C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
2007 · Nature Genetics · 444 citations
https://doi.org/10.1038/ng2082
M
Martin B. Delatycki
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Martin B. Delatycki is an academic researcher from Muscular Dystrophy Association. The author has contributed to research in topics: Genetic Neurodegenerative Diseases & Mitochondrial Function and Pathology & Parkinson's Disease Mechanisms and Treatments. The author has an h-index of 70, co-authored 445 publications.
ORCID: 0000-0002-8769-2569Papers by this author
worksLarge-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
2020 · Nature Communications · 209 citations
https://doi.org/10.1038/s41467-020-18723-y
Friedreich ataxia- pathogenesis and implications for therapies
2019 · Neurobiology of Disease · 144 citations
https://doi.org/10.1016/j.nbd.2019.104606
Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation
2004 · The American Journal of Human Genetics · 142 citations
https://doi.org/10.1086/422507
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
2020 · European Journal of Human Genetics · 109 citations
https://doi.org/10.1038/s41431-020-0685-x
Homologous recombination DNA repair defects in PALB2-associated breast cancers
2019 · npj Breast Cancer · 57 citations
https://doi.org/10.1038/s41523-019-0115-9
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