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Development and internal validation of clinical prediction models for outcomes of complicated intra-abdominal infection.
Ahmed S, Bonnett L, Melhuish A, Adil MT, Aggarwal I, Ali W, Bennett J, Boldock E, Burns FA, Czarniak E, Dennis R, Flower B, Fok R, Goodman AL, Halai S, Hanna T, Hashem M, Hodgson SH, Hughes G, Hurndall KH, Hyland R, Iqbal MR, Jarchow-MacDonald A, Kailavasan M, Klimovskij M, Laliotis A, Lambourne J, Lawday S, Lee F, Lindsey B, Lund JN, Mabayoje DA, Malik KI, Muir A, Narula HS, Ofor U, Parsons H, Pavelle T, Prescott K, Rajgopal A, Roy I, Sagar J, Scarborough C, Shaikh S, Smart CJ, Snape S, Tabaqchali MA, Tennakoon A, Tilley R, Vink E, White L, Burke D, Kirby A. Ahmed S, et al. Among authors: prescott k. Br J Surg. 2021 Apr 30;108(4):441-447. doi: 10.1093/bjs/znaa117. Br J Surg. 2021. PMID: 33615351 Free article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
Larsen ISB, Povolo L, Zhou L, Tian W, Mygind KJ, Hintze J, Jiang C, Hartill V, Prescott K, Johnson CA, Mullegama SV, McConkie-Rosell A, McDonald M, Hansen L, Vakhrushev SY, Schjoldager KT, Clausen H, Worzfeld T, Joshi HJ, Halim A. Larsen ISB, et al. Among authors: prescott k. Proc Natl Acad Sci U S A. 2023 May 23;120(21):e2302584120. doi: 10.1073/pnas.2302584120. Epub 2023 May 15. Proc Natl Acad Sci U S A. 2023. PMID: 37186866 Free PMC article.
110 results