المؤلفون: Godfrey, M, Levy, M, Leonardi, E, Campbell, C, Demain, L, Jenkinson, S, Hilton, S, Castillo, BA, Balasubramanian, M, Bijlsma, EK, Burkitt-Wright, E, Cappuccio, G, Chandler, K, Devriendt, K, Haanpää, M, Hörnig, C, Jones, EA, Kocagil, S, Koillinen, H, Narayanan, DL, Madhu, R, Majethia, P, Murgia, A, Rosser, E, Schülke-Gerstenfeld, M, Shukla, A, Soengas-Gonda, E, Sznajer, Y, Venancio, MM, Wright, T, Gokhale, D, Sadikovic, B, Houge, SD, Banka, S

المصدر: Godfrey , M , Levy , M , Leonardi , E , Campbell , C , Demain , L , Jenkinson , S , Hilton , S , Castillo , BA , Balasubramanian , M , Bijlsma , EK , Burkitt-Wright , E , Cappuccio , G , Chandler , K , Devriendt , K , Haanpää , M , Hörnig , C , Jones , EA , Kocagil , S , Koillinen , H , Narayanan , DL , Madhu , R , Majethia , P , Murgia , A , Rosser , E , Schülke-Gerstenfeld , M ....

العلاقة: https://research.manchester.ac.uk/en/publications/811c4cc3-0812-4531-9327-340b6cfde870Test

الإتاحة: https://research.manchester.ac.uk/en/publications/811c4cc3-0812-4531-9327-340b6cfde870Test
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001147414903411&DestLinkType=FullRecord&DestApp=WOS_CPLTest
https://www.nature.com/articles/s41431-023-01482-x#Sec2009Test

المؤلفون: Harkness, R, McDermott, J, Metcalfe, K, Macken, W, Sabir, A, Santra, S, Urquhart, J, Demain, L, Maroofian, R, Zamani, M, Record, C, Yue, W, Byers, HJ, Pitceathly, R, Taylor, R, Banka, S, Reilly, MM, O'Keefe, R, Newman, W

المصدر: Harkness , R , McDermott , J , Metcalfe , K , Macken , W , Sabir , A , Santra , S , Urquhart , J , Demain , L , Maroofian , R , Zamani , M , Record , C , Yue , W , Byers , HJ , Pitceathly , R , Taylor , R , Banka , S , Reilly , MM , O'Keefe , R & Newman , W 2024 , ' P10.016.D Biallelic variants in RCC1 result in fever associated axonal neuropathy with encephalopathy ' , European Journal of Human Genetics , ....

العلاقة: https://research.manchester.ac.uk/en/publications/132d7f4f-1854-49ae-8492-f00853e4a93eTest

الإتاحة: https://research.manchester.ac.uk/en/publications/132d7f4f-1854-49ae-8492-f00853e4a93eTest
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001147414902357&DestLinkType=FullRecord&DestApp=WOS_CPLTest
https://www.nature.com/articles/s41431-023-01482-x#Sec696Test

المؤلفون: Dayimu, A, Gupta, A, Matin, RN, Nobes, J, Board, R, Payne, M, Rao, A, Fusi, A, Danson, S, Eccles, B, Carser, J, Brown, CO, Steven, N, Bhattacharyya, M, Brown, E, Gonzalez, M, Highley, M, Pickering, L, Kumar, S, Waterston, A, Burghel, G, Demain, L, Baker, E, Wulff, J, Qian, W, Twelves, S, Middleton, M, Corrie, P

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/116450/1/INTERIM%20FINAL%20DRAFT.docxTest; Dayimu, A; Gupta, A; Matin, RN; Nobes, J; Board, R; Payne, M; Rao, A; Fusi, A; Danson, S; Eccles, B; et al. Dayimu, A; Gupta, A; Matin, RN; Nobes, J; Board, R; Payne, M; Rao, A; Fusi, A; Danson, S; Eccles, B; Carser, J; Brown, CO; Steven, N; Bhattacharyya, M; Brown, E; Gonzalez, M; Highley, M; Pickering, L; Kumar, S; Waterston, A; Burghel, G; Demain, L; Baker, E; Wulff, J; Qian, W; Twelves, S; Middleton, M; Corrie, P (2024) A randomised phase 2 study of intermittent versus continuous dosing of dabrafenib plus trametinib in patients with BRAFV600 mutant advanced melanoma (INTERIM). Eur J Cancer, 196. p. 113455. ISSN 1879-0852 https://doi.org/10.1016/j.ejca.2023.113455Test SGUL Authors: Fusi, Alberto

الإتاحة: https://doi.org/10.1016/j.ejca.2023.113455Test
https://openaccess.sgul.ac.uk/id/eprint/116450Test/
https://openaccess.sgul.ac.uk/id/eprint/116450/1/INTERIM%20FINAL%20DRAFT.docxTest

المؤلفون: Dayimu, A., Gupta, A., Matin, R.N., Nobes, J., Board, R., Payne, M., Rao, A., Fusi, A., Danson, S., Eccles, B., Carser, J., Brown, C.O., Steven, N., Bhattacharyya, M., Brown, E., Gonzalez, M., Highley, M., Pickering, L., Kumar, S., Waterston, A., Burghel, G., Demain, L., Baker, E., Wulff, J., Qian, W., Twelves, S., Middleton, M., Corrie, P.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/206919/7/EJC-D-23-02078_R1.pdfTest; Dayimu, A. orcid.org/0000-0001-9998-7463 , Gupta, A., Matin, R.N. et al. (25 more authors) (2024) A randomised phase 2 study of intermittent versus continuous dosing of dabrafenib plus trametinib in patients with BRAFV600 mutant advanced melanoma (INTERIM). European Journal of Cancer, 196. 113455. ISSN 0959-8049

الإتاحة: https://eprints.whiterose.ac.uk/206919Test/
https://eprints.whiterose.ac.uk/206919/7/EJC-D-23-02078_R1.pdfTest

المؤلفون: Kerkhof, J, Rastin, C, Levy, MA, Relator, R, McConkey, H, Demain, L, Dominguez-Garrido, E, Kaat, LD, Houge, SD, DuPont, BR, Fee, T, Gokhale, D, Haukanes, BI, Henneman, P, Hilton, BA, Louie, RJ, Motazacker, MM, Rzasa, J, Plomp, A, van der Laan, L, van der Smagt, J, Walden, KK, Banka, S, Mannens, M, Skinner, SA, Friez, MJ, Tedder, ML, Alders, M, Sadikovic, B

المصدر: Kerkhof , J , Rastin , C , Levy , MA , Relator , R , McConkey , H , Demain , L , Dominguez-Garrido , E , Kaat , LD , Houge , SD , DuPont , BR , Fee , T , Gokhale , D , Haukanes , BI , Henneman , P , Hilton , BA , Louie , RJ , Motazacker , MM , Rzasa , J , Plomp , A , van der Laan , L , van der Smagt , J , Walden , KK , Banka , S , Mannens , M ....

مصطلحات موضوعية: DNA methylation, EpiSign, Episignature, Molecular diagnostics, VUS classi fi cation

العلاقة: https://research.manchester.ac.uk/en/publications/392b223a-877d-4c89-ba37-a44eac3d0adcTest

الإتاحة: https://doi.org/10.1016/j.gim.2024.101075Test
https://research.manchester.ac.uk/en/publications/392b223a-877d-4c89-ba37-a44eac3d0adcTest
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001204147500001&DestLinkType=FullRecord&DestApp=WOS_CPLTest

المؤلفون: LaFlamme, CW, Rastin, C, Sengupta, S, Pennington, HE, Russ-Hall, SJ, Schneider, AL, Bonkowski, ES, Almanza Fuerte, EP, Galey, M, Goffena, J, Gibson, SB, Allan, TJ, Nyaga, DM, Lieffering, N, Hebbar, M, Walker, EV, Darnell, D, Olsen, SR, Kolekar, P, Djekidel, N, Rosikiewicz, W, McConkey, H, Kerkhof, J, Levy, MA, Relator, R, Lev, D, Lerman-Sagie, T, Park, KL, Alders, M, Cappuccio, G, Chatron, N, Demain, L, Genevieve, D, Lesca, G, Roscioli, T, Sanlaville, D, Tedder, ML, Hubshman, MW, Ketkar, S, Dai, H, Worley, KC, Rosenfeld, JA, Chao, H-T, Undiagnosed Diseases Network, Neale, G, Carvill, GL, University of Washington Center for Rare Disease Research, Wang, Z, Berkovic, SF, Sadleir, LG, Miller, DE, Scheffer, IE, Sadikovic, B, Mefford, HC

العلاقة: NHMRC/1172897; NHMRC/2010562; pii: 2023.10.11.23296741; LaFlamme, C. W., Rastin, C., Sengupta, S., Pennington, H. E., Russ-Hall, S. J., Schneider, A. L., Bonkowski, E. S., Almanza Fuerte, E. P., Galey, M., Goffena, J., Gibson, S. B., Allan, T. J., Nyaga, D. M., Lieffering, N., Hebbar, M., Walker, E. V., Darnell, D., Olsen, S. R., Kolekar, P. ,. Mefford, H. C. (2023). Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature. medRxiv, 4 (10-23), pp.2023.10.11.23296741-. https://doi.org/10.1101/2023.10.11.23296741Test.; http://hdl.handle.net/11343/343960Test

الإتاحة: https://doi.org/10.1101/2023.10.11.23296741Test
http://hdl.handle.net/11343/343960Test

المؤلفون: Gupta, A., Matin, R.N., Dayimu, A., Nobes, J., Board, R.E., Payne, M., Rao, A.R., Fusi, A., Danson, S., Eccles, B.K., Carser, J., O'Hanlon Brown, C., Steven, N., Burghel, G.J., Demain, L., Baker, E.C., Wulff, J., Twelves, S., Middleton, M.R., Corrie, P.G.

المصدر: Annals of Oncology ; volume 34, page S669-S670 ; ISSN 0923-7534

مصطلحات موضوعية: Oncology, Hematology

الإتاحة: https://doi.org/10.1016/j.annonc.2023.09.2245Test
https://api.elsevier.com/content/article/PII:S092375342303082X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S092375342303082X?httpAccept=text/plainTest

المؤلفون: Demain, L A M, Antunes, D, O'Sullivan, J, Bhaskhar, S S, O'Keefe, R T, Newman, W G

المصدر: Demain , L A M , Antunes , D , O'Sullivan , J , Bhaskhar , S S , O'Keefe , R T & Newman , W G 2018 , ' A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects ' , Clinical Genetics . https://doi.org/10.1111/cge.13255Test

مصطلحات موضوعية: Letter

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الإتاحة: https://doi.org/10.1111/cge.13255Test
https://research.manchester.ac.uk/en/publications/6224dcb5-6712-4a84-be91-d0355385f6b2Test
https://pure.manchester.ac.uk/ws/files/69508394/RMND1_PS_Letter_Revised_15Mar2018.docxTest

المؤلفون: Demain, L A M, Conway, G S, Newman, William

المصدر: Demain , L A M , Conway , G S & Newman , W 2017 , ' Genetics of mitochondrial dysfunction and infertility ' , Clinical Genetics , vol. 91 , no. 2 , pp. 199-207 . https://doi.org/10.1111/cge.12896Test

مصطلحات موضوعية: DNA Polymerase gamma, DNA-Directed DNA Polymerase, Female, Humans, Infertility, Male, Mitochondria, Oocytes, Reproductive Techniques, Assisted, Spermatozoa, Journal Article, Review

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الإتاحة: https://doi.org/10.1111/cge.12896Test
https://research.manchester.ac.uk/en/publications/d9ee3989-7053-4a3e-8bbb-6dec13797622Test
https://pure.manchester.ac.uk/ws/files/65057642/Genetics_of_Mitochondrial_dysfunction_and_infertility_.docxTest

المؤلفون: Faridi, R., Rehman, A.U., Morell, R.J., Friedman, P.L., Demain, L., Zahra, S., Khan, A.A., Tohlob, D., Assir, M.Z., Beaman, G., Khan, S.N., Newman, W.G., Riazuddin, S., Friedman, T.B.

المساهمون: National Institute on Deafness and Other Communication Disorders, Higher Education Commission, Pakistan, Action on Hearing Loss, National Institutes of Health, University of Manchester

المصدر: Clinical Genetics ; volume 91, issue 2, page 328-332 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.12867Test