Myron Levine Distinguished University Professor of Human Genetics
Professor of Human Genetics
Professor of Neurology
[email protected]
Available to mentor
Miriam H Meisler
Professor
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Center MemberCenter for Cell Plasticity and Organ Design
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Yu W, Hill SF, Huang Y, Zhu L, Demetriou Y, Ziobro J, Reger F, Jia X, Mattis J, Meisler MH. Ann Neurol, 2024 Nov; 96 (5): 958 - 969.Journal ArticleAllele-Specific Editing of a Dominant SCN8A Epilepsy Variant Protects against Seizures and Lethality in a Murine Model.
DOI:10.1002/ana.27053 PMID: 39158034 -
Yu W, Hill SF, Zhu L, Demetriou Y, Reger F, Mattis J, Meisler MH. Neurobiol Dis, 2024 Sep; 199: 106591Journal ArticleDentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy.
DOI:10.1016/j.nbd.2024.106591 PMID: 38969233 -
Meyer-Schuman R, Cale AR, Pierluissi JA, Jonatzke KE, Park YN, Lenk GM, Oprescu SN, Grachtchouk MA, Dlugosz AA, Beg AA, Meisler MH, Antonellis A. HGG Adv, 2024 Jul 18; 5 (3): 100324Journal ArticleA model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants.
DOI:10.1016/j.xhgg.2024.100324 PMID: 38956874 -
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Genet Med, 2024 May; 26 (5): 101097Journal ArticleBiallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
DOI:10.1016/j.gim.2024.101097 PMID: 38334070 -
Yamakawa K, Meisler MH, Isom LL. 2024 May; Jasper's Basic Mechanisms of the Epilepsies, 907 - 920.ChapterSodium Channelopathies in Human and Animal Models of Epilepsy and Neurodevelopmental Disorders
DOI:10.1093/med/9780197549469.003.0044 -
Hill SF, Yu W, Ziobro J, Chalasani S, Reger F, Meisler MH. Ann Neurol, 2024 Apr; 95 (4): 754 - 759.Journal ArticleLong-Term Downregulation of the Sodium Channel Gene Scn8a Is Therapeutic in Mouse Models of SCN8A Epilepsy.
DOI:10.1002/ana.26861 PMID: 38113311 -
Meyer-Schuman R, Cale AR, Pierluissi JA, Jonatzke KE, Park YN, Lenk GM, Oprescu SN, Grachtchouk MA, Dlugosz AA, Beg AA, Meisler MH, Antonellis A. 2024 Mar 27;PreprintPredictive modeling provides insight into the clinical heterogeneity associated with TARS1 loss-of-function mutations.
DOI:10.1101/2024.03.25.586600 PMID: 38585737 -
Cao X, Lenk GM, Meisler MH. G3 (Bethesda), 2023 Aug 9; 13 (8):Journal ArticleAltered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.
DOI:10.1093/g3journal/jkad007 PMID: 36691351
Department News
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
Department News
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
Department News
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
Department News
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
