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Author

Joseph Copty

Observed name: J. Copty
ORCID: 0000-0002-8602-119X
Observed ORCID: 0000-0002-8602-119X
OpenAlex ID: A5026626302
RAC: Repository of Antibiotic resistance Cassettes
2011 · G. Tsafnat, J. Copty, et al. · Database · 58
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Heritable defects in telomere and mitotic function selectively predispose to sarcomas
2023 · Mandy L. Ballinger, Swetansu Pattnaik, et al. · Science · 50
Low disease risk and penetrance in Leber hereditary optic neuropathy
2022 · Eloise C. Watson, Ryan L. Davis, et al. · The American Journal of Human Genetics · 23
Genome sequencing reanalysis increases the diagnostic yield in dystonia
2024 · Avi Fellner, Gurusidheshwar M. Wali, et al. · Parkinsonism & Related Disorders · 16
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Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies
2024 · Sumaiya Nazeen, Xinyuan Wang, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 4
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Opportunistic genomic screening of healthy controls in an Australian biobank
2026 · Lucas A. Mitchell, Mary-Anne Young, et al. · European Journal of Human Genetics · 1
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Mitochondrial Disease variation in healthy older adults: a genotype-phenotype assessment linking pathogenic variants and mitochondrial constraint
2026 · Eloise Watson, Gordon Qian, et al. · medRxiv
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Pathogenic mitochondrial genome variation, heteroplasmy thresholding and mitochondrial constraint measures in a healthy older cohort
2026 · Eloise Watson, Gordon Qian, et al. · medRxiv
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Population nuclear mitochondrial disease risk estimated from nuclear disease gene variants in a healthy older cohort
2026 · Eloise C Watson, Shyamsundar Ravishankar, et al. · medRxiv
2366 Pathogenic mtDNA variants and potential disease risk in a healthy older population
2022 · Eloise Watson, Ryan Davis, et al. · Abstracts
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Works count: 10
Citation count: 152
H-index: 4
I10-index: 4
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