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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.
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.
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.
The influence of time on the sensitivity of SARS-CoV-2 serological testing.
Torres Ortiz A, Fenn Torrente F, Twigg A, Hatcher J, Saso A, Lam T, Johnson M, Wagstaffe H, Dhillon R, Mai AL, Goldblatt D, Still R, Buckland M, Gilmour K, Grandjean L. Torres Ortiz A, et al. Among authors: lam t. Sci Rep. 2022 Jun 22;12(1):10517. doi: 10.1038/s41598-022-14351-2. Sci Rep. 2022. PMID: 35732870 Free PMC article.
Socioeconomic and Demographic Risk Factors for SARS-CoV-2 Seropositivity Among Healthcare Workers in a UK Hospital: A Prospective Cohort Study.
Lam T, Saso A, Torres Ortiz A, Hatcher J, Woodman M, Chandran S, Thistlethwayte R, Best T, Johnson M, Wagstaffe H, Mai A, Buckland M, Gilmour K, Goldblatt D, Grandjean L; COVID-19 Staff Testing of Antibody Responses (Co-STARs) Study Team. Lam T, et al. Clin Infect Dis. 2024 Mar 20;78(3):594-602. doi: 10.1093/cid/ciad522. Clin Infect Dis. 2024. PMID: 37647517 Free PMC article.
3,661 results