Concepedia

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family

Giulia Soldà, Sonia Caccia, Michela Robusto, Chiara Chiereghin, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga, Rosanna Asselta

Journal of Human Genetics · 2015 · 50 citations · 25 references

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25

Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

Ivan Adzhubei, Daniel M. Jordan, Shamil Sunyaev · Current Protocols in Human Genetics · 2013 · 3.8K citations

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HHblits: lightning-fast iterative protein sequence searching by HMM-HMM alignment

Michael Remmert, A. Biegert, Andreas Hauser et al. · Nature Methods · 2011 · 2.5K citations · Full text

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SIFT web server: predicting effects of amino acid substitutions on proteins

Ngak-Leng Sim, P. Naresh Kumar, Jing Hu et al. · Nucleic Acids Research · 2012 · 2.5K citations · Full text

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Predicting the functional impact of protein mutations: application to cancer genomics

Boris Reva, Yevgeniy Antipin, Chris Sander · Nucleic Acids Research · 2011 · 2.1K citations · Full text

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Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

Hashem A. Shihab, Julian Gough, D.N. Cooper et al. · Human Mutation · 2012 · 1.4K citations · Full text

, , +16