المؤلفون: Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de Boer, E, Danecek, P, Gardner, EJ, Huang, N, Lord, J, Martincorena, I, Pfundt, R, Reijnders, MRF, Yeung, A, Yntema, HG, Deciphering Developmental Disorders Study, ., Vissers, LELM, Juusola, J, Wright, CF, Brunner, HG, Firth, HV, FitzPatrick, DR, Barrett, JC, Hurles, ME, Gilissen, C, Retterer, K

المصدر: Nature , 586 (7831) pp. 757-762. (2020)

مصطلحات موضوعية: Cohort Studies, DNA Copy Number Variations, DNA Mutational Analysis, Data Analysis, Databases, Genetic, Datasets as Topic, Delivery of Health Care, Developmental Disabilities, Europe, Female, Genetic Diseases, Inborn, Germ-Line Mutation, Haploinsufficiency, Humans, Male, Mutation, Missense, Penetrance, Perinatal Death, Sample Size

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10133185/1/Ryten_797787v3.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10133185Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10133185/1/Ryten_797787v3.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10133185Test/

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: Evers, JMG, Laskowski, RA, Bertolli, M, Clayton-Smith, J, Deshpande, C, Eason, J, Elmslie, F, Flinter, F, Gardiner, C, Hurst, JA, Kingston, H, Kini, U, Lampe, AK, Lim, D, Male, A, Naik, S, Parker, MJ, Price, S, Robert, L, Sarkar, A, Straub, V, Woods, G, Thornton, JM, DDD Study, Wright, CF

المصدر: Human Molecular Genetics
Evers, J M G, Laskowski, R A, Bertolli, M, Clayton-Smith, J, Deshpande, C, Eason, J, Elmslie, F, Flinter, F, Gardiner, C, Hurst, J A, Kingston, H, Kini, U, Lampe, A K, Lim, D, Male, A, Naik, S, Parker, M J, Price, S, Robert, L, Sarkar, A, Straub, V, Woods, G, Thornton, J M, The DDD Study & Wright, C F 2017, ' Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders ', Human Molecular Genetics, vol. 26, no. 3, pp. 519-526 . https://doi.org/10.1093/hmg/ddw409Test

مصطلحات موضوعية: 0301 basic medicine, Male, DYRK1A, Protein Conformation, Developmental Disabilities, Mutation, Missense, Haploinsufficiency, Biology, Protein Serine-Threonine Kinases, medicine.disease_cause, DYRK1A Gene, 03 medical and health sciences, Structure-Activity Relationship, 0302 clinical medicine, Intellectual Disability, Genetics, medicine, Missense mutation, Humans, Autistic Disorder, Molecular Biology, Gene, Genetics (clinical), Mutation, General Medicine, Articles, Protein-Tyrosine Kinases, Phenotype, Pedigree, 030104 developmental biology, Protein kinase domain, Female, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c67da18768fd45722d73b13bfa4f3ab2Test
http://europepmc.org/articles/PMC5409128Test