Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree

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

Life Sciences, Genetics, Molecular Genetics +17

Clustal W and Clustal X version 2.0

Mark Larkin, Gordon Blackshields, Nigel P. Brown et al. · Bioinformatics · 2007 · 29.1K citations · Full text

Life Sciences, Bioinformatics, Computer Science +7

SWISS-MODEL: homology modelling of protein structures and complexes

Andrew Waterhouse, Martino Bertoni, Stefan Bienert et al. · Nucleic Acids Research · 2018 · 13.6K citations · Full text

Life Sciences, Biochemistry, Bioinformatics +15

UniProt: the Universal Protein knowledgebase

Rolf Apweiler · Nucleic Acids Research · 2003 · 7.8K citations · Full text

Life Sciences, Biochemistry, Bioinformatics +11

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

Life Sciences, Bioinformatics, Genetics +17