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澳麦尔基因技术有限公司

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          亲爱的同行朋友们，欢迎亲临2009年耳聋与基因医学国际研讨会！
对于我们所有人来说，这是与世界耳聋遗传学界同行交流与分享最新研究发现的好机会。毋庸置疑，在研讨会上知识的碰撞与交流必将促进耳聋基因医学的进一步发展。

 

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报到时间：2009年8月28日（星期五）全天报到

报到地点：北京美泉宫饭店大厅（北京西四环的四季青桥南侧）

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会议时间：2009年8月29日-30日

会议地点：北京解放军总医院外科大楼17层会议中心
 
会议语言：英语（同声传译）

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联系地址：北京市复兴路28号解放军总医院耳鼻喉研究所(100853) 
 

 

访问统计

今日访问量: 5
总访问量: 5065
最大月访问量: 1515
最大月访问量发生时间: 2009-8
统计起始时间: 2009-07-25
Richard J.H. Smith 教授

         Richard Smith教授是美国爱荷华大学耳鼻咽喉科副主任、Sterba听力学研究教授，同时，他也是分子耳鼻咽喉科学研究室（MORL）主任，耳鼻咽喉科、儿科和肾脏内科学教授。他主要临床工作为耳聋和听障儿童诊治。每周两天看门诊病例及手术，其余时间在他一手建立并指导的分子耳鼻咽喉研究室工作。
        MORL最主要的研究目标是改善耳聋人群的医疗服务。为达到这一目的，MORL设立了临床诊断部和基础研究两个分支。前者在1999年得到CLIA的认证并在2001年得到JCAHO的质量认定，是美国最早的可提供耳聋突变筛查的诊断实验室。这一临床服务影响深远，使基因检测成为耳聋诊断过程中最经济的检测方法，有效地改变了耳聋患者的医学检查模式。
        在基础研究方面，研究生和博士后研究人员在工作中得到了大量的科学发现，有助于我们深入地理解听觉和耳聋，其中包括使用RNAi干扰技术修复耳聋小鼠模型的听力损失，通过与比利时同行的合作，MORL主持并维护着遗传性耳聋网站（the Hereditary Hearing Loss Homepage），这是进行人类耳聋研究的科学家所参考和使用的重要网络资源。
        鉴于他在耳聋领域的研究成就，Smith博士2006年被选为美国国家科学院成员，并在2009年当选为美国内科医师协会成员。
 

       CURRICULUM VITAE

Name：  Richard J.H. Smith
Address:     
Department of Otolaryngology
University of Iowa Hospitals and Clinics
200 Hawkins Dr, 21151-A
Iowa City, IA, 52242-1078
Place of Birth: United States                       
Citizenship:       United States

Education
1974         BA Rice University (Biochemistry)
1977         MD Baylor College of Medicine
1977-1978    Internship University of Texas Health Science Center Houston, Texas
1978-1979    General Surgery University of Texas Health Science Center Residency Houston, Texas
1979-1982     Otolaryngology Baylor College of Medicine Residency Houston, Texas
1982-1983     Fellowship The Hospital for Sick Children Pediatric tolaryngology, London, England
1990-1991    Post-Doctoral Training Medical Research Council Institute of Hearing Research Nottingham, England
Academic Appointments
1983-1988     Assistant Professor Department of Otolaryngology Baylor College of Medicine
1988-1990     Associate Professor Department of Otolaryngology Baylor College of Medicine
1990- present   Professor Department of OtolaryngologyUniversity of Iowa Carver College of Medicine
1996- present  Professor Interdisciplinary Genetics PhD Program University of Iowa Graduate School
1999- present   Sterba Hearing University of Iowa Carver College of Medicine Research Professor
2005- present Professor Department of Internal Medicine, Division of Nephrology, University of Iowa Carver College of Medicine
2005- present    Professor Department of Pediatrics, University of Iowa Carver College of Medicine
 
Administrative Responsibilities and Hospital Affiliations
1990-   Director, Division of Pediatric Otolaryngology, University of Iowa
1990-   Director, Molecular Otolaryngology Research Laboratories
1995-   Vice Chairman, Department of Otolaryngology - Head and Neck Surgery,University of Iowa
2002-   Surgical Director, Children’s Hospital of Iowa
1991-   Professor, Department of Otolaryngology-Head and Neck Surgery, The University of Iowa Hospitals and Clinics
 
Honors and Awards
2004   The Best Doctors in America, 2004. South Carolina: Woodward/White Inc.
2005   Jack L Gluckman Distinguished Lectureship Award
2005    Charles J Kause Distinguished Lectureship Award
2005   Barry J. Anson Outstanding Teacher Award
2006   Los Angeles Otolaryngology Study Group, Guest of Honor
2006    Heart and Hands Award
2006   Daniels Foundation Keynote Speaker, Children’s Hospital of Denver
2006   Alberta Heritage Foundation Visiting Professor and Honored Guest in the R.Brian Lowry Department of Medical Genetics, University of Calgary
2006   Steve Gray Memorial Lecturer, University of Utah
2006    The Best Doctors in America, 2006. South Carolina: Woodward/White Inc.
2006   The Institute of Medicine of the National Academies
2007   Honored Guest, The Oto-Rhino-Laryngological Society of Japan, 108th Annual Meeting, Kanazawa, Japan
2007 The Harkins Memorial Lecture, The Department of Otolaryngology, St LouisUniversity
2007   Guest of Honor, Middle East Update in Otolaryngology – Head and Neck Surgery, Dubai, UAE
 
Patents
1.   US Provisional Patent Application No. 60/735,697
For: Factor H and Hactor H-Related 5 Diagnostics and Therapeutics for
Membranoproliferative Glomerulonephritis Type II
2.   US Provisional Patent Application No. 11/354,559
For: Methods and Reagents for Treatment and Diagnosis of Age-Related
Macular Degeneration
3.   US Provisional Patent Application No. 60/789,460
For: Compositions for Treating Hearing Loss and Methods of use Thereof
 
Editor /Associate Editor /Past Editor/Associate Editor Responsibilities
2004       Editor, Annals of Otology, Laryngology, & Rhinology
2003       Associate Editor, Gene Tests, Gene Clinics
1984-1995  Abstract Editor (Pediatric Otolaryngology), Head and Neck
1990-2001  Editor, Controversies, Head and Neck
2001-2003  Associate Editor, Annals of Otology, Laryngology, & Rhinology
 
Papers Published (Recent Five Year in 323)
1.         Prasad S, Kölln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJH. (2004) Pendred syndrome and DFNB4 - Mutation screening of SLC26A4 by denaturing highperformance liquid chromatography and the identification of seven novel mutations. Am J Med Genet 124A:1-9.(PMID:)
2.         Mhatre AN, Li J, Chen AF, Yost CS, Smith RJH, Kindler CH, Lalwani AK. (2004) Genomic Structure, Cochlear Expression and Mutation Screening of TWIK-2, a Candidate Gene for DFNA4. J Neuroscience Res 75:25-31.(PMID:)
3.         Snoeckx RL, Ensink RJH, Kremer H, Flothmann K, Smith RJH, Cremers CWRJ,Van Camp G. (2004) A novel locus for autosomal dominant nonsyndromic hearing loss,DFNA31, maps to chromosome 6p21.3. J Med Genet 41:11-13.(PMID:)
4.         Cryns K, Orzan E, Murgia A, Huygen PLM, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJH, Van Camp G. (2004) A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet 41:147-54.
5.         Hildebrand MS, de Silva MG, Klockars T, Rose E, Price M, Smith RJH, McGuirt WJ, Christopoulos H, Petit C, Dahl HM. (2004) Characterization of DRASIC in the mouse inner ear. Hearing Res 190:149-160.
6.         Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, Smith RJ. (2004) Branchio-Oto-Renal Syndrome-The Mutation Spectrum in EYA1 and Its Phenotypic Consequences. Hum Mut 23:582-589.
7.         Cable BB, Manaligod JM, Bauman NM, Smith RJH. (2004) Pediatric airway reconstruction - principles, decision-making and outcomes at the University of Iowa Hospitals and Clinics. Ann Otol Rhinol Laryngol 113:283-288.
8.         Van Den Bogaert K, De Leenheer E, Cremers CRWJ, Lee Y, Nürnberg P,Pennings R, Vanderstraeten K, Chen W, Smith RJH, Van Camp G. (2004) A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24. J Med Genet 41:450-453.
9.         Van Laer L, Vrijens K, Thys S, Van Tendeloo VFI, Smith RJH, Van Bockstaele DR, Timmermans J-P, Van Camp G. (2004) DFNA5: hearing impairment exon instead of hearing impairment gene? J Med Genet 41:401-406.
10.     Pusch CM, Meyer B, Kupka S, Smith RJH, Lalwani AK, Zenner HP, Blin N,Nurnberg P, Pfister M. (2004) Refinement of the DFNA4 locus to a 1.44 Mb region in19q13.33. J Mol Med 82:398-402.
11.     Michaud A-P, Bauman NM, Burke DK, Manaligod JM, Smith RJH. Spastic diplegia and other motor disturbances in infants receiving interferon-alpha. (2004) Laryngoscope 114:1231-1236.
12.     Smith RJH. (2004) The Clinical Application of Genetic Testing for Deafness. Am J Med Genet 130A:8-12.
13.     Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del Castillo I, Van Camp G, Smith RJ. (2004) GJB2 – The Spectrum of Deafness-Causing Allele Variants and Their Phenotype. Hum Mut 24:305-11.
14.     Ruf RG, Xu P-X, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S,Neuhaus TJ, Kemper MJ, Raymond Jr. RM, Brophy PD, Berkman J, Gattas M,Hyland V, Ruf E-M, Schwartz C, Chang EH, Smith RJH, Stratakis CA, Weil D,Petit C, Hildebrandt F. (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes. PNAS 101:8090-8095.
15.     Zhang Y, Knosp BM, Maconochie M, Friedman RA, Smith RJH. (2004) A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. JARO 5:295-304.
16.     Smith RJH. (2004) Lymphatic malformations. Lymphatic Res Biol 2:25-31.
17.     Mahdieh N, Nishimura C, Ali-Madadi K, Riazalhosseini Y, Yazdan H, Arzhangi S, Jalalvand K, Ebrahimi A, Kazemi S, Smith RJH, Najmabadi H. (2004)The frequency of GJB2 mutations and the Δ(GJB6-D13S1830) deletion as a cause of autosomal recessive non-syndromic deafness in the Kurdish population. Clinic Genet 65:506-508.
18.     Brown CL, Graham SM, Griffin MC, Smith RJ, Carter KD, Nerad JA, Bauman NM. (2004) Pediatric medial subperiosteal orbital abscess: medical management where possible. Am J Rhinol 18:321-7.
19.     Guo Y, Pilipenko V, Lim LH, Dou H, Johnson L, Srisailapathy CR, Ramesh A,Choo DI, Smith RJ, Greinwald JH. Refining the DFNB17 interval inconsanguineous Indian families. (2004) Mol Biol Rep 31:97-105.
20.     Sewell RK, Song C, Bauman NM, Smith RJH, Blanck P. (2004) Hearing loss in Union Army veterans from 1862 to 1920. Laryngoscope 114:2147-53.
21.     Leykin I, Hao K, Cheng J, Meyer N, Pollak MR, Smith RJH, Wong WH, Rosenow C, Li C. (2005) Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data. BMC Genetics 6:7.
22.     Daneshi A, Farhadi M, Mohseni M, Mahdieh N, Ebrahimi A, Bazazzadegan N, Naghavi A, Avenarius M, Arzhangi S, Smith RJH. (2005) GJB2 mutations – passage through Iran. Am J Med Genet 133A:132-137.
23.     Maeda Y, Fukushima K, Kakiuchi M, Orita Y, Nishizaki K, Smith RJH. (2005) RT-PCR analysis of Tecta, Coch, Eya4 and Strc in mouse cochlear explants. Neuroreport 16:361-365.
24.     Smith RJH, Bale JF, White KR. (2005) Sensorineural hearing loss in children. Lancet 365:879-890.
25.     Appel GB, Cook HT, Hageman G, Jennette JC, Kashgarian M, Kirschfink M, Lambris JD, Lanning L, Lutz HU, Meri S, Rose NR, Salant DJ, Sethi S, Smith RJH, Smoyer W, Tully HF, Tully SP, Walker P, Welsh M, Wurzner R, Zipfel PF. (2005) Membranoproliferative Glomerulonephritis Type II (Dense Deposit Disease): An Update. J Am Nephrol Soc 16: 1392-1403.
26.     Hageman GS, Hancox LS, Hardisty LI, Borchardt JD, Taiber AJ, Hageman JL, Stockman HA, Gehrs KM, Russell, Anderson DH, Johnson LV, Smith RJH, Silvestri G, Olsh AK, Bergeron J, Zernant J, Merriam J, Gold B, Dean M, Allikmets R. (2005) Common haplotype in the complement regulatory gene, factor H (HF1/CFH), predisposes individuals to age-related macular degeneration. Proc Nat Acad Sci 102:7227-32.
27.     Smith RJH. (2005) Recurrent tonsillitis among twins. JAMA 293:2925-2926.
28.     del Castillo FJ, Rodríguez-Ballesteros M, Álvarez A, Hutchin T, eonardoE, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre L, Martín Y, Moreno-Pelayo MA, Villamar M, Abraham KB, Dahl H-H M, Kanaan M, Nance WE, Petit C, Smith RJH, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I. (2005) A novel deletion involving the connexin-30 gene, del(GJB6-D13S1854), found in trans with mutations in the GJB2 gene (Connexin-26) in subjects with autosomal recessive non-syndromic hearing impairment. J Med Genet 42:588-594.
29.     Maeda Y, Fukushima K, Nishizaki K, Smith RJH. (2005) In vitro and in vivo suppression of GJB2 expression by RNA interference. Hum Mole Genet 14:1641-50.
30.     Van Laer L, Pfister M, Thys S, Vrijens K, Mueller M, Umans L, Serneels L, Van Nassauw L, Kooy F, Smith RJH, Timmermans J-P, Van Leuven F, Van Camp G. (2005) Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells. Neurobiol Dis 19: 386-99.
31.     Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJH. (2005) Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet 42(10): 61.
32.     Derkay CS, Smith RJH, McClay J, van Burik J-A H, Wiatrak BJ, Arnold J, Berger B, Neefe JR. (2005) HspE7 Treatment of Pediatric Recurrent Respiratory Papillomatosis (RRP): Final Results of an Open-Label Trial. Ann Otol Rhinol Laryngol 114: 730-737.
33.     Yang T, Pfister M, Blin N, Zenner HP, Pusch CM, Smith RJH. (2005) Genetic heterogeneity of deafness phenotypes linked to DFNA4. Am J Med Genet 139: 9- 13.
34.     Wemer RD, Lee JH, Hoffman HT, Robinson RA, Smith RJH. (2005) Case of progressive dysplasia concomitant with intralesional cidofovir administration for recurrent respiratory papillomatosis. Ann Otol Rhinol Laryngol 114:836-839.
35.     Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J,Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P,Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR,Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL,Tekin M, Incesulu A, Dahl HM, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M,Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I,Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M,Hoefsloot LH, Cremers CWRJ, Löppönen T, Löppönen H, Parving A, GronskovK, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-RuizN, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJH, Van Camp G. (2005) GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 77:945-958.
36.     Robin NH, Prucka SK, Woolley AL, Smith RJ. (2005) The use of genetic testing in the evaluation of hearing impairment in a child. Curr Opin Pediatr 17:709-12.
37.     Lee JH, Smith RJ. (2005) Recurrent respiratory papillomatosis: pathogenesis to treatment. Curr Opin Otolaryngol Head Neck Surg 13:354-9.
38.     Vore AP, Chang EH, Hoppe JE, Butler MG, Forrester S, Schneider MC, SmithLLH, Burke DW, Campbell CA, Smith RJH. (2005) A Deletion of and Novel Missense Mutation in POU3F4 in Two Families Segregating X-Linked Non-Syndromic Deafness. Arch Otolarygol 131:1057-1063.
39.     Knoll C, Smith RJH, Shores, C, Blatt J. (2006) Hearing Genes and Cisplatin Deafness: a Pilot Study. Laryngoscope 116:72-75.
40.     Kiss PJ, Knisz J, Zhang Y, Baltrusaitis J, Sigmund CD, Thalmann R, Smith RJH, Verpy E, Banfi B. (2006) Inactivation of NAPDH oxidase organizer 1 results in severe imbalance. Current Biol 16:208-213.
41.     Excoffon KJDA, Avenarius MR, Hansen MR, Kimberling WJ, Najmabadi H, Smith RJH, Zabner J. (2006) The coxsackievirus and adenovirus receptor: A new adhesion protein in cochlear development. Hearing Research 215(1-2):1-9.
42.     Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJH, Kimberling WJ. (2006) OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. J Med Genet 43:576-581.
43.     Abrera-Abeleda MA, Nishimura C, Smith JLH, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJH. (2006) Variations in the Complement Regulatory Genes Factor H (CFH) and Factor H Related 5 (CFHR5) are Associated with Membranoproliferative Glomerulonephritis Type II (Dense Deposit Disease). J Med Genet 43:582-9.
44.     Khanna G, Sato Y, Smith RJ, Bauman NM, Nerad J. (2006) Causes of facial swelling in pediatric patients: correlation of clinical and radiologic findings. Radiographics 26:157-71.
45.     Goudy S, Lott D, Canady J, Smith RJ. (2006) Conductive hearing loss and otopathology in cleft palate patients. Otolaryngol Head Neck Surg. 134(6):946-8.
46.     Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Mohseni M,Mojahedi F, Daneshi A, Najmabadi H, Smith RJH. (2007) Sensorineural Deafness and Male Infertility – A Contiguous Gene Deletion Syndrome. J Med Genet  44:233-40.
47.     Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers R, Smith RJ, Petersen MB, Van Camp G. (2007) A seventh locus for otosclerosis, TSC7,maps to chromosome 6q13-16.1. Eur J Hum Genet 15:362-368.
48.     Khan SY, Ahmed ZM, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S,Ramesh A, Srisailpathy S, Khan SN, Smith RJH, Riazuddin S, Friedman TB, Riazuddin S. (2007) Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mut 28:417-423.
49.     Hildebrand MS, de Silva MG, Klockars T, Campbell CA, Smith RJH, Dahl HH. (2007) Gene expression profiling analysis of the inner ear. Hearing Res 225:1-10.
50.     Kochhar A, Fischer SM, Kimberling WJ, Smith RJH. (2007) Branchio-oto-renal syndrome. Am J Med Genet 143A:1671- 1678.
51.     Hoskins BE, Cramer II CH, Silvius D, Zou D, Raymond Jr RM, Orten DJ,Kimberling WJ, Kumar S, Smith RJH, Weil D, Petit C, Otto EA, Xu P-X,Hildebrandt F. (2007) The Transcription Factor SIX5 is Mutated in Patients with Branchio-Oto-Renal Syndrome. Am J Hum Genet 80:800-804.
52.     Duncan RD, Prucka S, Wiatrak BJ, Smith RJH, Robin NH. (2007) Pediatric otolaryngologists’ use of genetic testing. Arch Otolaryngol 133:231-37.
53.     Chen W, Meyer NC, McKenna MJ, Pfister M, McBride DJ, Fukushima K, Thys M,Camp GV, Smith RJH. (2007) Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis. Clin Genet 71:406-414.
54.     Schwander M, Sczaniecka A, Grillet N, Bailey JS, Avenarius M, Najmabadi H, Steffy BM, Federe GC, Lagler EA, Banan R, Hice R, Grabowski-Boase L, Keithley EM, Ryan AF, Housley GD, Wiltshire T, Smith RJ, Tarantino LM, Muller U. (2007) A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci 27(9):2163-75.
55.     Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerbäck S, Smith RJH. (2007) Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Non-syndromic Enlargement of Vestibular Aqueduct (DFNB4). Am J Hum Genet 80:1055-63.
56.     Maeda Y, Fukushima K, Nishizaki K, Smith RJH. (2007) Cochlear expression of adominant-negative GJB2R75W construct delivered through the round window membrane in mice. J Neurosci Res 2007 Mar 24 [Epub ahead of print].
57.     Skerka C, Lauer N, Weinberger AWA, Keilhauer CN, Smith RJH, chlötzer–Schrehardt U, Heinen S, Hartmann A, Weber BFH, Zipfel PE. (2007) Effective complement control of FHL-1 and Factor H (Y402H) in age-related macular degeneration. Mol Immunol 44:3398-3406.
58.     Abrera-Abeleda MA, Xu Y, Pickering MC, Smith RJH, Sethi S. (2007) Mesangialimmune complex glomerulonephritis due to complement factor D eficiency. Kidney Inter 71:1142-1147.
59.     Van Laer L, Meyer NC, Malekpour M, Riazalhosseini Y, Moghannibashi M,Kahrizi K, Vandevelde A, Alasti F, Najmabadi H, Van Camp G, Smith RJH. (2007) A novel DFNA5 mutation does not cause hearing loss in an Iranian family. J Hum Genet 52:549-552.
60.     Meyer NC, Alasti F, Nishimura CJ, Imanirad P, Kahrizi K, Riazalhosseini Y,Malekpour M, Kochakian N, Jamali P, Van Camp G, Smith RJH, Najmabadi H. (2007) Identification of three novel TECTA mutations in Iranian families with utosomal recessive non-syndromic hearing impairment at the DFNB21 locus. Am J Med Gen 143A:1623-1630.
61.     Brookes JT, Smith MC, Smith RJH, Bauman NM, Manaligod JM, Sandler AD. (2007) Htype congenital tracheoesophageal fistula: University of Iowa experience 1985-2005. Ann Otol Rhinol Laryngol 116:363-368.
62.     Hildebrand MS, Coman D, Yang T, Gardner RJ, Rose E, Smith RJH, Bahlo M, Dahl H-H M. (2007) DFNA10 hearing loss due to a novel splice site mutation in EYA4. Am J Med Gen 143A:1599-1605.
63.     Azaiez H, Smith RJH. (2007) Temporal bone imaging in GJB2 deafness. Laryngoscope 117:1127.
64.     Meyer NC, Nishimura CJ, McMordie S, Smith RJH. (2007) Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree. Clin Genet 72:130-37.
65.     Thys M, Schrauwen I, Vanderstraeten K, Janssens K, Dieltjens N, Van Den Bogaert K, Fransen E, Chen W, Ealy M, Claustres M, Cremers CRWJ, Dhooge I, Declau F, Claes J, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJH, Van Camp G. (2007) The coding polymorphism T263I in TGF-β1 is associated with otosclerosis in two independent population. Hum Mole Genet Jun 22; [Epub ahead of print].
66.     Kochhar A, Hildebrand MS, Smith RJH. (2007) Clinical Aspects of Hereditary Hearing Loss. Genet Med 9:393-409.
67.     Kahrizi K, Malekpour M, Nishimura C, Reazalhosseini Y, Smith RJ, Najmabadi H. (2007) Phenotypic Implications and Genotypic Clues of GJB2-Related Deafness. Clinical Genetics (In press).
68.     Smith RJH, Alexander J, Barlow PN, Botto M, Casavant TL, Cook HT, deCordoba SR, Hageman GS, Jokiranta S, Kimberling WJ, Lambris JD, Lanning LD, Levidiotis V, Licht C, Lutz HU, Meri S Pickering MC, Quigg RJ, Rops AL, Salant DJ, Sethi S, Thurman JM, Tully HF, Tully SP, Van der Vlag J, Walker PD, Wurzner R, Zipfel PF. New approaches to the treatment of Dense Deposit Disease. J Am Soc Nephrol 2007 Aug 5 [Epub ahead of print]. 
69.     Hildebrand MS, de Silva MG, Tan TY, Rose E, Nishimura C, Tolmachova T, Hulett JM, White SM, Whisstock J, Silver J, Seabra MC, Bahlo M, Smith RJH, Dahl H-HM. (2007) Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness. Am J Med Gen (In press).
70.     Alagramam KN, Miller ND, Adappa ND, Pitts DR, Heaphy JC, Yuan H, Smith RJH. Promoter, alternative splice forms and genomic structure of protocadherin 15. Genomics (In press). 
71.     Guipponi M, Toh M-Y, Tan J, Park D, Hanson K, Ballana E, Kwong D, Cannon PZF, Wu Q, Gout A, Delorenzi M, Speed TP, Smith RJH, Dahl HH, Petersen M, Teasdale RD, Estivill X, Park WJ, Scott HS. An integrated genetic and functional analysis of the type II transmembrane serine proteases in hearing loss. Hum Mut (In press).
72.     Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJH. Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet (In press).
73.     Woodson E, Smith RJH. Bilateral pneumolabyrinth diagnostic for otic capsulefractures without high-resolution imaging. Otolaryngol-Head Neck Surg (In press).