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1دورية أكاديمية
المؤلفون: Wright, CF, Prigmore, E, Rajan, D, Handsaker, J, McRae, J, Kaplanis, J, Fitzgerald, TW, FitzPatrick, DR, Firth, HV, Hurles, ME
مصطلحات موضوعية: Child, Cohort Studies, Developmental Disabilities, Exome, Female, Genetic Testing, Genetic Variation, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, Male, Maternal Inheritance, Mosaicism, Parents, Paternal Inheritance, Exome Sequencing
وصف الملف: text/xml; application/pdf; application/zip
الإتاحة: https://doi.org/10.17863/CAM.54703Test
https://www.repository.cam.ac.uk/handle/1810/307614Test -
2دورية أكاديمية
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/
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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.2021.04.025Testمصطلحات 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/ -
4دورية أكاديمية
المؤلفون: Copeland, H, Kivuva, E, Firth, HV, Wright, CF
مصطلحات موضوعية: Child, Developmental Disabilities, Emotions, Female, Genetic Testing, Humans, Pregnancy, Referral and Consultation
وصف الملف: application/pdf; text/xml
الإتاحة: https://doi.org/10.17863/CAM.71043Test
https://www.repository.cam.ac.uk/handle/1810/323584Test -
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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/ddw409Testمصطلحات 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 -
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المؤلفون: 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
المصدر: 2017, ' Prevalence and architecture of de novo mutations in developmental disorders ', Nature, vol. 542, no. 7642, pp. 433-438 . https://doi.org/10.1038/nature21062Test
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/nature21062Test
Natureمصطلحات موضوعية: Male, Parents, Heredity, Developmental Disabilities, GRIN2B, POGZ, Autoantigens, SMAD4, CASK, GATAD2B, 0302 clinical medicine, TRIO, SMARCA2, KCNH1, Average Faces, CTNNB1, SCN1A, Young adult, Casein Kinase II, Child, AUTS2, MEF2C, Exome, ADNP, Exome sequencing, EP300, KCNQ2, KCNQ3, EHMT1, CNKSR2, CREBBP, MYT1L, MED13L, CSNK2A1, Protein Phosphatase 2C, PPP2R1A, ZBTB18, CDKL5, WAC, HNRNPU, Cohort, STXBP1, Medical genetics, SYNGAP1, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Sex characteristics, AHDC1, SCN8A, medicine.medical_specialty, SLC6A1, FOXP1, USP9X, Article, ANKRD11, PUF60, BRAF, 03 medical and health sciences, SATB2, SMC1A, Intellectual Disability, BCL11A, GABRB3, IQSEC2, Humans, TBL1XR1, TCF4, MSL3, TCF20, DNM1, EEF1A2, SUV420H1, DYRK1A, SETD5, COL4A3BP, CTCF, CHD2, R1, CHD4, 030104 developmental biology, NAA10, HDAC8, Mutation, KDM5B, CHAMP1, PhenIcons, 030217 neurology & neurosurgery, Transcription Factors, 0301 basic medicine, ZMYND11, PTEN, De novo mutation, Chromosomal Proteins, Non-Histone, PTPN11, ASXL1, Bioinformatics, medicine.disease_cause, ASXL3, Cohort Studies, DEAD-box RNA Helicases, CHD8, Prevalence, QRICH1, KIF1A, Genetics, Sex Characteristics, GNAI1, Multidisciplinary, WDR45, Middle Aged, KMT2A, PPM1D, MECP2, DNA-Binding Proteins, PPP2R5D, Phenotype, PACS1, ras GTPase-Activating Proteins, DDX3X, Female, FOXG1, SET, Myeloid-Lymphoid Leukemia Protein, Developmental Disease, Adult, KANSL1, Adolescent, NFIX, Nerve Tissue Proteins, PURA, Biology, KAT6B, KAT6A, NSD1, PDHA1, ALG13, Young Adult, Seizures, CDC2 Protein Kinase, medicine, Journal Article, QH426, Homeodomain Proteins, ITPR1, DYNC1H1, GNAO1, Histone-Lysine N-Methyltransferase, Sequence Analysis, DNA, ZC4H2, ARID1B, Repressor Proteins, CNOT3, SCN2A, SLC35A2, CDK13
وصف الملف: application/pdf; text; application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac7e5d7fcf4831a7f999caac0003a6dfTest
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المؤلفون: Caroline F. Wright, Juliet Handsaker, Elena Prigmore, David R. FitzPatrick, Jeremy F. McRae, Helen V. Firth, Diana Rajan, Tomas W Fitzgerald, Joanna Kaplanis, Matthew E. Hurles
المساهمون: Wright, CF [0000-0003-2958-5076], Apollo - University of Cambridge Repository
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
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 2019, ' Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data ', Nature Communications, vol. 10, no. 1, pp. 2985 . https://doi.org/10.1038/s41467-019-11059-2Test
Nature Communicationsمصطلحات موضوعية: 0301 basic medicine, Proband, Male, Parents, Developmental Disabilities, Science, General Physics and Astronomy, 02 engineering and technology, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Cohort Studies, 03 medical and health sciences, Genetic variation, Exome Sequencing, Humans, Exome, Genetic Testing, Sibling, lcsh:Science, Child, Exome sequencing, Genetics, Multidisciplinary, Mosaicism, Haplotype, Neurodevelopmental disorders, Genetic Variation, High-Throughput Nucleotide Sequencing, General Chemistry, 021001 nanoscience & nanotechnology, Penetrance, 3. Good health, 030104 developmental biology, Haplotypes, Cohort, Paternal Inheritance, lcsh:Q, Female, Maternal Inheritance, 0210 nano-technology, Medical genomics
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; text/xml; application/pdf; application/zip
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c62029bcae42f485f649810af4b8bf1Test
https://doaj.org/article/9f635f6cc33c4ec7a9a378410f7206d9Test