC8595893

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.09.010Test
https://rde.dspace-express.com/handle/11287/622274Test

المؤلفون: 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., Hampstead, J., Kaplanis, J., Samocha, K. E., Middleton, A., Foreman, J., Hobson, R. J., Parker, M. J., Martin, H. C., FitzPatrick, D. R., Hurles, M. E., Firth, H. V.

مصطلحات موضوعية: Child, Humans, Exome, Genomics, Ireland/epidemiology, United Kingdom/epidemiology, Rare Diseases/diagnosis/epidemiology/genetics, Oligonucleotide Array Sequence Analysis, Genetic Association Studies, Neurodevelopmental Disorders/diagnosis/genetics, Congenital Abnormalities/diagnosis/genetics, Growth Disorders/diagnosis/genetics, Facies, Child Behavior Disorders/diagnosis/genetics, Genetic Diseases, Inborn/diagnosis/genetics

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/37043637Test/; Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, et al. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland. The New England journal of medicine. 2023;388(17):1559-71.; The New England journal of medicine; PMC7614484; https://hdl.handle.net/11287/623016Test

الإتاحة: https://doi.org/10.1056/NEJMoa2209046Test
https://hdl.handle.net/11287/623016Test

المؤلفون: Aitken, S., Firth, H. V., Wright, C. F., Hurles, M. E., FitzPatrick, D. R., Semple, C. A.

مصطلحات موضوعية: developmental disease, developmental milestones, genetic diagnosis, genotype, growth, human phenotype ontology, phenotype

العلاقة: HGG Adv. 2022 Nov 24;4(1):100162. doi:10.1016/j.xhgg.2022.100162. eCollection 2023 Jan 12.; HGG advances; PMC9763511; https://hdl.handle.net/11287/622841Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2022.100162Test
https://hdl.handle.net/11287/622841Test

المؤلفون: Wright, C. F., Prigmore, E., Rajan, D., Handsaker, J., McRae, J., Kaplanis, J., Fitzgerald, T. W., FitzPatrick, D. R., Firth, H. V., Hurles, M. E.

المساهمون: Wellcome Trust

المصدر: Nature Communications ; volume 10, issue 1 ; ISSN 2041-1723

مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41467-019-11059-2Test
https://www.nature.com/articles/s41467-019-11059-2.pdfTest
https://www.nature.com/articles/s41467-019-11059-2Test

المؤلفون: Yates, T. M., Turner, C. L. S., Firth, H. V., Berg, J., Pilz, D. T.

المصدر: Yates , T M , Turner , C L S , Firth , H V , Berg , J & Pilz , D T 2017 , ' Baraitser-Winter cerebrofrontofacial syndrome ' , Clinical Genetics , vol. 92 , no. 1 , pp. 3-9 . https://doi.org/10.1111/cge.12864Test

مصطلحات موضوعية: ACTB, ACTG1, Baraitser-Winter Cerebrofrontofacial Syndrome, Baraitser-Winter Syndrome, Coloboma, Pachygyria

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/65a098ee-d53f-472f-b21e-fd2c0b45b262Test

الإتاحة: https://doi.org/10.1111/cge.12864Test
https://discovery.dundee.ac.uk/en/publications/65a098ee-d53f-472f-b21e-fd2c0b45b262Test
https://discovery.dundee.ac.uk/ws/files/10356538/Yates_et_al_2016_Clinical_Genetics.pdfTest

المؤلفون: Balasubramanian, M., Willoughby, J., Fry, A. E., Weber, A., Firth, H. V., Deshpande, C., Berg, J. N., Chandler, K., Metcalfe, K. A., Lam, W., Pilz, D., Tomkins, S.

المصدر: Balasubramanian , M , Willoughby , J , Fry , A E , Weber , A , Firth , H V , Deshpande , C , Berg , J N , Chandler , K , Metcalfe , K A , Lam , W , Pilz , D , Tomkins , S & Deciphering Developmental Disorders (DDD) Study 2017 , ' Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome : 12 new patients with de novo , heterozygous, loss-of-function mutations in ASXL3 and review of published literature ' , Journal of Medical Genetics , vol. 54 , no. 8 , pp. ....

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/8f8c6144-88b7-41fa-b8b6-2ecc1ec44778Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2016-104360Test
https://discovery.dundee.ac.uk/en/publications/8f8c6144-88b7-41fa-b8b6-2ecc1ec44778Test
https://discovery.dundee.ac.uk/ws/files/11927922/ASXL3_New_Draft_Revision_v1_2_29.11.16_Untracked_changes_Clean_Copy.pdfTest