Adzhubei IA, Schmidt S, Peshkin L, et al. 2010 A method and server for predicting damaging missense mutations. Nat. Methods 7 248–249

Article  CAS  PubMed  PubMed Central  Google Scholar 

Azaiez H, Booth KT, Ephraim SS, et al. 2018 Genomic landscape and mutational signatures of deafness-associated genes. Am. J. Hum. Genet. 103 484–497

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bhonker Y, Abu-Rayyan A, Ushakov K, et al. 2016 The GPSM2/LGN GoLoco motifs are essential for hearing. Mamm. Genome 27 29–46

Article  CAS  PubMed  Google Scholar 

Bolger AM, Lohse M and Usadel B 2014 Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics 30 2114–2120

Article  CAS  PubMed  PubMed Central  Google Scholar 

Choi Y and Chan AP 2015 PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics 31 2745–2747

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chun S and Fay JC 2009 Identification of deleterious mutations within three human genomes. Genome Res. 19 1553–1561

Article  CAS  PubMed  PubMed Central  Google Scholar 

Costello M, Pugh TJ, Fennell TJ, et al. 2013 Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation. Nucleic Acid. Res. 41 e67

Article  CAS  PubMed  PubMed Central  Google Scholar 

Doherty D, Chudley AE, Coghlan G, et al. 2012 GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. Am. J. Hum. Genet. 90 1088–1093

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ebrahimi P, Moghadam M, Maydanchi M, et al. 2021 A Truncating GPSM2 mutation causes autosomal recessive nonsyndromic hearing loss: a case report. SN Compr. Clin. Med. 3 897–900

Article  CAS  Google Scholar 

Ganapathy A, Pandey N, Srisailapathy CR, et al. 2014 Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. PLoS One 9 e84773

Article  PubMed  PubMed Central  Google Scholar 

Garcia-Alcalde F, Okonechnikov K, Carbonell J, et al. 2012 Qualimap: evaluating next-generation sequencing alignment data. Bioinformatics 28 2678–2679

Article  CAS  PubMed  Google Scholar 

Jorgensen JH, Swenson JM, Tenover FC, et al. 1996 Development of interpretive criteria and quality control limits for macrolide and clindamycin susceptibility testing of Streptococcus pneumoniae. J. Clin. Microbiol. 34 2679–2684

Article  CAS  PubMed  PubMed Central  Google Scholar 

Karplus M and Kuriyan J 2005 Molecular dynamics and protein function. Proc. Natl. Acad. Sci. USA 102 6679–6685

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kim S, Scheffler K, Halpern AL, et al. 2018 Strelka2: fast and accurate calling of germline and somatic variants. Nat. Methods 15 591–594

Article  CAS  PubMed  Google Scholar 

Li H, Handsaker B, Wysoker A, et al. 2009 The sequence alignment/map format and SAMtools. Bioinformatics 25 2078–2079

Article  PubMed  PubMed Central  Google Scholar 

Lilina AV, Chernyatina AA, Guzenko D, et al. 2020 Lateral A(11) type tetramerization in lamins. J. Struct. Biol. 209 107404

Article  CAS  PubMed  Google Scholar 

McCudden CR, Willard FS, Kimple RJ, et al. 2005 G alpha selectivity and inhibitor function of the multiple GoLoco motif protein GPSM2/LGN. Biochem. Biophys. Acta 1745 254–264

Article  CAS  PubMed  Google Scholar 

McKenna A, Hanna M, Banks E, et al. 2010 The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20 1297–1303

Article  CAS  PubMed  PubMed Central  Google Scholar 

Morton CC and Nance WE 2006 Newborn hearing screening – a silent revolution. N. Engl. J. Med. 354 2151–2164

Article  CAS  PubMed  Google Scholar 

Oza AM, DiStefano MT, Hemphill SE, et al. 2018 Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum. Mutat. 39 1593–1613

Article  PubMed  Google Scholar 

Pandey N, Rashid T, Jalvi R, et al. 2017 Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India. Indian J. Med. Res. 146 489–497

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pettersen EF, Goddard TD, Huang CC, et al. 2004 UCSF Chimera – a visualization system for exploratory research and analysis. J. Comput. Chem. 25 1605–1612

Article  CAS  PubMed  Google Scholar 

RamShankar M, Girirajan S, Dagan O, et al. 2003 Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J. Med. Genet. 40 e68

Article  CAS  PubMed  PubMed Central  Google Scholar 

Reva B, Antipin Y and Sander C 2011 Predicting the functional impact of protein mutations: application to cancer genomics. Nucl. Acid. Res. 39 e118

Article  CAS  Google Scholar 

Richards S, Aziz N, Bale S, et al. 2015 ACMG Laboratory Quality Assurance Committee. 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. Genet. Med. 5 405–424

Sali A and Blundell TL 1993 Comparative protein modelling by satisfaction of spatial restraints. J. Mol. Biol. 234 779–815

Article  CAS  PubMed  Google Scholar 

Sanga S, Ghosh A, Kumar K, et al. 2021 Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations. Eur. J. Neurol. 28 992–1003

Article  PubMed  Google Scholar 

Schwarz JM, Cooper DN, Schuelke M, et al. 2014 MutationTaster2: mutation prediction for the deep-sequencing age. Nat. Methods 11 361–362

Article  CAS  PubMed  Google Scholar 

Shearer AE and Smith RJH 2015 Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care. Otolaryngol. Head Neck Surg. 153 175–182

Article  PubMed  PubMed Central  Google Scholar 

Sim NL, Kumar P, Hu J, et al. 2012 SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acid. Res. 40 W452–W457

Article  CAS  PubMed  PubMed Central  Google Scholar 

Singh PK, Sharma S, Ghosh M, et al. 2018 Spectrum of GJB2 gene variants in Indian children with non-syndromic hearing loss. Indian J. Med. Res. 147 615–618

Article  CAS  PubMed  PubMed Central