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Type 1 diabetes.
DiMeglio LA, Evans-Molina C, Oram RA. DiMeglio LA, et al. Lancet. 2018 Jun 16;391(10138):2449-2462. doi: 10.1016/S0140-6736(18)31320-5. Lancet. 2018. PMID: 29916386 Free PMC article. Review.
New insights on the genetics of type 1 diabetes.
Oram RA, Redondo MJ. Oram RA, et al. Curr Opin Endocrinol Diabetes Obes. 2019 Aug;26(4):181-187. doi: 10.1097/MED.0000000000000489. Curr Opin Endocrinol Diabetes Obes. 2019. PMID: 31219823 Review.
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Khalaf-Nazzal R, et al. Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi: 10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24. Am J Hum Genet. 2022. PMID: 36283405 Free PMC article.
Genetic risk scores in adult-onset type 1 diabetes.
Leslie RD, Lernmark Å. Leslie RD, et al. Lancet Diabetes Endocrinol. 2018 Mar;6(3):168-169. doi: 10.1016/S2213-8587(18)30039-1. Lancet Diabetes Endocrinol. 2018. PMID: 29475495 No abstract available.
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Leslie JS, Hjeij R, Vivante A, Bearce EA, Dyer L, Wang J, Rawlins L, Kennedy J, Ubeyratna N, Fasham J, Irons ZH, Craig SB, Koenig J, George S, Pode-Shakked B, Bolkier Y, Barel O, Mane S, Frederiksen KK, Wenger O, Scott E, Cross HE, Lorentzen E, Norris DP, Anikster Y, Omran H, Grimes DT, Crosby AH, Baple EL. Leslie JS, et al. Genet Med. 2022 Nov;24(11):2249-2261. doi: 10.1016/j.gim.2022.07.019. Epub 2022 Sep 8. Genet Med. 2022. PMID: 36074124 Free PMC article.
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
Ammous Z, Rawlins LE, Jones H, Leslie JS, Wenger O, Scott E, Deline J, Herr T, Evans R, Scheid A, Kennedy J, Chioza BA, Ames RM, Cross HE, Puffenberger EG, Harries L, Baple EL, Crosby AH. Ammous Z, et al. PLoS Genet. 2021 Sep 27;17(9):e1009803. doi: 10.1371/journal.pgen.1009803. eCollection 2021 Sep. PLoS Genet. 2021. PMID: 34570759 Free PMC article.
50 results