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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
Dendrin ablation prolongs life span by delaying kidney failure.
Weins A, Wong JS, Basgen JM, Gupta R, Daehn I, Casagrande L, Lessman D, Schwartzman M, Meliambro K, Patrakka J, Shaw A, Tryggvason K, He JC, Nicholas SB, Mundel P, Campbell KN. Weins A, et al. Among authors: nicholas sb. Am J Pathol. 2015 Aug;185(8):2143-57. doi: 10.1016/j.ajpath.2015.04.011. Epub 2015 Jun 12. Am J Pathol. 2015. PMID: 26073036 Free PMC article.
Identification and collection of quality indicators for perinatal care.
Suresh GK, Ferguson LA, Tomlinson M, Campbell BB, Ohlinger J, Prochnicki B, Nicholas S, Warren MB, Edwards W, Chute L, Christian L, Hagen E, Sieber D, Schriefer J. Suresh GK, et al. Among authors: nicholas s. J Nurs Care Qual. 2007 Jan-Mar;22(1):73-9. doi: 10.1097/00001786-200701000-00014. J Nurs Care Qual. 2007. PMID: 17149089