1.  Loeven MA, Rops AL, Lehtinen MJ, van Kuppevelt TH, Daha MR, Smith RJ, Bakker M, Berden JH, Rabelink TJ, Jokiranta TS, van der Vlag J. Mutations in complement factor H impair alternative pathway regulation on mouse glomerular endothelial cells in vitro. J Biol Chem. 2016 Jan 4. [Epub ahead of print] PubMed PMID: 26728463.
  2.  Tran CL, Sethi S, Murray D, Cramer CH, Sas DJ, Willrich M, Smith RJ, Fervenza  FC.  Discontinuation of dialysis with eculizumab therapy in a pediatric patient with dense deposit disease.  Pediatr Nephrol. 2016 Apr;31(4):683-7.  Epub 2016 Jan 13. PubMed PMID: 26759144
  3.  Angioi A, Fervenza FC, Sethi S, Zhang Y, Smith RJ, Murray D, Van Praet J, Pani A, De Vriese AS.  Diagnosis of complement alternative pathway disorders. Kidney Int. 89(2):278-88, 2016. PubMed PMID: 26806831.
  4.  Sethi S, Quint PS, O'Seaghdha CM, Fervenza FC, Bijol V, Dorman A, Dasari S, Smith RJ, Kurtin PJ, Rennke HG. C4 Glomerulopathy: a disease entity associated with C4d deposition. Am J Kidney Dis. 2016 Feb 17. pii: S0272-6386(16)00081-0. doi: 10.1053/j.ajkd.2016.01.012. [Epub ahead of print] PubMed PMID: 26896898.
  5.  Sethi S, Fervenza FC, Smith RJH, Haas M. Overlap of ultrastructural findings in C3 glomerulonephritis and dense deposit disease.  Kidney Inter 88:1449-1450, 2015.
  6.  Sethi S, Haas M, Markowitz GS, D'Agati VD, Rennke HG, Jennette JC, Bajema IM, Alpers CE, Chang A, Cornell LD, Cosio FG, Fogo AB, Glassock RJ, Hariharan S, Kambham N, Lager DJ, Leung N, Mengel M, Nath KA, Roberts IS, Rovin BH, Seshan SV, Smith RJ, Walker PD, Winearls CG, Appel GB, Alexander MP, Cattran DC, Casado CA, Cook HT, De Vriese AS, Radhakrishnan J, Racusen LC, Ronco P, Fervenza FC. Mayo Clinic/Renal Pathology Society Consensus Report on Pathologic Classification, Diagnosis, and Reporting of GN. J Am Soc Nephrol 2015 Nov 13 [Epub ahead of print] PubMed PMID: 26567243.
  7.  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].
  8.  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.   
  9.  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.
  10.  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.
  11.  Bu F, Borsa NG, Jones MB, Takanami E, Nishimura C, Hauer JJ, Azaiez H, Black-Ziegelbein EA, Meyer NC, Kolbe DL, Li Y, Frees K, Schnieders MJ, Thomas C, Nester CM, Smith RJ. High-throughput genetic testing for the thrombotic microangiopathies and C3 glomerulopathies. J Am Soc Nephrol 2015 Aug 17 [Epub ahead of print].
  12.  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].
  13.  Alexander MP, Fervenza FC, De Vriese AS, Smith RJ, Nasr SH, Cornell LD,Herrera Hernandez LP, Zhang Y, Sethi S. C3 glomerulonephritis and autoimmune disease: more than a fortuitous association? J Nephrol 2015 Jul 18 [Epub ahead  of print] PubMed PMID: 26187133.
  14.  Hildebrand MS, Tankard R, Gazina EV, Damiano JA, Lawrence KM, Dahl HM, Regan BM, Shearer AE, Smith RJH, Marini C, Guerrini R, Labate A, Gambardella A, Tinuper P, Lichetta L, Baldassari S, Bisulli F, Pippucci T, Scheffer IE, Reid CA, Petrou S, Bahlo M, Berkovic SF. PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.  Ann Clin Transl Neurol 2015 Jul 3 [Epub ahead  of print]; 2:821-30, 2015.
  15.  Damiano JA, Afawi Z, Bahlo M, Mauermann M, Misk A, Arsov T, Oliver KL, Dahl HH, Shearer AE, Smith RJ, Hall NE, Mahmood K, Leventer RJ, Scheffer IE, Muona M, Lehesjoki AE, Korczyn AD, Hermann H, Berkovic SF, Hildebrand MS. Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. Hum Mol Genet 2015 May 7 [Epub ahead of print]; 24(16):4483-90, 2015.
  16. 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. 
  17.  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).
  18. Zhang Y, Shao D, Ricklin D, Hilkin BM, Nester CM, Lambris JD, Smith RJH. Compstatin analog Cp40 inhibits complement dysregulation in vitro in C3 glomerulopathy. Immunobiol 2015 May 5 [Epub ahead of print]; 220(8):993-8, 2015. 
  19.  Nester CM, Barbour T, Rodriquez de Cordoba S, Dragon-Durey MA, Fremeaux-Bacchi V, Goodship THJ, Kavanagh D, Noris M, Pickering M, Sanchez-Corral P, Skerka C, Zipfel P, Smith RJH. Atypical aHUS: state of the art. Mole Immunol 2015 Apr 3 [Epub ahead of print]; 67(1):31-42, 2015.
  20. 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). 
  21.  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.
  22.  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.
  23. 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. 
  24. 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. 
  25. 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.
  26.  Bu F, Meyer NC, Zhang Y, Borsa NG, Thomas C, Nester CM, Smith RJH. Soluble C5b-9 as a biomarker for complement activation in atypical HUS. Am J Kid Dis 2015 Mar 25. pii: S0272-6386(15)00498-9 [Epub ahead of print]; 65(6):968-9, 2015.
  27.  Kuppachi S, Smith RJH, Thomas CP.  Evaluation of genetic renal diseases in potential living kidney donors.  Current transplantation reports 2015 Jan 15 [Epub ahead of print].
  28.  Schramm E, Roumenina LT, Rybkine T, Chauvet S, Vieira-Martins P, Hue C,  Maga T, Valoti E, Wilson V, Jokiranta S, Smith RJH, Noris M, Goodship T, Atkinson JP, Fremeaux-Bacchi V. Functional mapping of the interactions between complement C3 and regulatory proteins using atypical HUS-associated mutations. Blood 2015 Jan 7 [Epub ahead of print]; 9;125(15):2359-69, 2015.
  29.  Sethi S, Smith RJ, Dillon JJ, Fervenza FC.  C3 glomerulonephritis associated with complement factor B mutation.  Am J Kid Dis 2014 Dec 18 [Epub ahead of print]; 65(3):520-1, 2015.
  30.  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].
  31.  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.
  32.  Zhang Y, Nester CM, Martin B, Skjoedt MO, Meyer NC, Shao D, Borsa N, Palarasah Y, Smith RJ. Defining the complement biomarker profile of C3 glomerulopathy. Clin J Am Soc Nephrol 2014 Oct 23 [Epub ahead of print]; 9 (11):1876-82, 2014.
  33.  Nester CM, Smith RJH. Factors influencing treatment of atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol 2014 Aug 18 [Epub ahead of print]; 9(9):1516-8, 2014.
  34.  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.
  35.  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.
  36.  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.
  37.  Xiao X, Pickering MC, Smith RJH. C3 Glomerulopathy: The genetic and clinical findings in Dense Deposit Disease and C3 Glomerulonephritis. Semin Thromb Hemost 2014 May 5 [Epub ahead of print]; 40(4):465-71, 2014.
  38. Lin SS, Tzeng BH, Lee KR, Smith RJ, Campbell KP, Chen CC. Cav3.2 T-type calcium channel is required for the NFAT-dependent Sox9 expression in tracheal cartilage. Proc Natl Acad Sci U S A 2014 Apr 28 [Epub ahead of print]; 13: 111(19), 2014.
  39.  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).
  40.  Sethi S, Sullivan A, Smith RJ. C4 Dense-Deposit Disease. N Engl J Med 370:785-6, 2014.
  41.  Marinozzi MC, Vergoz L, Rybkine T, Ngo S, Bettoni S, Pashov A, Cayla M, Tabarin F, Jablonski M, Hue C, Smith RJ, Noris M, Halbwachs-Mecarelli L, Donadelli R, Fremeaux-Bacchi V, Roumenina LT. Complement factor B mutations in atypical hemolytic uremic syndrome--disease-relevant or benign? J Am Soc Nephrol 2014 Mar 20 [Epub ahead of print]; 25(9): 2053-65, 2014.
  42.  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.
  43. Prasto J, Kaplan BS, Russo P, Chan E, Smith RJH, Meyers KEC. Streptococcal infection as possible trigger for Dense Deposit Disease (C3 glomerulopathy). Eur J Pediatr 2014 Jan 3 [Epub ahead of print]; 173(6):767-72, 2014. 
  44. Ramadass M, Ghebrehiwet B, Smith RJ, Kew RR.  Generation of multiple fluid-phase C3b:plasma protein complexes during complement activation: possible implications in C3 glomerulopathies J Immunol. 2013 Dec 23 [Epub ahead of print]; 192(3):1220-30, 2014. 
  45. Zand L, Lorenz EC, Cosio FG, Fervenza FC, Nasr SH, Gandhi MJ, Smith RJH, Sethi S. Clinical findings, pathology and outcomes of C3 glomerulonephritis following kidney transplantation. J Am Soc Nephrol 2013 Dec 19 [Epub ahead of print]; 25(5): 1110-7, 2014. 
  46. Chaudhary P, Hepgur M, Sarkissian S, Smith RJ, Weitz IC. Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H. Blood Transfus 2013 Nov 15 [Epub ahead of print]; 12(1):111-3, 2014. 
  47. Bhama AR, Smith RJ, Robinson RA, Weigel RJ, Sugg SL, Howe JR, Lal G. Preoperative evaluation of thyroglossal duct cysts: children versus adults - is there a difference? Am J Surg 2013 Oct 26 [Epub ahead of print]; 207(6):902-6, 2014.
  48.  Bu F, Maga T, Meyer NC, Wang K, Thomas CP, Nester CM, Smith RJH.  Comprehensive genetic analysis of complement-coagulation genes in atypical hemolytic uremic syndrome. J Am Soc Nephrol 2013 Sep 12 [Epub ahead of print]; 25: 55-64, 2014.
  49. Pickering MC, D’Agati VD, Nester CM, Smith RJ, Haas M, Appel GB, Alpers CE, Bajema IM, Bedrosian C, Braun M, Doyle M, Fakhouri F, Fervenza FC, Fogo AB, Frémeaux-Bacchi V, Gale DP, Goicoechea de Jorge E, Griffin G, Harris CL, Holers VM, Johnson S,Lavin PJ, Medjeral-Thomas N, Morgan BP, Nast CC, Noel L-H, Peters DK, Rodríguez de Córdoba S, Servais A, Sethi S, Song W-C, Tamburini P, Thurman JM, Zavros M, Cook TH. C3 glomerulopathy: consensus report. Kidney Inter 2013 Oct 30 [Epub ahead of print]; 84:1079-89, 2013. 
  50.  Nester CM, Smith RJ.  Diagnosis and treatment of C3 glomerulopathy.  Clin Nephrol 2013 Sep 2 [Epub ahead of print]; 80:395-403, 2013.
  51.  Zhang Y, Nester CM, Holanda DG, Marsh HC, Hammond RA, Thomas LJ, Meyer NC, Hunsicker LG, Sethi S, Smith RJH. Soluble CR1 therapy improves complement regulation in C3 glomerulopathy.  J Am Soc Nephrol 2013 Aug 1 [Epub ahead of print]; 24:1820-1829, 2013.
  52.  Eyler SJ, Meyer NC, Zhang Y, Xiao X, Nester CM, Smith RJH. A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome. Pediatr Nephrol 2013 Jul 24 [Epub ahead of print]; 28:2221-5, 2013.
  53. 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.
  54. Feng S, Eyler SJ, Zhang Y, Nester CM, Maga T, Kroll MH, Smith RJ, Afshar-Kharghan V. Partial ADAMTS13 deficiency in atypical HUS. Blood 2013 Jul 11 [Epub ahead of print]; 122(8):1487-93, 2013.
  55.  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.
  56. Gurkan S, Fyfe B, Weiss L, Xiao X, Zhang Y, Smith RJ. Eculizumab and recurrent C3 glomerulonephritis. Pediatr Nephrol 2013 May 22 [Epub ahead of print]; 28(10):1975-81, 2013. 
  57. Chapin J, Eyler SJ, Smith RJ, Tsai H-M, Laurence J. Complement factor H mutations are present in ADAMTS13 deficient ticlopidine-associated TTP. Blood 2013 May 9 [Epub ahead of print]; 121(19):4012-3, 2013. 
  58. Zand L, Kettah A, Fervenza FC, Smith RJH, Nasr S, Zhang Y, Vrana JA, Leung N, Cornell LD, Sethi S. C3 glomerulonephritis associated with monoclonal gammopathy.  Am J Kid Dis 2013 Apr 25 [Epub ahead of print]; 62(3):506-14, 2013. 
  59. Hawfield A, Iskandar SS, Smith RJ. Alternative pathway dysfunction in kidney disease: a case report and review of dense deposit disease and C3 glomerulopathy.  Am J Kid Dis 2013 Feb 4 [Epub ahead of print]; 61(5):828-31, 2013. 
  60. Nester CM, Smith RJ.  Treatment options for C3 glomerulopathy.  Curr Opin Nephrol Hypertens 22(2): 231-7, 2013. 
  61. Hildebrand MS, Dahl HHM, Damiano J, Smith RJ, Scheffer IE, Berkovic SF. Recent advances in the molecular genetics of epilepsy. J Med Genet 2013 Mar 6 [Epub ahead of print]; 50:271-279, 2013. 
  62. 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. 
  63. Reznikov LR, Dong Q, Chen J-H, Moninger TO, Park JM, Zhang Y, Du J, Hildebrand MS, Smith RJH, Randak CO, Stoltz DA, Welsh MJ. CFTR-deficient pigs display peripheral nervous system defects at birth. PNAS 2012 Dec 27 [Epub ahead of print]; 110(8):3083-8, 2013. 
  64. Taylor  KR, 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. 
  65. Sethi S, Fervenza FC, Zhang Y, Zand L, Meyer NC, Borsa N, Nasr SH, Smith RJH. Atypical post-infectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement.  Kidney Inter 2012 Dec 12 [Epub ahead of print]; 83:293-9, 2013. 
  66. 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. 
  67. Bu F, Borsa N, Gianluigi A, Smith RJH. Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects. Clin Devel Immunol 2012 Nov 9 [Epub ID 370426 doi:10.1155/2012/370426] 2012. 
  68. Hackett AM, Baranano CF, Reed M, Duvvuri U, Smith RJ, Mehta D. Sialoendo-scopy for the treatment of pediatric salivary gland disorders.  Arch Otolaryngol Head Neck Surg 138(10):912-5, 2012. 
  69. 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. 
  70. 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. 
  71. 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. 
  72. Xie L, Nester CM, Reed AI, Zhang Y, Smith RJ, Thomas CP. Tailored eculizumab therapy in the management of complement factor H-mediated atypical hemolytic uremic syndrome in an adult kidney transplant recipient. A Case report.  Transplant Proc 44(10):3037-40, 2012. 
  73. 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.
  74. 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.
  75.  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.
  76. Sethi S, Fervenza FC, Zhang Y, Smith RJH.  Secondary focal and segmental glomerulosclerosis associated with single-nucleotide polymorphisms in the genes encoding complement factor H and C3. Am J Kid Dis 2012 May 16 [Epub ahead of print]; 60(2):316-21, 2012. 
  77.  *Sethi S, Fervenza FC, Zhang Y, Zand L, Vrana JA, Nasr SH, Theis JD, Dogan A, Smith RJH. C3 Glomerulonephritis: clinicopathologic findings, complement abnormalities, glomerular proteomic profile, treatment and follow-up. Kidney Inter 2012 Jun 6 [Epub ahead of print]; 82:465-73, 2012. *Cover issue
  78.  Crovetto F, Borsa N, Acaia B, Nishimura C, Frees K, Smith RJH, Peyvandi F, Palla R, Cugno M, Tedeschi S, Castorina P, Somigliana E, Ardissino G, Fedele L.  The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome. J Matern Fetal Neonatal Med 2012 May 18 [Epub ahead of print]; 25(11):2322-5, 2012.
  79. 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. 
  80. *Fervenza FC, Smith RJH, Sethi S. Association of a novel complement factor H mutation with severe crescentic and necrotizing glomerulonephritis.  Am J Kid Dis 2012 Apr 29 [Epub ahead of print]; 60:126-32, 2012. *Cover issue 
  81. 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. 
  82.  Bomback AS, Smith RJH, Barile GR, Zhang Y, Heher EC, Herlitz L, Stokes MB, Markowitz GS, D'Agati VD, Canetta PA, Radhakrishnan J, Appel GB. Eculizumab for Dense Deposit Disease and C3 Glomerulonephritis. Clin J Am Soc Nephrol 2012 Mar 8 [Epub ahead of print]; 7(5):748-56, 2012.
  83.  Zhang Y, Meyer NC, Wang K, Nishimura C, Frees K, Jones M, Katz LM, Sethi S, Smith RJH. Causes of alternative pathway dysregulation in Dense Deposit Disease. Clin J Am Soc Nephrol 2012 Jan 5 [Epub ahead of print]; 7:265-74, 2012.
  84. 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. 
  85. 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. 
  86. 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. 
  87.  Lu DF, Moon M, Lanning LD, McCarthy AM, Smith RJH. Clinical features and outcomes of 98 children and adults with Dense Deposit Disease. Pediatr Nephrol 2011 Nov 22 [Epub ahead of print]; 27(5):773-81, 2012.
  88. Sethi S, Nester CM, Smith RJH. Membranoproliferative glomerulonephritis and C3 glomerulopathy:  resolving the confusion. Kidney Inter 2011 Dec 7 [Epub ahead of print]; 81(5):434-41, 2012. 
  89.  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.
  90.  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.
  91.  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.
  92.  Nester CM, Stewart Z, Myers D, Jetton J, Nair R, Reed A, Thomas C, Smith RJ, Brophy P. Pre-emptive eculizumab and plasmapheresis for renal transplant in atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol 2011 May 27 [Epub ahead of print]; 6(6):1488-94, 2011.
  93. Gazquez I, Lopez-Escamez JA, Moreno A, Campbell CA, Meyer NC, Carey JP, Minor LB, Gantz BJ, Hansen MR, Santina CC, Aran I, Soto-Varela A, Santos S, Batuecas A, Perez-Garrigues H, Lopez-Nevot A, Smith RJ, Lopez-Nevot MA. Functional variants in NOS1 and NOS2A are not associated with progressive hearing loss in Ménière's disease in a European Caucasian population. DNA Cell Biol. 2011 May 25. [Epub ahead of print]; 30(9):699-708, 2011. 
  94. Smith RJH, Harris CL, Pickering MC. Dense deposit disease.  Mole Immunol 2011 May 21 [Epub ahead of print]; 48(14):1604-10, 2011. 
  95. 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. 
  96. 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. 
  97.  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.
  98.  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.
  99. Provenzano MJ, Hulstein SL, Solomon DH, Bauman NM, Manaligod JM, Kacmarynski DS, Smith RJ. Pediatric endoscopic airway management with posterior cricoid rib grafting. Laryngoscope 121(5):1062-6, 2011. 
  100.  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.
  101.  Sethi S, Fervenza F, Zhang Y, Nasr S, Leung N, Vrana J, Cramer C, Nester CM, Smith RJH.  Proliferative glomerulonephritis secondary to dysfunction of the alternative pathway. Clin J Am Soc Nephrol 2011 Mar 17 [Epub ahead of print]; 6:1009-17, 2011.
  102.  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.
  103.  Ealy M, Smith RJ. Otosclerosis. Adv Otorhinolaryngol. 2011 Feb 24 [Epub ahead of print]; 70:122-9, 2011.
  104.  Abrera-Abeleda MA, Nishimura C, Frees K, Jones M, Maga T, Katz LM, Zhang Y, Smith RJH. Allele variants of complement genes associated with Dense Deposit Disease. J Am Soc Nephrol 2011 July 22 [Epub ahead of print]; 22:1581-1589, 2011.
  105. 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. 
  106. 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. 
  107. 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. 
  108. 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. 
  109.  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.
  110. Maga T, Meyer NC, Belsha C, Nishimura CJ, Zhang Y, Smith RJH.   A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome. Nephrol Dial Transplant 2010 Oct 25 [Epub ahead of print]; 26:739-41, 2011. 
  111.  Renton JP, Smith RJH.  Current treatment paradigms in the management of lymphatic malformations. Laryngoscope 2010 Nov 2 [Epub ahead of print]; 121:56-9, 2011.

  112.