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References from The prevalence of protein misfolding as a mechanism for hereditary deafness. Local targets link to admitted publications; unresolved targets remain external evidence.
Genetic hearing loss overview.
1993 · External reference
Newborn hearing screening--a silent revolution
10.1056/nejmra050700 · 2006 · External reference
Nonsyndromic hearing impairment: unparalleled heterogeneity
1997 · External reference
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
10.1073/pnas.1012989107 · 2010 · External reference
Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care
10.1177/0194599815591156 · 2015 · External reference
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
10.1038/gim.2015.30 · 2015 · External reference
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes
10.1016/j.ajhg.2018.08.006 · 2018 · External reference
The evolution of dbSNP: 25 years of impact in genomic research
10.1093/nar/gkae977 · 2025 · External reference
A genomic mutational constraint map using variation in 76,156 human genomes
10.1038/s41586-023-06045-0 · 2024 · External reference
A global reference for human genetic variation
10.1038/nature15393 · 2015 · External reference
ClinVar: public archive of relationships among sequence variation and human phenotype
10.1093/nar/gkt1113 · 2014 · External reference
The Human Gene Mutation Database (HGMD(R)): optimizing its use in a clinical diagnostic or research setting
10.1007/s00439-020-02199-3 · 2020 · External reference
A general framework for estimating the relative pathogenicity of human genetic variants
10.1038/ng.2892 · 2014 · External reference
CADD: predicting the deleteriousness of variants throughout the human genome
10.1093/nar/gky1016 · 2019 · External reference
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
10.1016/j.ajhg.2016.08.016 · 2016 · External reference
Accurate proteome-wide missense variant effect prediction with AlphaMissense
10.1126/science.adg7492 · 2023 · External reference
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
10.1016/j.ajhg.2022.10.013 · 2022 · External reference
Fundamentals to function: Quantitative and scalable approaches for measuring protein stability
10.1016/j.cels.2021.05.009 · 2021 · External reference
Accurate structure prediction of biomolecular interactions with AlphaFold 3
10.1038/s41586-024-07487-w · 2024 · External reference
Loss of protein structure stability as a major causative factor in monogenic disease
10.1016/j.jmb.2005.08.020 · 2005 · External reference
SNPs, protein structure, and disease
10.1002/humu.22 · 2001 · External reference
Classifying disease-associated variants using measures of protein activity and stability.
10.1016/b978-0-12-819132-3.00005-1 · 2020 · External reference
Site-saturation mutagenesis of 500 human protein domains
10.1038/s41586-024-08370-4 · 2025 · External reference
The mutational constraint spectrum quantified from variation in 141,456 humans
10.1038/s41586-020-2308-7 · 2020 · External reference
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome
10.1007/s00439-023-02559-9 · 2023 · External reference
Highly accurate protein structure prediction with AlphaFold
10.1038/s41586-021-03819-2 · 2021 · External reference
AmberTools
10.1021/acs.jcim.3c01153 · 2023 · External reference
Recent Developments in Amber Biomolecular Simulations
10.1021/acs.jcim.5c01063 · 2025 · External reference
Structural Insights into Hearing Loss Genetics from Polarizable Protein Repacking
10.1016/j.bpj.2019.06.030 · 2019 · External reference
Dead-End Elimination with a Polarizable Force Field Repacks PCNA Structures
10.1016/j.bpj.2015.06.062 · 2015 · External reference
The Polarizable Atomic Multipole-based AMOEBA Force Field for Proteins
10.1021/ct4003702 · 2013 · External reference
Current status of the AMOEBA polarizable force field
10.1021/jp910674d · 2010 · External reference
MolProbity: all-atom structure validation for macromolecular crystallography
10.1107/s0907444909042073 · 2010 · External reference
MolProbity: all-atom contacts and structure validation for proteins and nucleic acids
10.1093/nar/gkm216 · 2007 · External reference
Actin structure and function
10.1146/annurev-biophys-042910-155359 · 2011 · External reference
Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss
10.1007/s11033-020-06016-y · 2020 · External reference
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
10.1038/gim.2017.210 · 2018 · External reference
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
10.1038/s41586-024-07050-7 · 2024 · External reference
Functionally constrained human proteins are less prone to mutational instability from single amino acid substitutions
10.1038/s41467-025-57757-y · 2025 · External reference
DDGun: an untrained predictor of protein stability changes upon amino acid variants
10.1093/nar/gkac325 · 2022 · External reference
Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4
10.1101/gr.276562.122 · 2022 · External reference
Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss
10.1089/gtmb.2023.0747 · 2024 · External reference
A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern
10.1016/j.heares.2019.04.014 · 2019 · External reference
Mutations of MYO6 are associated with recessive deafness, DFNB37
10.1086/375122 · 2003 · External reference
Myosin VI: two distinct roles in endocytosis
10.1242/jcs.00669 · 2003 · External reference
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients
10.1038/gim.2017.143 · 2018 · External reference
OTOF-Related Hearing Loss
1993 · External reference
Unresolved reference
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Unresolved reference
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Unresolved reference
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Unresolved reference
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How fast is protein hydrophobic collapse?
10.1073/pnas.2033863100 · 2003 · External reference
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
10.1016/j.ajhg.2023.06.002 · 2023 · External reference
Structural Insights into Hearing Loss Genetics from Polarizable Protein Repacking
10.1016/j.bpj.2019.06.030 · 2019 · External reference
Human protein interactome structure prediction at scale with Boltz-2
2025 · External reference
Boltz-2: Towards Accurate and Efficient Binding Affinity Prediction
2025 · External reference
OpenFold: retraining AlphaFold2 yields new insights into its learning mechanisms and capacity for generalization
10.1038/s41592-024-02272-z · 2024 · External reference
OpenFold provides insights into AlphaFold2’s learning behavior
10.1038/s41587-024-02290-4 · 2024 · External reference
Prediction of Protein Mutational Free Energy: Benchmark and Sampling Improvements Increase Classification Accuracy
10.3389/fbioe.2020.558247 · 2020 · External reference
Acceleration of the GROMACS Free-Energy Perturbation Calculations on GPUs
10.1021/acsomega.5c00151 · 2025 · External reference
Accurate Prediction of Protein Thermodynamic Stability Changes upon Residue Mutation using Free Energy Perturbation
10.1016/j.jmb.2021.167375 · 2022 · External reference
Robust Prediction of Relative Binding Energies for Protein-Protein Complex Mutations Using Free Energy Perturbation Calculations
10.1016/j.jmb.2024.168640 · 2024 · External reference
MutaBind2: Predicting the Impacts of Single and Multiple Mutations on Protein-Protein Interactions
10.1016/j.isci.2020.100939 · 2020 · External reference
Force Field X: A computational microscope to study genetic variation and organic crystals using theory and experiment
10.1063/5.0214652 · 2024 · External reference
