Concepedia

Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis

Sandrine Chan Moi Fat, Emily P. McCann, Kelly L. Williams, Lyndal Henden, Denis C. Bauer, Roger Pamphlett, Matthew C. Kiernan, Dominic B. Rowe, Garth A. Nicholson, Jennifer A. Fifita,

Neurobiology of Aging · 2021 · 14 citations · 7 references

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7

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

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The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

Rick A. A. van der Spek, Wouter van Rheenen, Sara L. Pulit et al. · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 2019 · 92 citations · Full text

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Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

Emily P. McCann, Lyndal Henden, Jennifer A. Fifita et al. · Journal of Medical Genetics · 2020 · 91 citations · Full text

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The genotype–phenotype landscape of familial amyotrophic lateral sclerosis in Australia

Emily P. McCann, Kelly L. Williams, Jennifer A. Fifita et al. · Clinical Genetics · 2017 · 84 citations

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Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis

Johnathan Cooper‐Knock, Tobias Moll, Tennore Ramesh et al. · Cell Reports · 2019 · 82 citations · Full text

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