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64 results

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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. 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.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Schäffer AA, Hammarström L, Thrasher AJ, Gaspar HB, Grimbacher B. Salzer U, et al. Among authors: bacchelli c. Blood. 2009 Feb 26;113(9):1967-76. doi: 10.1182/blood-2008-02-141937. Epub 2008 Nov 3. Blood. 2009. PMID: 18981294 Free PMC article.
Toward personalized medicine in Bardet-Biedl syndrome.
Kenny J, Forsythe E, Beales P, Bacchelli C. Kenny J, et al. Among authors: bacchelli c. Per Med. 2017 Sep;14(5):447-456. doi: 10.2217/pme-2017-0019. Epub 2017 Sep 4. Per Med. 2017. PMID: 29754569 Review.
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma.
Minskaia E, Maimaris J, Jenkins P, Albuquerque AS, Hong Y, Eleftheriou D, Gilmour KC, Grace R, Moreira F, Grimbacher B; NIHR Bioresource-Rare Diseases Consortium; Morris EC, Burns SO. Minskaia E, et al. J Clin Immunol. 2023 Oct;43(7):1611-1622. doi: 10.1007/s10875-023-01530-7. Epub 2023 Jun 14. J Clin Immunol. 2023. PMID: 37316763 Free PMC article.
Managing Bardet-Biedl Syndrome-Now and in the Future.
Forsythe E, Kenny J, Bacchelli C, Beales PL. Forsythe E, et al. Among authors: bacchelli c. Front Pediatr. 2018 Feb 13;6:23. doi: 10.3389/fped.2018.00023. eCollection 2018. Front Pediatr. 2018. PMID: 29487844 Free PMC article. Review.
Can Surgery for Inflammatory Bowel Disease be Personalized?
Spinelli A, Marano A, Bacchelli C, Mariani NM, Montorsi M, Kotze PG. Spinelli A, et al. Among authors: bacchelli c. Curr Drug Targets. 2018;19(7):798-804. doi: 10.2174/1389450118666170105153646. Curr Drug Targets. 2018. PMID: 28068895 Free article. Review.
Perinatal systemic gene delivery using adeno-associated viral vectors.
Karda R, Buckley SM, Mattar CN, Ng J, Massaro G, Hughes MP, Kurian MA, Baruteau J, Gissen P, Chan JK, Bacchelli C, Waddington SN, Rahim AA. Karda R, et al. Among authors: bacchelli c. Front Mol Neurosci. 2014 Nov 14;7:89. doi: 10.3389/fnmol.2014.00089. eCollection 2014. Front Mol Neurosci. 2014. PMID: 25452713 Free PMC article. Review.
64 results