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Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia

Andres Deik, Brooke Johannes, Janet C. Rucker, Elena Sánchez, Scott E. Brodie, Erin Deegan, Katherine Landy, Yuji Kajiwara, Stephen N. Scelsa, Rachel Saunders‐Pullman,

Journal of Neurology · 2014 · 38 citations · 25 references

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In silico analysis enabling informed design for genome editing in medicinal cannabis; gene families and variant characterisation

Figshare · 2019 · 4.2K citations · Full text

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PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations

Jaroslav Bendl, Jan Štourač, Ondrej Salanda et al. · PLoS Computational Biology · 2014 · 880 citations · Full text

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Characterization of PLA2G6 as a locus for dystonia‐parkinsonism

Coro Paisán-Ruı́z, Kailash P. Bhatia, Abi Li et al. · Annals of Neurology · 2008 · 482 citations

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Characterization of the human patatin-like phospholipase family

Paul A. Wilson, Scott D. Gardner, Natalie M. Lambie et al. · Journal of Lipid Research · 2006 · 302 citations · Full text

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Neurodegeneration associated with genetic defects in phospholipase A <sub>2</sub>

Allison Gregory, S. K. Westaway, Ida E. Holm et al. · Neurology · 2008 · 266 citations · Full text

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