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Page 1
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Wei W, Pagnamenta AT, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams CA; Genomics England Research Consortium; NIHR BioResource; Fratter C, Turro E, Caulfield MJ, Taylor JC, Rahman S, Chinnery PF. Wei W, et al. Among authors: odhams ca. Nat Commun. 2020 Apr 8;11(1):1740. doi: 10.1038/s41467-020-15336-3. Nat Commun. 2020. PMID: 32269217 Free PMC article.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Morsy H, et al. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. Genet Med. 2023. PMID: 36331550 Free PMC article.
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken WL, Falabella M, McKittrick C, Pizzamiglio C, Ellmers R, Eggleton K, Woodward CE, Patel Y, Labrum R; Genomics England Research Consortium; Phadke R, Reilly MM, DeVile C, Sarkozy A, Footitt E, Davison J, Rahman S, Houlden H, Bugiardini E, Quinlivan R, Hanna MG, Vandrovcova J, Pitceathly RDS. Macken WL, et al. Nat Commun. 2022 Nov 7;13(1):6324. doi: 10.1038/s41467-022-32908-7. Nat Commun. 2022. PMID: 36344503 Free PMC article.
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
Pagnamenta AT, Yu J, Evans J, Twiss P; Genomics England Research Consortium; Musculoskeletal GeCIP MDT; Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF, Taylor JC. Pagnamenta AT, et al. J Med Genet. 2023 May;60(5):505-510. doi: 10.1136/jmg-2022-108753. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411030 Free PMC article.
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O, Lesurf R; Genomics England Research Consortium; Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L, Oechslin E, Mital S. Akinrinade O, et al. J Cardiovasc Transl Res. 2023 Dec;16(6):1287-1302. doi: 10.1007/s12265-023-10411-8. Epub 2023 Jul 21. J Cardiovasc Transl Res. 2023. PMID: 37477868 Free PMC article.
Origins and impact of extrachromosomal DNA.
Bailey C, Pich O, Thol K, Watkins TBK, Luebeck J, Rowan A, Stavrou G, Weiser NE, Dameracharla B, Bentham R, Lu WT, Kittel J, Yang SYC, Howitt BE, Sharma N, Litovchenko M, Salgado R, Hung KL, Cornish AJ, Moore DA, Houlston RS, Bafna V, Chang HY, Nik-Zainal S, Kanu N, McGranahan N; Genomics England Consortium; Flanagan AM, Mischel PS, Jamal-Hanjani M, Swanton C. Bailey C, et al. Nature. 2024 Nov;635(8037):193-200. doi: 10.1038/s41586-024-08107-3. Epub 2024 Nov 6. Nature. 2024. PMID: 39506150 Free PMC article.
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.
Leong IUS, Cabrera CP, Cipriani V, Ross PJ, Turner RM, Stuckey A, Sanghvi S, Pasko D, Moutsianas L, Odhams CA, Elgar GS, Chan G, Giess A, Walker S, Foulger RE, Williams EM, Daugherty LC, Rueda-Martin A, Rhodes DJ, Niblock O, Pickard A, Marks L, Leigh SEA, Welland MJ, Bleda M, Snow C, Deans Z, Murugaesu N, Scott RH, Barnes MR, Brown MA, Rendon A, Hill S, Sosinsky A, Caulfield MJ, McDonagh EM. Leong IUS, et al. Among authors: odhams ca. J Clin Oncol. 2024 Oct 31:JCO2302761. doi: 10.1200/JCO.23.02761. Online ahead of print. J Clin Oncol. 2024. PMID: 39481076
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. J Med Genet. 2024 Jun 20;61(7):689-698. doi: 10.1136/jmg-2023-109728. J Med Genet. 2024. PMID: 38458752 Free PMC article.
89 results