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Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project.
Hartill V, Kabir M, Best S, Shaikh Qureshi WM, Baross SL, Lord J, Yu J, Sasaki E, Needham H, Shears D, Roche M, Wall E, Cooper N, Ryan G, Eason J, Johnson R, Keavney B, Hentges KE, Johnson CA. Hartill V, et al. Among authors: best s. Eur J Hum Genet. 2024 Nov 26. doi: 10.1038/s41431-024-01744-2. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39587356
Novel Macrocyclic NLRP3 Inhibitors.
Mesch S, Shannon J, Miller D, MacLeod A, Bouché L, Johnston HJ, Matthews K, Paehler A, Best S, Guba W, Alanine T, Halai R, Charge L, Garside S, Thom S, Incerti-Pradillos C, McPherson C, Carrillo J, St-Gallay S, Rigo P, Schlicht S, Hendrick AG, Lerner C, Piali L, Blaising J, Mracsko EZ, Jaeschke G, Cooper MA. Mesch S, et al. Among authors: best s. J Med Chem. 2024 Nov 25. doi: 10.1021/acs.jmedchem.4c01376. Online ahead of print. J Med Chem. 2024. PMID: 39585325
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP, Delatycki MB, Archibald AD, Tutty E, Caruana J, Halliday JL, Lewis S, McClaren BJ, Newson AJ, Dive L, Best S, Long JC, Braithwaite J, Downes MJ, Scuffham PA, Massie J, Barlow-Stewart K, Kulkarni A, Ruscigno A, Kanga-Parabia A, Rodrigues B, Bennetts BH, Ebzery C, Hunt C, Cliffe CC, Lee C, Azmanov D, King EA, Madelli EO, Zhang F, Ho G, Danos I, Liebelt J, Fletcher J, Kennedy J, Beilby J, Emery JD, McGaughran J, Marum JE, Scarff K, Fisk K, Harrison K, Boggs K, Giameos L, Fitzgerald L, Thomas L, Burnett L, Freeman L, Harris M, Berbic M, Davis MR, Cifuentes Ochoa M, Wallis M, Wall M, Chow MTM, Ferrie MM, Pachter N, Quayum N, Lang N, Kasi Pandy P, Casella R, Allcock RJN, Ong R, Edwards S, Sundercombe S, Jelenich S, Righetti S, Lunke S, Kaur S, Stock-Myer S, Eggers S, Walker SP, Theodorou T, Catchpool T, Clinch T, Roscioli T, Hardy T, Zhu Y, Fehlberg Z, Boughtwood TF, Laing NG; Mackenzie’s Mission Investigators; Mackenzie's Mission Investigators. Kirk EP, et al. Among authors: best s. N Engl J Med. 2024 Nov 21;391(20):1877-1889. doi: 10.1056/NEJMoa2314768. N Engl J Med. 2024. PMID: 39565987
1,011 results