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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Among authors: freson k. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, Lindsey A, Itani O, Böhme AL, Tibbe D, Hönck HH, Hassani Nia F; Undiagnosed Diseases Network; Zech M, Brunet T, Faivre L, Sorlin A, Vitobello A, Smol T, Colson C, Baranano K, Schatz K, Bayat A, Schoch K, Spillmann R, Davis EE, Conboy E, Vetrini F, Platzer K, Neuser S, Gburek-Augustat J, Grace AN, Mitchell B, Stegmann A, Sinnema M, Meeks N, Saunders C, Cadieux-Dion M, Hoyer J, Van-Gils J, de Sainte-Agathe JM, Thompson ML, Bebin EM, Weisz-Hubshman M, Tabet AC, Verloes A, Levy J, Latypova X, Harder S, Silverman GA, Pak SC, Schedl T, Freson K, Mumford A, Turro E, Schlein C, Shashi V, Kreienkamp HJ. Willim J, et al. Among authors: freson k. Nat Commun. 2024 Sep 10;15(1):7909. doi: 10.1038/s41467-024-52095-x. Nat Commun. 2024. PMID: 39256359 Free PMC article.
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Accogli A, et al. Among authors: freson k. Genet Med. 2024 May;26(5):101097. doi: 10.1016/j.gim.2024.101097. Epub 2024 Feb 5. Genet Med. 2024. PMID: 38334070 Free article.
Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy.
Greene D, De Wispelaere K, Lees J, Katrinecz A, Pascoal S, Hales E, Codina-Solà M, Valenzuela I, Tizzano EF, Atton G, Donnelly D, Foulds N, Jarvis J, McKee S, O'Donoghue M, Suri M, Vasudevan P, Stirrups K, Morgan NP, Freson K, Mumford AD, Turro E. Greene D, et al. Among authors: freson k. medRxiv [Preprint]. 2024 Sep 4:2024.09.03.24312863. doi: 10.1101/2024.09.03.24312863. medRxiv. 2024. PMID: 39281759 Free PMC article. Preprint.
Prospective, international, multisite comparison of platelet isolation techniques for genome-wide transcriptomics: communication from the SSC of the ISTH.
Banerjee M, Rowley JW, Stubben CJ, Tolley ND, Freson K, Nelson B, Nagy B Jr, Fejes Z, Blair AM, Turro E, Gresele P, Taranta GC, Bury L, Falcinelli E, Lordkipanidzé M, Alessi MC, Johnson AD, Bakchoul T, Ramstrom S, Frontini M, Camera M, Brambilla M, Campbell RA, Rondina MT. Banerjee M, et al. Among authors: freson k. J Thromb Haemost. 2024 Oct;22(10):2922-2934. doi: 10.1016/j.jtha.2024.06.017. Epub 2024 Jul 3. J Thromb Haemost. 2024. PMID: 38969303 Free article.
Human genetics implicate thromboembolism in the pathogenesis of long COVID in individuals of European ancestry.
Schuermans A, Verstraete A, Lammi V, Nakanishi T, Ardissino M, Van den Eynde J, Sun B, Georgakis MK, Guillen-Guio B, Wain LV, Brightling CE; PHOSP-COVID Collaborative Group; Van Weyenbergh J, Lewandowski AJ, Raman B, Zeberg H, Ollila HM, Burgess S, Natarajan P, Honigberg MC, Freson K, Vanassche T, Verhamme P. Schuermans A, et al. Among authors: freson k. medRxiv [Preprint]. 2024 Dec 12:2024.05.17.24307553. doi: 10.1101/2024.05.17.24307553. medRxiv. 2024. PMID: 38798608 Free PMC article. Preprint.
Thrombophilia Testing: from Genetic Predisposition to Discrimination.
Verstraete A, Freson K, Verhamme P, Vanassche T. Verstraete A, et al. Among authors: freson k. TH Open. 2024 Apr 8;8(2):e177-e180. doi: 10.1055/a-2284-4285. eCollection 2024 Apr. TH Open. 2024. PMID: 38596262 Free PMC article. No abstract available.
176 results