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A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Among authors: huentelman mj. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025
DNA methylation changes associated with Parkinson's disease progression: outcomes from the first longitudinal genome-wide methylation analysis in blood.
Henderson-Smith A, Fisch KM, Hua J, Liu G, Ricciardelli E, Jepsen K, Huentelman M, Stalberg G, Edland SD, Scherzer CR, Dunckley T, Desplats P. Henderson-Smith A, et al. Epigenetics. 2019 Apr;14(4):365-382. doi: 10.1080/15592294.2019.1588682. Epub 2019 Mar 14. Epigenetics. 2019. PMID: 30871403 Free PMC article.
Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene.
Jepsen WM, Fazenbaker A, Ramsey K, Bonfitto A, Naymik M, Turner B, Sloan J, Tiwari N, Bernes SM, Neilson DE, Sanchez-Castillo M, Huentelman MJ, Narayanan V. Jepsen WM, et al. Among authors: huentelman mj. Int J Mol Sci. 2024 Nov 6;25(22):11922. doi: 10.3390/ijms252211922. Int J Mol Sci. 2024. PMID: 39595988 Free PMC article.
Amyloid-β predominant Alzheimer's disease neuropathologic change.
Kovacs GG, Katsumata Y, Wu X, Aung KZ, Fardo DW, Forrest SL; Alzheimer's Disease Genetics Consortium; Nelson PT. Kovacs GG, et al. Brain. 2024 Oct 17:awae325. doi: 10.1093/brain/awae325. Online ahead of print. Brain. 2024. PMID: 39417691
Phenome-Wide Association of APOE Alleles in the All of Us Research Program.
Khajouei E, Ghisays V, Piras IS, Martinez KL, Naymik M, Ngo P, Tran TC, Denny JC, Wheeler TJ, Huentelman MJ, Reiman EM, Karnes JH. Khajouei E, et al. Among authors: huentelman mj. medRxiv [Preprint]. 2024 Sep 4:2024.09.04.24313010. doi: 10.1101/2024.09.04.24313010. medRxiv. 2024. PMID: 39281754 Free PMC article. Preprint.
225 results