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T32GM007748

Funded outputs count: 7
Funder award ID: T32GM007748
OpenAlex ID: G7096209010
POLRMT mutations impair mitochondrial transcription causing neurological disease
2021 · Monika Oláhová, Bradley Peter, et al. · Nature Communications · 63
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Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content
2020 · Rosa Woldegebriel, Jouni Kvist, et al. · Human Molecular Genetics · 9
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Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency
2020 · Hardo Lilleväli, Sander Pajusalu, et al. · Molecular Genetics & Genomic Medicine · 8
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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
2019 · Elisabetta Flex, Simone Martinelli, et al. · The American Journal of Human Genetics · 58
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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
2019 · Lot Snijders Blok, Tjitske Kleefstra, et al. · The American Journal of Human Genetics · 48
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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
2019 · Enrico D.H. Konrad, Niels Nardini, et al. · Genetics in Medicine · 64
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A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016
2019 · Maria Yakoreva, Tiina Kahre, et al. · European Journal of Human Genetics · 40
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