1. Bersano A, Markus HS, Quaglini S, Arbustini E, Lanfranconi S, Micieli G, et al. Clinical pregenetic screening for stroke monogenic diseases: results from Lombardia GENS registry. Stroke. 2016; 47:1702–1709.
Article
2. Park HK, Lee KJ, Park JM, Kang K, Lee SJ, Kim JG, et al. Prevalence of mutations in Mendelian stroke genes in early onset stroke patients. Ann Neurol. 2023; 93:768–782.
Article
3. Cho BPH, Harshfield EL, Al-Thani M, Tozer DJ, Bell S, Markus HS. Association of vascular risk factors and genetic factors with penetrance of variants causing monogenic stroke. JAMA Neurol. 2022; 79:1303–1311.
Article
4. Grami N, Chong M, Lali R, Mohammadi-Shemirani P, Henshall DE, Rannikmäe K, et al. Global assessment of Mendelian stroke genetic prevalence in 101 635 individuals from 7 ethnic groups. Stroke. 2020; 51:1290–1293.
Article
5. Kang CH, Kim YM, Kim YJ, Hong SJ, Kim DY, Woo HG, et al. Pathogenic NOTCH3 variants are frequent among the Korean general population. Neurol Genet. 2021; 7:e639.
6. Lee YC, Chung CP, Chang MH, Wang SJ, Liao YC. NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population. Neurology. 2020; 94:e87–e96.
7. Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020; 581:434–443.
Article
8. Rutten JW, Dauwerse HG, Gravesteijn G, van Belzen MJ, van der Grond J, Polke JM, et al. Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL. Ann Clin Transl Neurol. 2016; 3:844–853.
Article
9. Jang MA, Shin S, Yoon JH, Ki CS. Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals. BMC Med Genet. 2015; 16:109.
Article
10. Germain DP. Pseudoxanthoma elasticum. Orphanet J Rare Dis. 2017; 12:85.
Article