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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Among authors: bamshad mj. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.
Grasberger H, Dumitrescu AM, Liao XH, Swanson EG, Weiss RE, Srichomkwun P, Pappa T, Chen J, Yoshimura T, Hoffmann P, França MM, Tagett R, Onigata K, Costagliola S, Ranchalis J, Vollger MR, Stergachis AB, Chong JX, Bamshad MJ, Smits G, Vassart G, Refetoff S. Grasberger H, et al. Among authors: bamshad mj. Nat Genet. 2024 May;56(5):877-888. doi: 10.1038/s41588-024-01717-7. Epub 2024 May 7. Nat Genet. 2024. PMID: 38714869
The clinical utility of sequencing the entirety of CFTR.
Sheridan MB, Aksit MA, Pagel K, Hetrick K, Shultz-Lutwyche H, Myers B, Buckingham KJ, Pace RG, Ling H, Pugh E, O'Neal WK, Bamshad MJ, Gibson RL, Knowles MR, Blackman SM, Cutting GR, Raraigh KS. Sheridan MB, et al. Among authors: bamshad mj. J Cyst Fibros. 2024 May 10:S1569-1993(24)00062-6. doi: 10.1016/j.jcf.2024.04.018. Online ahead of print. J Cyst Fibros. 2024. PMID: 38734509
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.
Stonebraker JR, Pace RG, Gallins PJ, Dang H, Aksit MA, Faino AV, Gordon WW, MacParland S, Bamshad MJ, Gibson RL, Cutting GR, Durie PR, Wright FA, Zhou YH, Blackman SM, O'Neal WK, Ling SC, Knowles MR. Stonebraker JR, et al. Among authors: bamshad mj. Hepatology. 2024 Mar 27. doi: 10.1097/HEP.0000000000000863. Online ahead of print. Hepatology. 2024. PMID: 38536042
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.
Karla AR, Pinard A, Boerio ML, Hemelsoet D, Tavernier SJ, De Pauw M, Vereecke E, Fraser S, Bamshad MJ, Guo D, Callewaert B, Milewicz DM. Karla AR, et al. Among authors: bamshad mj. Am J Med Genet A. 2024 Apr;194(4):e63486. doi: 10.1002/ajmg.a.63486. Epub 2023 Dec 1. Am J Med Genet A. 2024. PMID: 38041217
MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric.
Sun Q, Yang Y, Rosen JD, Chen J, Li X, Guan W, Jiang MZ, Wen J, Pace RG, Blackman SM, Bamshad MJ, Gibson RL, Cutting GR, O'Neal WK, Knowles MR, Kooperberg C, Reiner AP, Raffield LM, Carson AP, Rich SS, Rotter JI, Loos RJF, Kenny E, Jaeger BC, Min YI, Fuchsberger C, Li Y. Sun Q, et al. Among authors: bamshad mj. Am J Hum Genet. 2024 May 2;111(5):990-995. doi: 10.1016/j.ajhg.2024.04.001. Epub 2024 Apr 17. Am J Hum Genet. 2024. PMID: 38636510
CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease.
Mori T, Fujimaru T, Liu C, Patterson K, Yamamoto K, Suzuki T, Chiga M, Sekine A, Ubara Y, Miller DE, Zalusky MP, Mandai S, Ando F, Mori Y, Kikuchi H, Susa K; University of Washington Center for Rare Disease Research; Chong JX, Bamshad MJ, Tan YQ, Zhang F, Uchida S, Sohara E. Mori T, et al. Among authors: bamshad mj. medRxiv [Preprint]. 2024 Apr 5:2024.04.05.24304760. doi: 10.1101/2024.04.05.24304760. medRxiv. 2024. PMID: 38633811 Free PMC article. Preprint.
301 results