Hearing publications

2020

  • Booth KT, et al. Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss Hum Genet. doi:10.1007/s00439-020-02197-5
  • Booth KT, Azaiez H, Smith RJH. DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot? Int J Mol Sci. 2020 May 31;21(11):E3951. doi: 10.3390/ijms21113951. PMID: 32486382.
  • Omichi R, Yoshimura H, Shibata SB, Vandenberghe LH, Smith RJH. Hair Cell Transduction Efficiency of Single- and Dual-AAV Serotypes in Adult Murine Cochleae. Mol Ther Methods Clin Dev. 2020 May 13;17:1167-1177. doi:10.1016/j.omtm.2020.05.007. PMID: 32518805; PMCID: PMC7270144.
  • Walls WD, Moteki H, Thomas TR, Nishio SY, Yoshimura H, Iwasa Y, Frees KL, Nishimura CJ, Azaiez H, Booth KT, Marini RJ, Kolbe DL, Weaver AM, Schaefer AM, Wang K, Braun TA, Usami SI, Barr-Gillespie PG, Richardson GP, Smith RJ, Casavant TL. A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations. Hum Genet. 2020 May 7. doi:10.1007/s00439-020-02174-y. Epub ahead of print. PMID: 32382995.
  • Morín M, Borreguero L, Booth KT, Lachgar M, Huygen P, Villamar M, Mayo F, Barrio LC, Santos Serrão de Castro L, Morales C, Del Castillo I, Arellano B, Tellería D, Smith RJH, Azaiez H, Moreno Pelayo MA. Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants. Sci Rep. 2020 Apr 10;10(1):6213. doi: 10.1038/s41598-020-63256-5. PMID: 32277154; PMCID: PMC7148344.
  • Stiff HA, Sloan-Heggen CM, Ko A, Pfeifer WL, Kolbe DL, Nishimura CJ, Frees KL, Booth KT, Wang D, Weaver AE, Azaiez H, Kamholz J, Smith RJH, Drack AV. Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss. Ophthalmic Genet. 2020 Apr;41(2):151 158. doi: 10.1080/13816810.2020.1747088. Epub 2020 Apr 13. PMID:32281467.
  • Denoyelle F, Simon F, Chang KW, Chan KH, Cheng AG, Cheng AT, Choo DI, Daniel SJ, Farinetti A, Garabedian EN, Greinwald JH, Hoff SR, Hone S, Licameli GR, Papsin BC, Poe DS, Pransky S, Smith RJH, Triglia JM, Walton J, Zalzal G, Leboulanger N. International Pediatric Otolaryngology Group (IPOG) Consensus Recommendations: Congenital Cholesteatoma. Otol Neurotol. 2020 Mar;41(3):345-351. doi: 10.1097/MAO.0000000000002521. PMID: 31851066.
  • Peterson J, Nishimura C, Smith RJH. Genetic Testing for Congenital Bilateral Hearing Loss in the Context of Targeted Cytomegalovirus Screening. Laryngoscope. 2020 Jan 27. doi: 10.1002/lary.28536. Epub ahead of print. PMID: 31985074.
  • Fayoux P, Daniel SJ, Allen G, Balakrishnan K, Boudewyns A, Cheng A, De Alarcon A, Goel D, Hart CK, Leboulanger N, Lee G, Moreddu E, Muntz H, Rahbar R, Nicollas R, Rogers-Vizena CR, Russell J, Rutter MJ, Smith RJH, Wyatt M, Zalzal G, Resnick CM. International Pediatric ORL Group (IPOG) Robin Sequence consensus recommendations. Int J Pediatr Otorhinolaryngol. 2020 Mar;130:109855. Doi: 10.1016/j.ijporl.2019.109855. Epub 2019 Dec 28. PMID: 31896499.

2019

  • Demain LAM, Gerkes EH, Smith RJH, Molina-Ramirez LP, O'Keefe RT, Newman WG. A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. J Hum Genet. 2020 Mar;65(3):305-311. doi: 10.1038/s10038-019-0706-1. Epub 2019 Dec 12. PMID: 31827252.
  • Chan KH, Dinwiddie JK, Ahuja GS, Bennett EC, Brigger MT, Chi DH, Choo DI, Cunningham MJ, Elluru RG, Giannoni CM, Goudy SL, Koempel JA, MacArthur CJ, Malone B, Messner AH, Mitchell RB, Park AH, Richter GT, Rosbe KW, Shah UK, Sie KCY, Smith RJ, Sulman CG, Thompson JW, Thorne MC, Wei JL, Wetmore RF, White DR, Zalzal GH, Schoem SR. Advanced practice providers and children's hospital-based pediatric otolarynology practices. Int J Pediatr Otorhinolaryngol. 2020 Feb;129:109770. doi: 10.1016/j.ijporl.2019.109770. Epub 2019 Nov 7. PMID: 31733596.
  • Bazazzadegan N, Vazehan R, Fadaee M, Fattahi Z, Abolhassani A, Parsimehr E, Kalhor Z, Faraji Zonooz M, Ahangari F, Dehdahsi S, Samiee F, Jamali P, Habibi H, Nourizadeh Y, Mahdavi S, Beheshtian M, Kariminejad A, Smith RJ, Najmabadi H. Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period. Iran J Public Health. 2019 Oct;48(10):1910-1915. PubMed PMID: 31850270; PubMed Central PMCID: PMC6908923.
  • Tollefson MR, Litman JM, Qi G, O'Connell CE, Wipfler MJ, Marini RJ, Bernabe HV, Tollefson WTA, Braun TA, Casavant TL, Smith RJH, Schnieders MJ. Structural Insights into Hearing Loss Genetics from Polarizable Protein Repacking. Biophys J. 2019 Jul 3. pii: S0006-3495(19)30538-7. doi: 10.1016/j.bpj.2019.06.030. [Epub  ahead of print] PubMed PMID: 31327459.
  • Omichi R, Shibata SB, Morton CC, Smith RJH. Gene therapy for hearing loss. Hum Mol Genet. 2019 Jun 22. pii: ddz129. doi: 10.1093/hmg/ddz129. [Epub ahead of print] PubMed PMID: 31227837.
  • Shearer AE, Shen J, Amr S, Morton CC, Smith RJ; Newborn Hearing Screening Working Group of the National Coordinating Center for the Regional Genetics Networks. A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children. Genet Med. 2019 Jun 7. doi:  10.1038/s41436-019-0563-5. [Epub ahead of print] Erratum in: Genet Med. 2019 Jun 18; PubMed PMID: 31171844.
  • Moreddu E, Rizzi M, Adil E, Balakrishnan K, Chan K, Cheng A, Daniel SJ, de Alarcon A, Hart C, Hartnick C, Inglis A, Leboulanger N, Pransky S, Rahbar R, Russell J, Rutter M, Sidell D, Smith RJH, Soma M, Spratley J, Thompson D, Trozzi M, Ward R, Wyatt M, Yeung J, Zalzal G, Zur K, Nicollas R. International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Diagnosis, pre-operative, operative and post-operative pediatric choanal atresia care. Int J Pediatr Otorhinolaryngol. 2019 Aug;123:151-155. doi: 10.1016/j.ijporl. 2019.05.010. Epub 2019 May 13. Review. PubMed PMID: 31103745.
  • Ranum PT, Goodwin AT, Yoshimura H, Kolbe DL, Walls WD, Koh JY, He DZZ, Smith RJH. Insights into the Biology of Hearing and Deafness Revealed by Single-Cell RNA Sequencing. Cell Rep. 2019 Mar 12;26(11):3160-3171.e3. doi: 10.1016/j.celrep.2019.02.053. PubMed PMID: 30865901; PubMed Central PMCID: PMC6424336.
  • DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna  M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 Mar 21. doi: 10.1038/s41436-019-0487-0. [Epub ahead of print] Erratum in: Genet Med. 2019 May 22. PubMed PMID: 30894701.
  • Yoshimura H, Shibata SB, Ranum PT, Moteki H, Smith RJH. Targeted allele suppression prevents progressive hearing loss in the mature murine model of human TMC1 Deafness. Mol Ther. 2019 Mar 6;27(3):681-690. doi: 10.1016/j.ymthe.2018.12.014. Epub 2019 Jan 7. PubMed PMID: 30686588.

2018

  • Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD. Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. Genet Med. 2018 Sep 24. doi: 10.1038/s41436-018-0285-0. [Epub ahead of print] PubMed PMID: 30245514.
  • Sheffield AM, Smith RJH. The Epidemiology of Deafness. Cold Spring Harb Perspect Med. 2018 Sep 24. pii: a033258. doi: 10.1101/cshperspect.a033258. [Epub ahead of print] PubMed PMID: 30249598.
  • Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Shearer AE, Sloan-Heggen CM, Kolbe D, Casavant T, Schnieders MJ, Nishimura C, Braun T, Smith RJH. Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. Am J Hum Genet. 2018 Oct 4;103(4):484-497. doi: 10.1016/j.ajhg.2018.08.006. Epub 2018 Sep 20. PubMed PMID: 30245029; PubMed Central PMCID: PMC6174355.
  • Avenarius MR, Jung JY, Askew C, Jones SM, Hunker KL, Azaiez H, Rehman AU, Schraders M, Najmabadi H, Kremer H, Smith RJH, Géléoc GSG, Dolan DF, Raphael Y, Kohrman DC. Grxcr2 is required for stereocilia morphogenesis in the cochlea. PLoS One. 2018 Aug 29;13(8):e0201713. doi: 10.1371/journal.pone. 0201713. eCollection 2018. PubMed PMID: 30157177; PubMed Central PMCID: PMC6114524.
  • Shearer AE, Frees K, Kolbe DL, Smith RJH.  Comprehensive genetic testing for deafness from fresh and archived dried blood spots.  Otolaryngol Head Neck Surg. 2018 Aug 28. doi.org/10.1177/0194599818797291 [Epub ahead of print]
  • Booth KT, Azaiez H, Jahan I, Smith RJH, Fritzsch B. Intracellular regulome variability along the organ of Corti: evidence, approaches, challenges and perspective. Front Genet. 2018 May 8;9:156. doi: 10.3389/fgene.2018.00156. eCollection 2018. Review. PubMed PMID: 29868110; PubMed Central PMCID:PMC5951964.
  • Booth KT, Kahrizi K, Najmabadi H, Azaiez H, Smith RJ. Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment. J Med Genet. 2018 Apr 27. pii: jmedgenet-2018-105349. doi: 10.1136/jmedgenet-2018-105349. [Epub ahead of print]. 55(8): 555-560, 2018. PubMed PMID: 29703829.
  • Yoshimura H, Shibata SB, Ranum PT, Smith RJH. Enhanced viral-mediated cochlear gene delivery in adult mice by combining canal fenestration with round window membrane inoculation. Sci Rep 2018 Feb 14;8(1):2980. doi: 10.1038/s41598-018-21233-z.

2017

  • Imtiaz A, Belyansteva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bouzid A, Shaukat U, Bukhari I, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, Hoa M, Dong L, Morell RJ, Smith RJ, Riazuddin S, Masmoudi S, Kindt K, Naz S, Friedman TB. CDC14A phosphatase activity is essential for hearing and male fertility. Hum Mol Genet 2017 Dec 23. doi: 10.1093/hmg/ddx440. [Epub ahead of print] PubMed PMID: 29293958.
  • Booth KT, Azaiez H, Kahrizi K, Wang D, Zhang Y, Frees K, Nishimura C, Najmabadi H, Smith RJ. Exonic mutations and exon skipping: lessons learned from DFNA5. Hum Mut 2017 Dec 19. Doi: 10.1002/humu.23384. [Epub ahead of print]. 2018 Mar;39(3):433-440. PMID: 29266521.
  • Booth KT, Kahrizi K, Babanejad M, Daghagh H, Bademci G, Arzhangi S, Zareabdollahi D, Duman D, El-Amraoui A, Tekin M, Najmabadi H, Azaiez H, Smith RJ. Variants in CIB2 cause DFNB48 and not USH1J. Clin Genet. 2017 Nov 7. doi: 10.1111/cge.13170. 2018 Feb 12 [Epub ahead of print] 2018 Apr;93(4):812-821. doi: 10.1111/cge.13170. PMID: 29112224PubMed PMID: 29112224.
  • Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbé M, Emptoz A, Lelli A, Dégardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A. CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival. EMBO Mol Med. 2017 Dec;9(12):1711-1731. doi: 10.15252/emmm.201708087. PubMed PMID: 29084757.
  • Shibata SB, Yoshimura H, Ranum PT, Goodwin AT, Smith RJH. Intravenous rAAV2/9 injection for murine cochlear gene delivery. Sci Rep 2017 Aug 29;7(1):9609. doi: 10.1038/s41598-017-09805-x. PubMed PMID: 28852025; PubMed Central PMCID: PMC5575199.
  • Yan D, Xiang G, Chai X, Qing J, Shang H, Zou B, Mittal R, Shen J, Smith RJ, Fan YS, Blanton SH, Tekin M, Morton C, Xing W, Cheng J, Liu XZ. Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach. PLoS One. 2017 Mar 8;12(3):e0169219. doi:10.1371/journal.pone.0169219. eCollection 2017. PubMed PMID: 28273078; PubMed Central PMCID: PMC5342170.
  • Shearer AE, Eppsteiner RW, Frees K, Tejani V, Sloan-Heggen CM, Brown C, Abbas P, Dunn C, Hansen MR, Gantz BJ, Smith RJ. Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance. Hear Res. 2017 Feb 15. pii: S0378-5955(16)30600-1. doi: 10.1016/j.heares.2017.02.008. [Epub ahead of print] PubMed PMID: 28213135.
  • Korver AM, Smith RJ, Van Camp G, Schleiss MR, Bitner-Glindzicz MA, Lustig LR, Usami SI, Boudewyns AN. Congenital hearing loss. Nat Rev Dis Primers. 2017 Jan 12;3:16094. doi: 10.1038/nrdp.2016.94. Review. PubMed PMID: 28079113.

2016

  • Liming BJ, Carter J, Cheng A, Choo D, Curotta J, Carvalho D, Germiller JA, Hone S, Kenna MA, Loundon N, Preciado D, Schilder A, Reilly BJ, Roman S, Strychowsky J, Triglia JM, Young N, Smith RJ. International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patient. Int J Pediatr Otorhinolaryngol. 2016 Nov;90:251-258. doi: 10.1016/j.ijporl.2016.09.016. Review. PubMed PMID: 27729144.
  • Beheshtian M, Babanejad M, Azaiez H, Bazazzadegan N, Kolbe D, Sloan Heggen C, Arzhangi S, Booth K, Mohseni M, Frees K, Azizi MH, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Najmabadi H. Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review. Arch Iran Med. 2016 Oct 1; 19(10):720-728. PubMed PMID: 27743438.
  • Sloan-Heggen CM, Smith RJ. Navigating genetic diagnostics in patients with hearing loss. Curr Opin Pediatr. 2016 Aug 20. [Epub ahead of print] PMID: 27552069; 28(6):705-712, 2016.
  • Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI. Detection and confirmation of deafness-causing copy number variations in the STRC gene by massively parallel sequencing and comparative genomic hybridization. Ann Otol Rhinol Laryngol. 2016 Jul 28 [Epub ahead of print]. pii: 0003489416661345. PubMed PMID: 27469136.
  • Lebeko K, Sloan-Heggen CM, Naubiap JJ, Dandara C, Kolbe DL, Ephraim SS, Booth KT, Azaiez H, Santos-Cortez RL, Leal SM, Smith RJ, Wonkam A. Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.  Clin Genet. 2016 Jun 1 [Epub ahead of print] 90(3):288-90, 2016. PMID: 27246798.  
  • Shibata SB, Ranum PT, Moteki H, Pan B, Goodwin AT, Goodman SS, Abbas PJ, Holt JR, Smith RJH. RNA interference prevents autosomal dominant hearing loss. Am J Hum Genet. 2016 May 26, 2016 [Epub ahead of print] 98: 1101-13, 2016.
  • Kemerley A, Sloan C, Pfeifer W, Smith RJ, Drack A. A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations. Ophthalmic Genet. 2016 Apr 20:1-5. [Epub ahead of print] PubMed PMID: 27096712.
  • Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE,  Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJ. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016 Apr;135(4):441-50. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11. PubMed PMID: 26969326.

2015

  • Taylor KR, Booth KT, Azaiez H, Sloan CM, Kolbe DL, Glanz EN, Shearer AE, DeLuca AP, Anand VN, Hildebrand MS, Simpson AC, Eppsteiner RW, Scheetz TE, Braun TA, Huygen PLM, Smith RJH, Casavant TL.  Audioprofile surfaces: the 21st century audiogram.  Ann Otol Rhinol Laryngol 2015 Nov 3 [Epub ahead of print] 125(5):361-8, 2016.
  • Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H. Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet. 2015 Oct 7 [Epub ahead of print] PubMed PMID: 26445815. 52(12):823-9, 2015.
  • Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ. PDZD7 and hearing loss: More than just a modifier. Am J Med Genet A. 2015 Sep 29 [Epub ahead of print] PubMed PMID: 26416264, 167(12):2957-65, 2015.
  • Moteki H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Nishio SY, Hattori M, Usami SI, Smith RJ. Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.Clin Genet. 2015 Sep 8 [Epub ahead  of print]  doi: 10.1111/cge.12677.
  • Jayawardena A, Shearer AE, Smith RJH. Sensorineural hearing loss – a changing paradigm for its evaluation. Otolaryngol Head Neck Surg 2015 Jul 27  [Epub ahead of print], 153(5):843-50, 2015.
  • Shearer AE, Smith RJ.  Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care.  Otolaryngol Head Neck Surg 2015 Jun 17 [Epub ahead of print]; 153(2):175-82, 2015.
  • Zong L*, Guan J*, Ealy M*, Zhang Q, Wang D, Wang H, Zhao Y, Shen Z, Campbell CA, Wang F, Yang J, Sun W, Lan L, Ding D, Xie L, Qi Y, Lou X, Huang X, Shi Q, Chang S, Xiong W, Yin Z, Yu N, Zhao H, Wang J, Wang J, Salvi R, Petit C, Smith RJH*, Wang Q*.  Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.  J Med Genet 2015 May 18 [Epub ahead of print]; 52(8):523-31, 2015 (*equal contribution).
  • Azaiez H#, Decker AR*, Booth KT*, Simpson AC*, Shearer AE, Huygen PLM, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJH. HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. PLOS Genetics 2015 Mar 27, DOI: 10.1371/journal.pgen.1005137 (*Co-second authors) (#Cover issue).
  • Moteki H, Azaiez H, Booth KT, Hattori M, Sato A, Sato Y, Motobayashi M, Sloan CM, Kolbe DL, Shearer AE, Smith RJ, Usami SI. Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation. Ann Otol Rhinol Laryngol 2015 Mar 18. pii: 03489415575045. [Epub ahead of print] PubMed PMID: 25788561.
  • Sakuma N, Moteki H, Azaiez H, Booth KT, Takahashi M, Arai Y, Shearer AE, Sloan CM, Nishio SY, Kolbe DL, Iwasaki S, Oridate N, Smith RJ, Usami SI. Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss. Ann Otol Rhinol Laryngol 2015 Mar 18. pii: 003489415575041. [Epub ahead of print] PubMed PMID: 25788564.
  • Moteki H, Shearer AE, Izumi S, Kubota Y, Azaiez H, Booth KT, Sloan CM, Kolbe DL, Smith RJ, Usami SI. De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss. Ann Otol Rhinol Laryngol 2015 Mar 19. pii: 0003489415575042. [Epub ahead of print] PubMed PMID: 25792666.
  • Mori K, Moteki H, Kobayashi Y, Azaiez H, Booth KT, Nishio SY, Sato H, Smith RJ, Usami SI. Mutations in LOXHD1 gene cause various types and severities of hearing loss. Ann Otol Rhinol Laryngol 2015 Mar 19. pii: 0003489415574067. [Epub ahead of print] PubMed PMID: 25792669.
  • Moteki H, Yoshimura H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Murata T, Smith RJ, Usami SI. USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms. Ann Otol Rhinol Laryngol. 2015 Mar 5. pii: 0003489415574070. [Epub ahead of print] PubMed PMID: 25743181.

2014

  • Rehman AU, Santos-Cortez RLP, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M,2,5 Abid Jan, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJH, Shendure J, Bamshad MJ, Nickerson DA, Hinnant J, Khan SN, Fisher RA, Ahmad W, Friderici KH, Riazuddin S, Friedman TB, Wilch ES, Leal SM. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet 2014 Dec 10 [Epub ahead of print].
  • Shearer AE, Eppsteiner RW*, Booth KT*, Ephraim SS*, Gurrola J, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJH. Utilizing ethnic-specific differences in minor allele frequency to re-categorize reported pathogenic deafness variants.  Am J Hum Genet 2014 Sept 25 [Epub ahead of print]; 95(4):445-53, 2014. 
  • Ephraim SS, Anand N, DeLuca AP, Taylor KR, Kolbe DL, Simpson AC, Azaiez H, Sloan CM, Shearer AE, Hallier AR, Casavant TL, Scheetz TE, Smith RJ, Braun TA. Cordova: web-based management of genetic variation data. Bioinformatics 2014 Aug 14 [Epub ahead of print]; 30(23):3438-9, 2014.
  • Shearer AE, Kolbe DL, Azaiez H, Sloan CM, Frees KL, Weaver AE, Clark ET, Nishimura CJ, Black-Ziegelbein EA, Smith RJ. Copy number variants are a common cause of non-syndromic hearing loss. Genome Med 2014 May 22; 6(5):37, 2014; doi: 10.1186/gm554. eCollection 2014.
  • Azaiez H, Booth KT, Bu F, Huygen P, Shibata S, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ.  TBC1D24 mutation causes autosomal dominant non-syndromic hearing loss. Hum Mut 2014 May 6 [Epub ahead of print]; 35(7):819-23, 2014.
  •  Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, Dechene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzy Ski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, Macarthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, Deluca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovre I L, Palanda I A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol 2014 Mar 25 [Epub ahead of print]; 15(3): 2014. (Led the UI team that placed second in the international CLARITY Challenge).
  • Ealy M, Meyer NC, Corchado JC, Schrauwen I, Baur M, Pfister M, Van Camp G, Smith RJH. Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.  Otol Neurotol 2014 Jan 31 [Epub ahead of print]; 35(3): 395-400, 2014.

2013

  • Brophy PD, Alasti F, Darbro B, Clarke J, Nishimura C, Smith RJ, Manak JR. Genome-wide copy number variation analysis of a Branchio-Oto-Renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.  Hum Genet 2013 Jul 13 [Epub ahead of print]; 132:1339-50, 2013.
  • Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, DeLuca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, LeProust EM, Smith RJH. Advancing genetic testing for deafness with genomic technology. J Med Genet 2013 Jun 26 [Epub ahead of print]; 50:627-634, 2013.
  • Buniello A, Hardisty-Hughes R, Pass J, Lewis M, Bober E, Smith RJ, Steel KP. Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness.  PLoS ONE 2013 Feb 14 [Epub ahead of print]; 8(2):e56274, 2013.
  • TaylorKR, DeLuca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PLM, Smith RJH, Braun TA, Casavant TL. AudioGene:  predicting hearing loss genotypes from phenotypes to guide genetic screening.  Hum Mut 2012 Dec 24 [Epub ahead of print]; 34(4):539-45, 2013.
  • Shearer EA, Hildebrand MS, Ravi  H, Joshi  S, Guiffre AC, Novak  B, Happe  S, LeProust EM, Smith RJH. Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment.  BMC Genomics 2012 Nov 14 [Epub ahead of print]; 13:618; 2012.

2012

  • Shearer AE, Smith RJH.  Genetics: advances in the genetic testing for deafness.  Curr Opin Pediatr 2012 Oct 4 [Epub ahead of print]; 24(6):679-687, 2012.
  • Eppsteiner RW, Shearer AE, Hildebrand MS, DeLuca AP, Ji H, Dunn CC, Black-Ziegelbein EA, Casavant TL, Scheetz TE, Braun T, Scherer S, Hansen MR, Gantz BJ, Smith RJH.  Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.  Hear Res 2012 Aug 28 [Epub ahead of print]; 292:51-8, 2012. 
  • Nakano Y, Jahan I, Bonde G, Sun X, Hildebrand MS, Engelhardt JF, Smith RJH, Cornell RA, Fritzsch B, Bánfi B. A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx Waltzer mouse.  PLOS Genet 2012 Oct 4 [Epub ahead of print]; 8(10):e1002966, 2012.
  • Eppsteiner RW, Shearer AE, Hildebrand MS, Taylor KR, Deluca, AP, Scherer S, Huygen P, Scheetz TE, Braun TA, Casavant TL, Smith RJ. Using the phenome and genome to improve genetic diagnosis for deafness. Otolaryngol Head Neck Surg 2012 Jul 11 [Epub ahead of print]; 147(5):975-7, 2012.
  • Babanejad M, Fattahi Z, Bazazzadegan N, Nishimura C, Meyer N, Nikzat N, Sohrabi E, Najmabadi A, Jamali P, Habibi F, Smith RJH, Kahrizi K, Najmabadi H. A comprehensive study to determine heterogeneity of autosomal recessive non-syndromic hearing loss in Iran. Am J Med Genet 2012 Jun 23 [Epub ahead of print]; 158A(10):2485-92, 2012.
  • Bazazzadegan N, Nikzat N, Fattahi Z, Nishimura C, Meyer N, Sahraian S, Jamali P, Babanejad M, Kashef A, Yazdan H, Sabbagh Kermani F, Taghdiri M, Azadeh B, Mojahedi F, Khoshaeen A, Habibi H, Reyhanifar F, Nouri N, Smith RJ, Kahrizi K, Najmabadi H.  The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss-A twelve year study. Int J Pediatr Otorhinolaryngol 2012 Jun 11 [Epub ahead of print]; 76:1164-74, 2012.
  • Shearer AE, Hildebrand MS, Smith RJH. Solution-based targeted genomic enrichment for precious DNA samples. BMC Biotechnol 2012 May 4 [Epub ahead of print]; 12:20. doi: 10.1186/1472-6750-12-20.
  • Schrauwen I, Khalfallah A, Ealy M, Fransen E, Claes C, Huber A, Murillo LR, Masmoudi S, Smith RJH, Van Camp G. COL1A1 association and otosclerosis: a meta-analysis. Am J Med Genet 2012 Apr 9 [Epub ahead of print]; 158A(5):1066-70, 2012.
  • Davarnia B, Babanejad M, Nikzat N, Fattahi Z, Bazazzadegan N, Pirzade A, Farajollahi R, Nishimura C, Jalalvand K, Arzhangi S, Kahrizi K, Smith RJH, Najmabadi H. Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss. Int J Pediatr Otorhinolarynol 2011 Dec 13 [Epub ahead of print]; 76(2):268-71, 2012.
  • Fattahi Z, Shearer AE, Babanejad M, Bazazzadegan N, Almadani SN, Nikzat N, Jalalvand K, Arzhangi S, Fatemehsadat E, Abtahi R, Azadeh B, Smith RJH, Kahrizi K, Najmabadi H. Screening for MYO15A gene mutations in an autosomal recessive non-syndromic, GJB2-negative Iranian deaf population. Am J Med Genet 2012 Jun 26 [Epub ahead of print]; 158A(8):1857-64, 2012.

2011

  • Fletcher A, Padegar NA, Smith RJH.  Factors correlating with burnout in practicing otolaryngologists. Otolaryngol Head Neck Surg 2011 Nov 10 [Epub ahead of print]; 146:234-236, 2012.
  • Shearer AE, Hildebrand MS, Sloan CM, Smith RJH. Deafness in the genomics era. Hear Res 2011 Oct 8 [Epub ahead of print]; 282(1-2):1-9, 2011.
  • Smith KR, Bromhead CJ, Hildebrand MS, Shearer AE, Lockhart PJ, Najmabadi H, Leventer RJ, McGillivray G, Amor DJ, Smith RJ, Bahlo M. Method: Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biol 2011 Sep 14 [Epub ahead of print]; 12:R85, 2011.
  • Eppsteiner RW, Smith RJH. Genetic disorders of the vestibular system.  Cur Op Otolaryngol Head Neck Surg 2011 Aug 5 [Epub ahead of print]; 19(5):397-402, 2011.
  • Sheffield AM, Gubbels SP, Hildebrand MS, Newton SS, Chiorini JA, Di Pasquale G, Smith RJH.  Viral vector tropism for supporting cells in the developing murine cochlea.  Hear Res 2011 Apr 22 [Epub ahead of print]; 277:28-36, 2011.
  • Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Van Wesemael M, Lachlan K, Shearer AE, Braun TA, Huygen PLM, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJH, Moreno-Pelayo MA. DFNA8/12 caused by TECTA mutations is the most common identified subtype of non-syndromic autosomal dominant hearing loss.  Hum Mut 2011 Apr 21 [Epub ahead of print]; 32:825-34, 2011.
  • Ealy M, Lynch KA, Meyer NC, Smith RJH. The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in a NICU population. Laryngoscope 2011 Apr 14 [Epub ahead of print]; 121(6):1184-6, 2011.
  • Gurgel RK, Miller RA, Smith RJH.  Use of portfolios in otolaryngology graduate medical education. Laryngoscope 2011 Apr 11 [Epub ahead of print]; 121(6):1173-6, 2011.
  • Bazazzadegan N, Sheffield AM, Sobhani M, Kahrizi K, Meyer NC, Van Camp G, Hilgert N, Abedini SS, Habibi FD, Daneshi A, Nishimura C, Avenarius MR, Farhadi M, Smith RJH, Najmabadi H. Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. Am J Med Genet 2011 Apr 11 [Epub ahead of print]; 155:1201-11, 2011.
  • Kimberling WJ, Borsa N, Smith RJ. Hearing loss disorders associated with renal disease. Adv Otorhinolaryngol. 2011 Feb 24 [Epub ahead of print]; 70:75-83, 2011.
  • Ealy M, Smith RJ. Otosclerosis. Adv Otorhinolaryngol. 2011 Feb 24 [Epub ahead of print]; 70:122-9, 2011
  • Charizopoulou N, Lelli A, Schraders M, Ray K, Hildebrand MS, Ramesh A, Srisailapathy CRS, Oostrik J, Admiraal RJC, Neely HR, Latoche JR, Smith RJH, Northup JK, Kremer H, Holt JR, Noben-Trauth K. Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.  Nature Commun 2011 Feb 15 [Epub ahead of print]; 2:201, 2011.
  • Zheng J, Miller KK, Yang T, Hildebrand MS, Shearer AE, DeLuca AP, Scheetz TE, Drummond J, Scherer S, Legan PK, Goodyear R, Richardson G, Cheatham MA, Smith RJH, Dallos P. CEACAM16 - a protein produced by cochlear outer hair cells - interacts with α-tectorin and is mutated in DFNA4 hearing loss. Proc Nat Acad Sci 2011 Feb 22 [Epub ahead of print]; 108:4218-23, 2011.
  • Norouzi V, Azizi H, Esteghamat F, Bazazzadegan N, Fattahi Z, Nishimura C, Nikzat N, Jalalvand N, Kahrizi K, Smith RJH, Najmabadi H. Did the GJB2 35delG mutation originate in Iran? Am J Med Genet 2011 Sep 9 [Epub ahead of print]; 155A:2453-8, 2011.
  • Borck G, Rehman AU, Lee K, Pogoda H-M, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan D, Schiller M, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P,  Wollnik B, Riazuddin S, Smith RJH, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet 2011 Jan 20 [Epub ahead of print]; 88:127-138, 2011.
  • Nimmakayalu M, Major H, Qian Q, Sheffield V, Solomon DH, Smith RJH, Patil SH, Shchelochkov OA. Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with thyroid duct cyst, sensorineural hearing loss, tracheomalacia and pulmonary hypertension. Am J Med Genet 2011 Jan 13 [Epub ahead of print]; 155(2):418-23, 2011.

2010

  • Hildebrand MS, Kahrizi K, Bromhead CJ, Shearer AE, Webster JA, Khodaei H, Abtahi R, Bazazzadegan N, Babanejad M, Nikzat N, Kimberling WJ, Stephan D, Huygen PLM, Bahlo M, Smith RJH, Najmabadi H. Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. Ann Otol Rhinol Laryngol 119(12):830-35, 2010.
  • Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola II J, Scherer S, Scheetz TE, Smith RJH. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Nat Acad Sci 2010 Nov 15 [Epub ahead of print]; 107(49):21104-9, 2010.
  • Hildebrand MS, Gandolfo L, Shearer AE, Webster JA, Jensen M, Kimberling WJ, Stephan D, Huygen PLM, Smith RJH, Bahlo M. A novel mutation in COCH – implications for genotype-phenotype correlations in DFNA9 hearing loss. Laryngoscope 2010 Nov 7 [Epub ahead of print]; 120(12):2489-93, 2010.
  • Maeda Y, Fukushima K, Hirai M, Kariya S, Smith RJH, Nishizaki K.  Microarray analysis of the effect of dexamethasone on murine cochlear explants. Acta Otolaryngol 2010 Aug 24 [Epub ahead of print]; 130(12):1329-34, 2010.
  • Hildebrand MS, Avenarius MR, Fellous M, Zhang Y, Meyer NC, Auer J, Serres C, Kahrizi K, Najmabadi H, Beckmann JS, Smith RJH. Genetic male infertility and mutation of CATSPER ion channels. Eur J Hum Genet 2010 Jul 21 [Epub ahead of print]; 18(11):1178-84, 2010.
  • Khalfallah A, Schrauwen I, Mnaja M, Fransen E, Lahmar I, Ealy M, Dhouib L, Ayadi H, Charfedine I, Driss N, Ghorbel A, Smith RJH, Masmoudi S, Van Camp G. Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia. Ann Hum Genet 2010 Jul 14 [Epub ahead of print]; 74(5): 399-405, 2010.
  • Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Cohn ES, Weleber RG, Stone EM, Smith RJH. Prevalence of Usher Syndrome in Two Pediatric Populations: Implications for genetic screening of deaf and hard of hearing children. Genet Med 12: 2010 Jul 6 [Epub ahead of print]; 12(8):512-6, 2010.
  • Ealy M, Smith RJH.  The genetics of otosclerosis. Hearing Res 2009 July 13 [Epub ahead of print]; 266(1-2):70-4, 2010.
  • Yang T, Kahrizi K, Bazazzadeghan N, Meyer N, Najmabadi H, Smith RJ. A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus. Clin Genet. 77(4):395-8, 2010.
  • Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJH, Kohrman DC. Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. Am J Hum Genet 2010 Feb 4 [Epub ahead of print]; 86:1-13, 2010.
  • Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, da Silva Costa SM, del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato E, Schneider E, van Camp G, Wuyts W, Smith RJH, Friderici KH.  A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.  Clin Genet 2010 Mar 1 [Epub ahead of print]; 78(3):267-74, 2010.
  • Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJH.  Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.  Clin Genet 2010 Feb 6 [Epub ahead of print]; 77(6):563-71, 2010.
  • Saϊd MB, Aifa-Hmani M, Amar I, Baig SM, Weil D, Ghorbel A, Ayadi H, Van Camp G, Smith RJH, Tekin M, Masmoudi S.  High frequency of the p.R34X mutation in the TMC1 gene associated with non-syndromic hearing loss is due to founder effects. Genet Test Mole Biomark 2010 Apr 7 [Epub ahead of print].
  • Gurgel RK, Schiff B, Flint J, Miller R, Zahtz G, Smith RV, Fried MP, Smith RJH. The Role of Mentoring in Otolaryngology Training Programs. Otolaryngol Head Neck Surg 142:487-492, 2010.
  • Hildebrand MS. Witmer PD, Xu S, Newton SS, Kahrizi K, Najmabadi H, Valle D, Smith RJH. miRNA Mutations are Not a Common Cause of Deafness. Am J Med Genet 2009 [Epub ahead of print]; 152A:646-652, 2010.
  • Campbell CA, Della Santina CC, Meyer NC, Smith NB, Myrie OA, Stone EM, Fukushima K, Califano J, Carey JP, Hansen MR, Gantz BJ, Minor LB, Smith RJH. Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population. Am J Med Genet 2009 Dec 22 [Epub ahead of print]; 152:67-74, 2010.
  • Schrauwen I, Ealy M, Fransen E, Vanderstraeten K, Thys M, Meyer NC, Cosgarea M, Huber A, Mazzoli M, Pfister M, Smith RJ, Van Camp G. Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations. Hum Genet 2009 [Epub ahead of print]; 127:155-62, 2010.