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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; WGS500 Consortium; Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC. Martin HC, et al. Among authors: fleming mr. Hum Mol Genet. 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25. Hum Mol Genet. 2014. PMID: 24463883 Free PMC article.
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R. Barcia G, et al. Among authors: fleming mr. Nat Genet. 2012 Nov;44(11):1255-9. doi: 10.1038/ng.2441. Epub 2012 Oct 21. Nat Genet. 2012. PMID: 23086397 Free PMC article.
Kv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating.
Zhang Y, Zhang XF, Fleming MR, Amiri A, El-Hassar L, Surguchev AA, Hyland C, Jenkins DP, Desai R, Brown MR, Gazula VR, Waters MF, Large CH, Horvath TL, Navaratnam D, Vaccarino FM, Forscher P, Kaczmarek LK. Zhang Y, et al. Among authors: fleming mr. Cell. 2016 Apr 7;165(2):434-448. doi: 10.1016/j.cell.2016.02.009. Epub 2016 Mar 17. Cell. 2016. PMID: 26997484 Free PMC article.
LNK/SH2B3 loss of function increases susceptibility to murine and human atrial fibrillation.
Murphy MB, Yang Z, Subati T, Farber-Eger E, Kim K, Blackwell DJ, Fleming MR, Stark JM, Van Amburg JC, Woodall KK, Van Beusecum JP, Agrawal V, Smart CD, Pitzer A, Atkinson JB, Fogo AB, Bastarache JA, Kirabo A, Wells QS, Madhur MS, Barnett JV, Murray KT. Murphy MB, et al. Among authors: fleming mr. Cardiovasc Res. 2024 Feb 20:cvae036. doi: 10.1093/cvr/cvae036. Online ahead of print. Cardiovasc Res. 2024. PMID: 38377486
Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome.
Lancaster MC, Chen HH, Shoemaker MB, Fleming MR, Baker JT, Evans G, Polikowsky HG, Samuels DC, Huff CD, Roden DM, Below JE. Lancaster MC, et al. Among authors: fleming mr. Res Sq [Preprint]. 2023 Sep 15:rs.3.rs-3314860. doi: 10.21203/rs.3.rs-3314860/v1. Res Sq. 2023. PMID: 37790303 Free PMC article. Preprint.
Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT syndrome.
Lancaster MC, Chen HH, Shoemaker MB, Fleming MR, Baker JT, Polikowsky HG, Samuels DC, Huff CD, Roden DM, Below JE. Lancaster MC, et al. Among authors: fleming mr. medRxiv [Preprint]. 2023 Apr 25:2023.04.19.23288831. doi: 10.1101/2023.04.19.23288831. medRxiv. 2023. PMID: 37163006 Free PMC article. Preprint.
26 results