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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U, Watson CM, Liu L, Smith CEL, Harfoush A, Poulter JA, Nikolopoulos G, Balmer R, Brown CJ, Patel A, Simmonds J, Charlton R, Acosta de Camargo MG, Rodd HD, Jafri H, Antanaviciute A, Moffat M, Al-Jawad M, Inglehearn CF, Mighell AJ. Hany U, et al. Among authors: liu l. J Med Genet. 2024 Mar 21;61(4):347-355. doi: 10.1136/jmg-2023-109510. J Med Genet. 2024. PMID: 37979963 Free PMC article.
Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation.
Adlam D, Berrandou TE, Georges A, Nelson CP, Giannoulatou E, Henry J, Ma L, Blencowe M, Turley TN, Yang ML, Chopade S, Finan C, Braund PS, Sadeg-Sayoud I, Iismaa SE, Kosel ML, Zhou X, Hamby SE, Cheng J, Liu L, Tarr I, Muller DWM, d'Escamard V, King A, Brunham LR, Baranowska-Clarke AA, Debette S, Amouyel P, Olin JW, Patil S, Hesselson SE, Junday K, Kanoni S, Aragam KG, Butterworth AS; CARDIoGRAMPlusC4D; MEGASTROKE; International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group; Tweet MS, Gulati R, Combaret N; DISCO register; Kadian-Dodov D, Kalman JM, Fatkin D, Hingorani AD, Saw J, Webb TR, Hayes SN, Yang X, Ganesh SK, Olson TM, Kovacic JC, Graham RM, Samani NJ, Bouatia-Naji N. Adlam D, et al. Among authors: liu l. Nat Genet. 2023 Jun;55(6):964-972. doi: 10.1038/s41588-023-01410-1. Epub 2023 May 29. Nat Genet. 2023. PMID: 37248441 Free PMC article.
Comprehensive genetic and functional analyses of Fc gamma receptors influence on response to rituximab therapy for autoimmunity.
Robinson JI, Md Yusof MY, Davies V, Wild D, Morgan M, Taylor JC, El-Sherbiny Y, Morris DL, Liu L, Rawstron AC, Buch MH, Plant D, Cordell HJ, Isaacs JD, Bruce IN, Emery P, Barton A, Vyse TJ, Barrett JH, Vital EM, Morgan AW; MATURA Consortia; MASTERPLANS Consortia. Robinson JI, et al. Among authors: liu l. EBioMedicine. 2022 Dec;86:104343. doi: 10.1016/j.ebiom.2022.104343. Epub 2022 Nov 11. EBioMedicine. 2022. PMID: 36371989 Free PMC article.
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