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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: lam t. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: lam t. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
A recent surge of fulminant and early onset subacute sclerosing panencephalitis (SSPE) in the United Kingdom: An emergence in a time of measles.
Lam T, Ranjan R, Newark K, Surana S, Bhangu N, Lazenbury A, Childs AM, Abbey I, Gibbon F, Thomas G, Singh J, Prabhakar P, Kaminska M, Lascelles K, Hacohen Y, Brown K, Lim M. Lam T, et al. Eur J Paediatr Neurol. 2021 Sep;34:43-49. doi: 10.1016/j.ejpn.2021.07.006. Epub 2021 Jul 16. Eur J Paediatr Neurol. 2021. PMID: 34388650
Long-Term Persistence of Spike Protein Antibody and Predictive Modeling of Antibody Dynamics After Infection With Severe Acute Respiratory Syndrome Coronavirus 2.
Grandjean L, Saso A, Torres Ortiz A, Lam T, Hatcher J, Thistlethwayte R, Harris M, Best T, Johnson M, Wagstaffe H, Ralph E, Mai A, Colijn C, Breuer J, Buckland M, Gilmour K, Goldblatt D; COVID-19 Staff Testing of Antibody Responses Study (Co-Stars) team. Grandjean L, et al. Among authors: lam t. Clin Infect Dis. 2022 Apr 9;74(7):1220-1229. doi: 10.1093/cid/ciab607. Clin Infect Dis. 2022. PMID: 34218284 Free PMC article.
Eco-climate drivers shape virome diversity in a globally invasive tick species.
Ni XB, Pei Y, Ye YT, Shum MH, Cui XM, Wu YQ, Phillips PM, Zhao L, Wang GP, Wei JT, Fan JL, Wang Q, Smith DK, Sun Y, Du LF, Zhang J, Jiang JF, He PJ, Chen X, Wei H, Zhao NQ; Microbiome Consortium (TIGMIC); Genome T, Cao WC, Lam TT, Jia N. Ni XB, et al. Among authors: lam tt. ISME J. 2024 May 15:wrae087. doi: 10.1093/ismejo/wrae087. Online ahead of print. ISME J. 2024. PMID: 38747389
Teaching prudent antibiotic use on the go: a descriptive report on development, utilization and listener satisfaction of an educational podcast format for medical students and young professionals.
Schneider S, Bergmann C, Becker F, Risse L, Isner C, Stocker H, Feufel MA, Röhrig A, Kurzai O, Lâm TT, Hagel S, Pletz MW, Gastmeier P, Wiese-Posselt M. Schneider S, et al. Among authors: lam tt. Antimicrob Resist Infect Control. 2024 May 11;13(1):50. doi: 10.1186/s13756-024-01402-8. Antimicrob Resist Infect Control. 2024. PMID: 38734660 Free PMC article.
3,665 results