https://doi.org/10.1002/ajmg.a.36887
M
Mary D. King
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140
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49
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Mary D. King is an academic researcher from University College Dublin. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Epilepsy research and treatment. The author has an h-index of 49, co-authored 119 publications.
Papers by this author
worksCharacterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>
2015 · American Journal of Medical Genetics Part A · 601 citations
Status dystonicus: a practice guide
2013 · Developmental Medicine & Child Neurology · 156 citations
https://doi.org/10.1111/dmcn.12339
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
2008 · European Journal of Human Genetics · 148 citations
https://doi.org/10.1038/ejhg.2008.208
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype
2014 · Journal of Neurology · 70 citations
https://doi.org/10.1007/s00415-014-7488-3
Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28
2010 · European Journal of Pediatrics · 51 citations
https://doi.org/10.1007/s00431-010-1144-4
Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)
2020 · Stem Cell Research · 3 citations
https://doi.org/10.1016/j.scr.2020.101853
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