Koh JY, Affortit C, Homma K, Takahashi S, Nizar JM, Ranum PT, Gogal R, Kim EM, Kang M, Kolbe DL, Bu F, West C, Wang D, Odell A, Weaver A, Hendon J, Walls WD, Schnieders MJ, Smith RJH. Identification of a novel isoform of Slc26a4 by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea. Hum Genet. 2026 Jul 16;145(1):62. doi: 10.1007/s00439-026-02858-x. PMID: 42461329.

Chin, J.J., Walls, W.D., Wang, K., Odell, A.M., Kolbe, D.L., Booth, K.T.A., Azaiez, H., Smith, R.J.H. Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations. Hum. Genet. (2025). https://doi.org/10.1007/s00439-025-02782-6.

Renauld JM, Iskusnykh IY, Yamoah EN, Smith RJH, Affortit C, He DZ, Liu H, Nichols D, Bouma J, Nayak MK, Weng X, Qin T, Sham MH, Chizhikov VV, Fritzsch B. Lmx1a is essential for marginal cell differentiation and stria vascularis formation. Front Cell Dev Biol. 2025 Mar 5;13:1537505. doi: 10.3389/fcell.2025.1537505. PMID: 40109362; PMCID: PMC11920146.

Azaiez H, Thorpe RK, Odell AM, Smith RJH. OTOF-Related Hearing Loss. [Updated 2025 Mar 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301429.

Shearer AE, Hildebrand MS, Odell AM, Smith RJH. Genetic Hearing Loss Overview. [Updated 2025 Apr 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301607.

Smith RJH, Azaiez H, Odell AM. SLC26A4-Related Sensorineural Hearing Loss. [Updated 2025 Apr 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301640.

Tshering KC, DiStefano MT, Oza AM, Ajuyah P, Webb R, Edoh E, Broeren E, Ratliff J, Gitau V, Paris K, Aburyyan A, Alexander J, Albano V, Bai D, Booth KTA, Buonfiglio PI, Charfeddine C, Dalamón V, Castillo ID, Moreno-Pelayo MA, Duzkale H, Dorshorst B, Faridi R, Kenna M, Lewis MA, Luo M, Lu Y, Mkaouar R, Matsunaga T, Nara K, Pandya A, Redfield S, Roux I, Schimmenti LA, Schrauwen I, Shaaban S, Shen J, Vona B, Smith RJ, Rehm HL, Azaiez H, Abou Tayoun AN, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time. Genet Med. 2025 May;27(5):101392. doi: 10.1016/j.gim.2025.101392. Epub 2025 Feb 19. PMID: 39987489; PMCID: PMC12170156.

Smith RJH, Azaiez H. Branchiootorenal Spectrum Disorder. [Updated 2025 Jun 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301554.

Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium; Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ. The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis. Hum Genet. 2024 May;143(5):721-734. doi: 10.1007/s00439-024-02648-3. Epub 2024 Apr 30. PMID: 38691166; PMCID: PMC11098735.

Klimara MJ, Smith RJH. Advances in cochlear gene therapies. Curr Opin Pediatr. 2023 Jul 7. doi: 10.1097/MOP.0000000000001273. Epub ahead of print. PMID: 37417821.

Iwasa Y*, Klimara MJ*, Yoshimura H, Walls WD, Omichi R, West CA, Shibata SB, Ranum PT, Smith RJ. Mutation-agnostic RNA interference with engineered replacement rescues Tmc1-related hearing loss. Life Sci Alliance. 2022 Dec 27;6(3):e202201592. doi: 10.26508/lsa.202201592. PMID: 36574989; PMCID: PMC9795038.

Koh JY, Affortit C, Ranum PT, West C, Walls WD, Yoshimura H, Shao JQ, Mostaert B, Smith RJH. Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4^-/- mouse. BMC Med Genomics. 2023 Jun 15;16(1):133. doi: 10.1186/s12920-023-01549-0. PMID: 37322474; PMCID: PMC10268361.

Smith RJH, Azaiez H, Booth K. GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul 20]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301449.

Kocharyan A, Schaefer AM, Smith RJH, Hansen MR. Is Genetic Testing Indicated in a Pediatric Patient with Unilateral Hearing Loss or Single-Sided Deafness? Laryngoscope. 2023 Sep;133(9):2042-2043. doi: 10.1002/lary.30715. Epub 2023 Apr 25. PMID: 37203861.

Tollefson MR, Gogal RA, Weaver AM, Schaefer AM, Marini RJ, Azaiez H, Kolbe DL, Wang D, Weaver AE, Casavant TL, Braun TA, Smith RJH, Schnieders M. Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness Proteome. Res Sq [Preprint]. 2023 Feb 1:rs.3.rs-2508462. doi: 10.21203/rs.3.rs-2508462/v1. Update in: Hum Genet. 2023 Apr 22;: PMID: 36778238; PMCID: PMC9915777.

Klimara MJ, Nishimura C, Wang D, Kolbe DL, Schaefer AM, Walls WD, Frees KL, Smith RJH, Azaiez H. De novo variants are a common cause of genetic hearing loss. Genet Med. 2022 Oct 3:S1098-3600(22)00919-4. doi: 10.1016/j.gim.2022.08.028. Epub ahead of print. PMID: 36194208.

Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J. COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study. Hum Genet. 2022 Apr;141(3-4):889-901. doi: 10.1007/s00439-021-02368-y. Epub 2021 Sep 16. PMID: 34529116.

Seligman KL, Shearer AE, Frees K, Nishimura C, Kolbe D, Dunn C, Hansen MR, Gantz BJ, Smith RJH. Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients. Otolaryngol Head Neck Surg. 2022 Apr;166(4):734-737. doi: 10.1177/01945998211021308. Epub 2021 Jun 22. PMID: 34154485

Thorpe RK, Walls WD, Corrigan R, Schaefer A, Wang K, Huygen P, Casavant TL, Smith RJH. AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss. Hum Genet. 2022 Jan 17. doi: 10.1007/s00439-021-02424-7. Epub ahead of print. PMID: 35038006.

Smith RJH. The hearing-impaired patient: what the future holds. Hum Genet. 2022 Apr;141(3-4):307-310. doi: 10.1007/s00439-022-02447-8. Epub 2022 Mar 15. PMID: 35290517; PMCID: PMC9093598.

Bu F, Zhong M, Chen Q, Wang Y, Zhao X, Zhang Q, Li X, Booth KT, Azaiez H, Lu Y, Cheng J, Smith RJH, Yuan H. DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss. Hum Genet. 2022 Apr;141(3-4):401-411. doi: 10.1007/s00439-022-02440-1. Epub 2022 Feb 19. PMID: 35182233.

Thorpe RK, Azaiez H, Wu P, Wang Q, Xu L, Dai P, Yang T, Schaefer GB, Peters BR, Chan KH, Schatz KS, Bodurtha J, Robin NH, Hirsch Y, Rahbeeni ZA, Yuan H, Smith RJH. The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study. Hum Genet. 2022 Apr;141(3-4):853-863. doi: 10.1007/s00439-021-02340-w. Epub 2021 Aug 23. PMID: 34424407; PMCID: PMC9093589.

Klomp A, Omichi R, Iwasa Y, Smith RJ, Usachev YM, Russo AF, Narayanan NS, Lee A. The voltage-gated Ca2+ channel subunit α2δ-4 regulates locomotor behavior and sensorimotor gating in mice. PLoS One. 2022 Mar 30;17(3):e0263197. doi: 10.1371/journal.pone.0263197. PMID: 35353835; PMCID: PMC8967030.

McDermott JH, Wolf J, Hoshitsuki K, Huddart R, Caudle KE, Whirl-Carrillo M, Steyger PS, Smith RJH, Cody N, Rodriguez-Antona C, Klein TE, Newman WG. Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype. Clin Pharmacol Ther. 2022 Feb;111(2):366-372. doi: 10.1002/cpt.2309. Epub 2021 Jun 20. PMID: 34032273; PMCID: PMC8613315.

West, C. et al. (2022). A Manual Technique for Isolation and Single-Cell RNA Sequencing Analysis of Cochlear Hair Cells and Supporting Cells. In: Groves, A.K. (eds) Developmental, Physiological, and Functional Neurobiology of the Inner Ear. Neuromethods, vol 176. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2022-9_7

Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, Bennetts B, Cooper ST; Australasian Consortium for RNA Diagnostics. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. PMID: 34906502.

Li MM, Tayoun AA, DiStefano M, Pandya A, Rehm HL, Robin NH, Schaefer AM, Yoshinaga-Itano C; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022 Jul;24(7):1392-1406. doi: 10.1016/j.gim.2022.03.018. Epub 2022 May 10. PMID: 35802133.

West C, Ranum PT, Omichi R, Iwasa Y, Klimara MJ, Walls DW, Koh JY, Smith RJH. A Manual Technique for Isolation and Single-Cell RNA Sequencing Analysis of Cochlear Hair Cells and Supporting Cells (2022). In: Groves AK (Ed.) Developmental, Physiological, and Functional Neurobiology of the Inner Ear. Neuromethods, vol 176. New York, NY: Springer Publishing 

Thorpe RK, Azaiez H, Wu P, Wang Q, Xu L, Dai P, Yang T, Schaefer GB, Peters BR, Chan KH, Schatz KS, Bodurtha J, Robin NH, Hirsch Y, Rahbeeni ZA, Yuan H, Smith RJH. The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study. Hum Genet. 2021 Aug 23. doi: 10.1007/s00439-021-02340-w. Epub ahead of print. PMID: 34424407.

Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J. A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. Eur J Hum Genet. 2021 Jan 4. doi: 10.1038/s41431-020-00790-w. Epub ahead of print. PMID: 33398081.

Orvis J, Gottfried B, Kancherla J, Adkins RS, Song Y, Dror AA, Olley D, Rose K, Chrysostomou E, Kelly MC, Milon B, Matern MS, Azaiez H, Herb B, Colantuoni C, Carter RL, Ament SA, Kelley MW, White O, Bravo HC, Mahurkar A, Hertzano R. gEAR: Gene Expression Analysis Resource portal for community-driven, multi-omic data exploration. Nat Methods. 2021 Aug;18(8):843-844. doi: 10.1038/s41592-021-01200-9. PMID: 34172972; PMCID: PMC8996439.

Azaiez H, Thorpe RK, Smith RJH. OTOF-Related Deafness. 2008 Feb 29 [updated 2021 Jan 21]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301429.

Bowles B, Ferrer A, Nishimura CJ, Pinto E Vairo F, Rey T, Leheup B, Sullivan J, Schoch K, Stong N, Agolini E, Cocciadiferro D, Williams A, Cummings A, Loddo S, Genovese S, Roadhouse C, McWalter K; Undiagnosed Diseases Network; Wentzensen IM, Li C, Babovic-Vuksanovic D, Lanpher BC, Dentici ML, Ankala A, Hamm JA, Dallapiccola B, Radio FC, Shashi V, Gérard B, Bloch-Zupan A, Smith RJ, Klee EW. TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. Am J Med Genet A. 2021 Aug;185(8):2417-2433. doi: 10.1002/ajmg.a.62347. Epub 2021 May 27. PMID: 34042254; PMCID: PMC8361973.

Mohseni M, Babanejad M, Booth KT, Jamali P, Jalalvand K, Davarnia B, Ardalani F, Khoshaeen A, Arzhangi S, Ghodratpour F, Beheshtian M, Jahanshad F, Otukesh H, Bahrami F, Seifati SM, Bazazzadegan N, Habibi F, Behravan H, Mirzaei S, Keshavarzi F, Nikzat N, Mehrjoo Z, Thiele H, Nothnagel M, Azaiez H, Smith RJ, Kahrizi K, Najmabadi H. Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran. Clin Genet. 2021 Jul;100(1):59-78. doi: 10.1111/cge.13956. Epub 2021 Mar 24. PMID: 33713422; PMCID: PMC8195868.

Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Rüschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H. A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans. Hum Genet. 2021 Jun;140(6):915-931. doi: 10.1007/s00439-020-02254-z. Epub 2021 Jan 26. PMID: 33496845; PMCID: PMC8099798.

A Unique Phenotype of a Novel AIFM1 Gene Mutation: Case Report and Literature Review. (1905) Oday Halhouli, John Kamholz, Arlene Drack, Richard Smith, TiffanyGrider Neurology Apr 2021, 96 (15 Supplement) 1905;

Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA; ClinGen Hearing Loss Clinical Domain Working Group. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss. Genet Med. 2021 Nov;23(11):2208-2212. doi: 10.1038/s41436-021-01254-2. Epub 2021 Jul 6. PMID: 34230634; PMCID: PMC8556313.