Whole-genome sequencing of patients with rare diseases in a national health system
2020 · Nature · 568 citations
https://doi.org/10.1038/s41586-020-2434-2
R
Rita Horváth
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Rita Horváth is an academic researcher from University of Queensland. The author has contributed to research in topics: Mitochondrial Function and Pathology & Metabolism and Genetic Disorders & ATP Synthase and ATPases Research. The author has an h-index of 79, co-authored 533 publications.
ORCID: 0000-0002-9841-170XPapers by this author
worksGermline selection shapes human mitochondrial DNA diversity
2019 · Science · 247 citations
https://doi.org/10.1126/science.aau6520
Extending the <i>KCNQ2</i> encephalopathy spectrum
2013 · Neurology · 218 citations
https://doi.org/10.1212/01.wnl.0000435296.72400.a1
Mitochondria: Impaired mitochondrial translation in human disease
2014 · The International Journal of Biochemistry & Cell Biology · 189 citations
https://doi.org/10.1016/j.biocel.2013.12.011
Titin mutation segregates with hereditary myopathy with early respiratory failure
2012 · Brain · 137 citations
https://doi.org/10.1093/brain/aws102
A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin
1999 · Neurology · 107 citations
https://doi.org/10.1212/wnl.53.7.1564
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