2023

  • 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.

  • Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB. Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. PMID: 36807241.

  • 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.

  • 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.

  • Schmidt CQ, Smith RJH. Protein therapeutics and their lessons: Expect the unexpected when inhibiting the multi-protein cascade of the complement system. Immunol Rev. 2023 Jan;313(1):376-401. doi: 10.1111/imr.13164. Epub 2022 Nov 18. PMID: 36398537.

  • Pisarenka S, Meyer NC, Xiao X, Goodfellow R, Nester CM, Zhang Y, Smith RJH. Modeling C3 glomerulopathies: C3 convertase regulation on an extracellular matrix surface. Front Immunol. 2023 Jan 18;13:1073802. doi: 10.3389/fimmu.2022.1073802. PMCID: PMC9947773.

  • Culek, Christopher T.; Nester, Carla M.. A Nef Precursor or Benign Counterpart: High Prevalence of Healthy Subjects with Antibody Reactivity to the C3-Convertase. Kidney360 4(11):p 1615-1622, November 2023. | DOI: 10.34067/KID.0000000000000260

  • Marina Vivarelli, Andrew S. Bomback, Matthias Meier, Yaqin Wang, Nicholas J.A. Webb, Uday Kiran Veldandi, Richard J.H. Smith, David Kavanagh,
    Iptacopan in Idiopathic Immune Complex–Mediated Membranoproliferative Glomerulonephritis: Protocol of the APPARENT Multicenter, Randomized Phase 3 Study,
    Kidney International Reports, 2023, ISSN 2468-0249, https://doi.org/10.1016/j.ekir.2023.10.022.
    (https://www.sciencedirect.com/science/article/pii/S2468024923015620)

  • Cobey Heinen, Hela Azaiez, Kevin Booth, Carla Nester, Richard Smith, Yuzhou Zhang,
    79 The functional consequence of two CFI ultra rare variants in complement-mediated diseases: Insights from in vitro splicing assay,
    Immunobiology, Volume 228, Issue 5, 2023,152530, ISSN 0171-2985, https://doi.org/10.1016/j.imbio.2023.152530.
    (https://www.sciencedirect.com/science/article/pii/S0171298523043322)

  • Amanda Heiderscheit, Angela Nelson, Carla Nester, Yuzhou Zhang, Richard Smith,
    15 Defining the impact of factor H, factor H-related 1, and factor H-related 5 on C3b deposition on mouse mesangial cells,
    Immunobiology, Volume 228, Issue 5, 2023, 152473, ISSN 0171-2985, https://doi.org/10.1016/j.imbio.2023.152473.
    (https://www.sciencedirect.com/science/article/pii/S0171298523042754)

2022

  • 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.

 

  • Michael M, Bagga A, Sartain SE, Smith RJH. Haemolytic uraemic syndrome. Lancet. 2022 Nov 12;400(10364):1722-1740. doi: 10.1016/S0140-6736(22)01202-8. Epub 2022 Oct 19. PMID: 36272423.
  • 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.
     
  • Bomback AS, Kavanagh D, Vivarelli M, Meier M, Wang Y, Webb NJA, Trapani AJ, Smith RJH. Alternative Complement Pathway Inhibition With Iptacopan for the Treatment of C3 Glomerulopathy-Study Design of the APPEAR-C3G Trial. Kidney Int Rep. 2022 Aug 2;7(10):2150-2159. doi: 10.1016/j.ekir.2022.07.004. PMID: 36217526.
     
  • Heiderscheit AK, Hauer JJ, Smith RJH. C3 glomerulopathy: Understanding an ultra-rare complement-mediated renal disease. Am J Med Genet C Semin Med Genet. 2022 Jun 23. doi: 10.1002/ajmg.c.31986. Epub ahead of print. PMID: 35734939.
     
  • Chauvet S, Hauer JJ, Petitprez F, Rabant M, Martins PV, Baudouin V, Delmas Y, Jourde-Chiche N, Cez A, Ribes D, Cloarec S, Servais A, Zaidan M, Daugas E, Delahousse M, Wynckel A, Ryckewaert A, Sellier-Leclerc AL, Boyer O, Thervet E, Karras A, Smith RJH, Frémeaux-Bacchi V. Results from a national-wide retrospective cohort measure the impact of C3 and soluble C5b-9 levels on kidney outcomes in C3 glomerulopathy. Kidney Int. 2022 Jun 22:S0085-2538(22)00464-1. doi: 10.1016/j.kint.2022.05.027. Epub ahead of print. PMID: 35752323.
     
  • Zhang Y, Goodfellow RX, Ghiringhelli Borsa N, Dunlop HC, Presti SA, Meyer NC, Shao D, Roberts SM, Jones MB, Pitcher GR, Taylor AO, Nester CM, Smith RJH. Complement Factor I Variants in Complement-Mediated Renal Diseases. Front Immunol. 2022 May 10;13:866330. doi: 10.3389/fimmu.2022.866330. PMID: 35619721.
     
  • 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.

 

  • 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
  • Michael M, Bagga A, Sartain SE, Smith RJH. Haemolytic uraemic syndrome. Lancet. 2022 Nov 12;400(10364):1722-1740. doi: 10.1016/S0140-6736(22)01202-8. Epub 2022 Oct 19. PMID: 36272423.
  • Bomback AS, Kavanagh D, Vivarelli M, Meier M, Wang Y, Webb NJA, Trapani AJ, Smith RJH. Alternative Complement Pathway Inhibition With Iptacopan for the Treatment of C3 Glomerulopathy-Study Design of the APPEAR-C3G Trial. Kidney Int Rep. 2022 Aug 2;7(10):2150-2159. doi: 10.1016/j.ekir.2022.07.004. PMID: 36217526.
  • Heiderscheit AK, Hauer JJ, Smith RJH. C3 glomerulopathy: Understanding an ultra-rare complement-mediated renal disease. Am J Med Genet C Semin Med Genet. 2022 Jun 23. doi: 10.1002/ajmg.c.31986. Epub ahead of print. PMID: 35734939.
  • Chauvet S, Hauer JJ, Petitprez F, Rabant M, Martins PV, Baudouin V, Delmas Y, Jourde-Chiche N, Cez A, Ribes D, Cloarec S, Servais A, Zaidan M, Daugas E, Delahousse M, Wynckel A, Ryckewaert A, Sellier-Leclerc AL, Boyer O, Thervet E, Karras A, Smith RJH, Frémeaux-Bacchi V. Results from a national-wide retrospective cohort measure the impact of C3 and soluble C5b-9 levels on kidney outcomes in C3 glomerulopathy. Kidney Int. 2022 Jun 22:S0085-2538(22)00464-1. doi: 10.1016/j.kint.2022.05.027. Epub ahead of print. PMID: 35752323.
  • Zhang Y, Goodfellow RX, Ghiringhelli Borsa N, Dunlop HC, Presti SA, Meyer NC, Shao D, Roberts SM, Jones MB, Pitcher GR, Taylor AO, Nester CM, Smith RJH. Complement Factor I Variants in Complement-Mediated Renal Diseases. Front Immunol. 2022 May 10;13:866330. doi: 10.3389/fimmu.2022.866330. PMID: 35619721
  • Rodriguez KM, Vaught J, Dilley M, Ellsworth K, Heinen A, Abud EM, Zhang Y, Smith RJH, Sheets R, Geng B, Hoffman HM, Worthen HM, Dimmock D, Coufal NG. Rapid genome sequencing identifies novel variants in complement factor I. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006239. doi: 10.1101/mcs.a006239. PMID: 36577522; PMCID: PMC9808552.

  • Chauvet S, Hauer JJ, Petitprez F, Rabant M, Martins PV, Baudouin V, Delmas Y, Jourde-Chiche N, Cez A, Ribes D, Cloarec S, Servais A, Zaidan M, Daugas E, Delahousse M, Wynckel A, Ryckewaert A, Sellier-Leclerc AL, Boyer O, Thervet E, Karras A, Smith RJH, Frémeaux-Bacchi V. Results from a nationwide retrospective cohort measure the impact of C3 and soluble C5b-9 levels on kidney outcomes in C3 glomerulopathy. Kidney Int. 2022 Oct;102(4):904-916. doi: 10.1016/j.kint.2022.05.027. Epub 2022 Jun 22. PMID: 35752323; PMCID: PMC10588728.

  • Zhang Y, Goodfellow RX, Ghiringhelli Borsa N, Dunlop HC, Presti SA, Meyer NC, Shao D, Roberts SM, Jones MB, Pitcher GR, Taylor AO, Nester CM, Smith RJH. Complement Factor I Variants in Complement-Mediated Renal Diseases. Front Immunol. 2022 May 10;13:866330. doi: 10.3389/fimmu.2022.866330. PMID: 35619721; PMCID: PMC9127439.

  • Bomback AS, Appel GB, Gipson DS, Hladunewich MA, Lafayette R, Nester CM, Parikh SV, Smith RJH, Trachtman H, Heeger PS, Ram S, Rovin BH, Ali S, Arceneaux N, Ashoor I, Bailey-Wickins L, Barratt J, Beck L, Cattran DC, Cravedi P, Erkan E, Fervenza F, Frazer-Abel AA, Fremeaux-Bacchi V, Fuller L, Gbadegesin R, Hogan JJ, Kiryluk K, le Quintrec-Donnette M, Licht C, Mahan JD, Pickering MC, Quigg R, Rheault M, Ronco P, Sarwal MM, Sethna C, Spino C, Stegall M, Vivarelli M, Feldman DL, Thurman JM. Improving Clinical Trials for Anticomplement Therapies in Complement-Mediated Glomerulopathies: Report of a Scientific Workshop Sponsored by the National Kidney Foundation. Am J Kidney Dis. 2022 Apr;79(4):570-581. doi: 10.1053/j.ajkd.2021.07.025. Epub 2021 Sep 24. PMID: 34571062.

2021

  • 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.

 

  • 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.
     
  • Loeven MA, Maciej-Hulme ML, Yanginlar C, Hubers MC, Kellenbach E, de Graaf M, van Kuppevelt TH, Wetzels J, Rabelink TJ, Smith RJH, van der Vlag J. Selective Binding of Heparin/Heparan Sulfate Oligosaccharides to Factor H and Factor H-Related Proteins: Therapeutic Potential for C3 Glomerulopathies. Front Immunol. 2021 Aug 18;12:676662. doi: 10.3389/fimmu.2021.676662. PMID: 34489931.
     
  • Martin Merinero H, Zhang Y, Arjona E, Del Angel G, Goodfellow R, Gomez-Rubio E, Ji RR, Michelena M, Smith RJH, Rodríguez de Córdoba S. Functional characterization of 105 Factor H variants associated with atypical HUS: lessons for variant classification. Blood. 2021 Jun 29:blood.2021012037. doi: 10.1182/blood.2021012037. Epub ahead of print. PMID: 34189567.
     
  • Johnson CK, Zuniga SC, Dhawale T, Zhang Y, Smith RJH, Blosser CD. Monoclonal Gammopathy of Renal Significance Causes C3 Glomerulonephritis Via Monoclonal IgG Kappa Inhibition of Complement Factor H. Kidney Int Rep. 2021 Jun 27;6(9):2505-2509. doi: 10.1016/j.ekir.2021.06.015. PMID: 34514215.
     
  • 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.
  • Piras R, Breno M, Valoti E, Alberti M, Iatropoulos P, Mele C, Bresin E, Donadelli R, Cuccarolo P, Smith RJH, Benigni A, Remuzzi G, Noris M. CFH and CFHR Copy Number Variations in C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis. Front Genet. 2021 Jun 11;12:670727. doi: 10.3389/fgene.2021.670727. PMID: 34211499; PMCID: PMC8240960.
  • Mansilla MA, Sompallae RR, Nishimura CJ, Kwitek AE, Kimble MJ, Freese ME, Campbell CA, Smith RJ, Thomas CP. Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases. Nephrol Dial Transplant. 2021 Jan 25;36(2):295-305. doi: 10.1093/ndt/gfz173. PMID: 31738409; PMCID: PMC7834596.
  • Nester, C., Breheny, P., Hall, M., Charney, A., Lefkowitz, M., Trapani, A., ... & Smith, R. (2021). MO136 RELATIONSHIP BETWEEN UPCR AND EGFR IN C3 GLOMERULOPATHY. Nephrology Dialysis Transplantation, 36(Supplement_1), gfab092-0014.

2020

  • Zhang Y, Ghiringhelli Borsa N, Shao D, Dopler A, Jones MB, Meyer NC, Pitcher GR, Taylor AO, Nester CM, Schmidt CQ, Smith RJH. Factor H Autoantibodies and Complement-Mediated Diseases. Front Immunol. 2020 Dec 15;11:607211. doi: 10.3389/fimmu.2020.607211. PMID: 33384694.
  • Thorpe RK, Smith RJH. Future directions for screening and treatment in congenital hearing loss. Precis Clin Med. 2020 Sep;3(3):175-186. doi: 10.1093/pcmedi/pbaa025. Epub 2020 Jul 16. PMID: 33209510.
     
  • Booth KT, Ghaffar A, Rashid M, et al. Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss [published online ahead of print, 2020 Jun 19]. Hum Genet. 2020;10.1007/s00439-020-02197-5. doi:10.1007/s00439-020-02197-5. PMID: 32562050.
     
  • Zhang Y, Kremsdorf R, Sperati CJ, et al. Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndrome [published online ahead of print, 2020 Jun 12]. Kidney Int. 2020;S0085-2538(20)30637-2. doi:10.1016/j.kint.2020.05.028. PMID: 32540405.
     
  • 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.
     
  • 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.
  • Zhang Y, Keenan A, Dai DF, May KS, Anderson EE, Lindorfer MA, Henrich JB, Pitcher GR, Taylor RP, Smith RJ. C3(H2O) prevents rescue of complement-mediated C3 glomerulopathy in Cfh-/- Cfd-/- mice. JCI Insight. 2020 May 7;5(9):e135758. doi: 10.1172/jci.insight.135758. PMID: 32376801.
  • 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.
  • 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.

2019

  • 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] 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] 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; PMID: 31171844.
     
  • Schubart A, Anderson K, Mainolfi N, Sellner H, Ehara T, Adams CM, Mac Sweeney A, Liao SM, Crowley M, Littlewood-Evans A, Sarret S, Wieczorek G, Perrot L, Dubost V, Flandre T, Zhang Y, Smith RJH, Risitano AM, Karki RG, Zhang C, Valeur E, Sirockin F, Gerhartz B, Erbel P, Hughes N, Smith TM, Cumin F, Argikar UA, Haraldsson B, Mogi M, Sedrani R, Wiesmann C, Jaffee B, Maibaum J, Flohr S, Harrison R, Eder J. Small-molecule factor B inhibitor for the treatment of complement-mediated diseases. Proc Natl Acad Sci U S A. 2019 Apr 16;116(16):7926-7931. doi: 10.1073/pnas.1820892116. Epub 2019 Mar 29. PMID: 30926668.
     
  • Hauer JJ, Shao D, Zhang Y, Nester CM, Smith RJH. Factor B and C4b2a Autoantibodies in C3 Glomerulopathy. Front Immunol. 2019 Apr 4;10:668. doi:10.3389/fimmu.2019.00668. eCollection 2019. Review. PMID: 31024533.
     
  • Smith RJH, Appel GB, Blom AM, Cook HT, D'Agati VD, Fakhouri F, Fremeaux-Bacchi V, Józsi M, Kavanagh D, Lambris JD, Noris M, Pickering MC, Remuzzi G, de Córdoba  SR, Sethi S, Van der Vlag J, Zipfel PF, Nester CM. C3 glomerulopathy - understanding a rare complement-driven renal disease. Nat Rev Nephrol. 2019 Mar;15(3):129-143. doi: 10.1038/s41581-018-0107-2. Review. PMID: 30692664.
     
  • 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. PMID: 30865901.
     
  • 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. PMID: 30686588.
  • Shin HS, Nester CM, Dixon BP. Comorbidity of inflammatory bowel disease with atypical hemolytic uremic syndrome in pediatric patients. Clin Nephrol Case Stud. 2019 Jun 25;7:35-40. doi: 10.5414/CNCS109511. PMID: 31312592; PMCID: PMC6595396.
  • Andrea L. Oliverio, Jarcy Zee, Laura H. Mariani, Monica L. Reynolds, Michelle O’Shaughnessy, Elizabeth M. Hendren, Nada Alachkar, Emily Herreshoff, Dana V. Rizk, Carla M. Nester, Julia Steinke, Katherine E. Twombley, Michelle A. Hladunewich,
    Renal Complications in Pregnancy Preceding Glomerulonephropathy Diagnosis,
    Kidney International Reports, Volume 4, Issue 1, 2019, Pages 159-162, ISSN 2468-0249, https://doi.org/10.1016/j.ekir.2018.10.012.
    (https://www.sciencedirect.com/science/article/pii/S2468024918302833)