Concepedia

Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations

Sateesh Maddirevula, Mohammad Shagrani, Ae‐Ri Ji, Christopher R. Horne, Samuel N. Young, Lucy J. Mather, Mashael Alqahtani, Colin McKerlie, Geoffrey A. Wood, Paul Potter,

Genetics in Medicine · 2024 · 14 citations · 27 references

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27

Highly accurate protein structure prediction with AlphaFold

John Jumper, Alexander Pritzel, Tim Green et al. · Nature · 2021 · 45.2K citations · Full text

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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Accurate proteome-wide missense variant effect prediction with AlphaMissense

Jun Cheng, Guido Novati, Joshua Pan et al. · Science · 2023 · 2K citations

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GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.6K citations · Full text

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A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen, Laurent C. Francioli, Julia K. Goodrich et al. · Nature · 2023 · 1.3K citations · Full text

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