Concepedia

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Patricia L. Weng, Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin, John Musgrove, Minxian Wang, Dina Ahram, Vimla S. Aggarwal,

The American Journal of Human Genetics · 2021 · 27 citations · 44 references

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44

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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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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Rate of de novo mutations and the importance of father’s age to disease risk

Augustine Kong, Michael L. Frigge, Gísli Másson et al. · Nature · 2012 · 2.3K citations

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The tripartite motif family identifies cell compartments

Alexandre Reymond, Germana Meroni, Anna Fantozzi et al. · The EMBO Journal · 2001 · 1.4K citations · Full text

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Single-cell transcriptomics of the mouse kidney reveals potential cellular targets of kidney disease

Jihwan Park, Rojesh Shrestha, Chengxiang Qiu et al. · Science · 2018 · 1.2K citations · Full text

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