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Museum image: tricuspid.
Maragiannis D, Smithson S, Amrikachi M, Lawrie G, Little SH, Chang SM. Maragiannis D, et al. Among authors: smithson s. Methodist Debakey Cardiovasc J. 2015 Jan-Mar;11(1):64. doi: 10.14797/mdcj-11-1-64. Methodist Debakey Cardiovasc J. 2015. PMID: 25793035 Free PMC article. No abstract available.
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
Camarena V, Williams MM, Morales AA, Zafeer MF, Kilic OV, Kamiar A, Abad C, Rasmussen MA, Briski LM, Peart L, Bademci G, Barbouth DS, Smithson S, Wang G, Shehadeh LA, Walz K, Tekin M. Camarena V, et al. Among authors: smithson s. JCI Insight. 2024 Feb 1;9(5):e174417. doi: 10.1172/jci.insight.174417. JCI Insight. 2024. PMID: 38300707 Free PMC 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
A novel likely pathogenic CLCN5 variant in Dent's disease.
Hayward S, Norton J, Bownass L, Platt C; Genomics England Research Consortium; Campbell H, Watson E, Forrester N, Smithson S, Menon A. Hayward S, et al. Among authors: smithson s. BMC Nephrol. 2023 Aug 28;24(1):256. doi: 10.1186/s12882-023-03292-1. BMC Nephrol. 2023. PMID: 37641036 Free PMC article.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Rossi A, Blok LS, Neuser S, Klöckner C, Platzer K, Faivre LO, Weigand H, Dentici ML, Tartaglia M, Niceta M, Alfieri P, Srivastava S, Coulter D, Smith L, Vinorum K, Cappuccio G, Brunetti-Pierri N, Torun D, Arslan M, Lauridsen MF, Murch O, Irving R, Lynch SA, Mehta SG, Carmichael J, Zonneveld-Huijssoon E, de Vries B, Kleefstra T, Johannesen KM, Westphall IT, Hughes SS, Smithson S, Evans J, Dudding-Byth T, Simon M, van Binsbergen E, Herkert JC, Beunders G, Oppermann H, Bakal M, Møller RS, Rubboli G, Bayat A. Rossi A, et al. Among authors: smithson s. Clin Genet. 2023 Aug;104(2):186-197. doi: 10.1111/cge.14353. Epub 2023 May 10. Clin Genet. 2023. PMID: 37165752
179 results