Richard J.H. Smith, M.D.

President

Download Area

Organizer

Principal Organizer

Department of Otolaryngology – Head & Neck Surgery, Chinese PLA General Hospital

Co-Organizers

Biochip National Engineering Research Center

Aomaier Genetic Technology Limited Company

Contact Us

For enquiries, please contact the Conference Secretariat:

Conference Secretariat of ISDGM2009

Genetic Testing Center for Deafness,

Inst. of Otolaryngology,

Chinese PLA General Hospital,

28 FuXing Road, Beijing, 100853, China

Tel: (86) 10-6815 7998 (Mandarin and English)
Fax: (86) 10-6815 7998
Email:
daisy9716@yahoo.com.cn
(Dr. Bing Han)
wjcmu@163.com
(Dr. Guo-Jian Wang)

Richard J.H. Smith, M.D.

Richard Smith is the Sterba Hearing Research Professor and Vice Chair of the Department of Otolaryngology at the University of Iowa. He also is Director of the Molecular Otolaryngology Research Laboratories (MORL) and Professor of Otolaryngology, Pediatrics and Internal Medicine in the Division of Nephrology. His primary clinical interest is in the care of deaf and hard-of-hearing children. He sees and operates on patients two days each week; the remaining time is spent in the Molecular Otolaryngology Research Laboratories, which he established and directs.

The over-riding objective of the MORL is to improve health care for deaf persons. To meet this goal, the MORL has a Clinical Diagnostics Division and a Basic Research Division. The former was CLIA certified in 1999 and accredited by JCAHO in 2001, making it the oldest diagnostic laboratory to offer mutation screening for deafness in the United States. The impact of this service has been enormous, effectively changing the medical workup of the deaf patient by making genetic testing the single most cost-effective test in their evaluation.

In the Basic Research Division, graduate and post-doctoral students have made numerous discoveries that have significantly contributed to our understanding of the biology of hearing and deafness, including work using RNAi to rescue hearing loss in a mouse model of deafness. With collaborators in Belgium, the MORL also maintains the Hereditary Hearing Loss Homepage, the primary web resource for scientists working on human deafness.

In recognition of his research accomplishments in deafness, Dr Smith was elected to the National Academies in 2006 and to the Association of American Physicians in 2009.

UNIVERSITY OF IOWA

CARVER COLLEGE OF MEDICINE

CURRICULUM VITAE

Richard J.H. Smith, MD

Sterba Hearing Research Professor

Professor of Otolaryngology, Internal Medicine and Pediatrics

I. EDUCATIONAL AND PROFESSIONAL HISTORY

A. Education

1974 BA Rice University (Biochemistry)

1977 MD Baylor College of Medicine

1977-78 Internship University of Texas Health Science Center

Houston, Texas

1978-79 General Surgery University of Texas Health Science Center

Residency Houston, Texas

1979-82 Otolaryngology Baylor College of Medicine

Residency Houston, Texas

1982-83 Fellowship The Hospital for Sick Children

Pediatric Otolaryngology, London, England

1990-91 Post-Doctoral Training Medical Research Council

Institute of Hearing Research

Nottingham, England

Certification: Diplomate, American Association of Otolaryngology-HNS

September, 1982

Licensure:

1. Texas June, 1977 Permanent E8924

2. Iowa February, 1997 Permanent 27940

B. Academic Appointments

1983-88 Assistant Professor Department of Otolaryngology

Baylor College of Medicine

1988-90 Associate Professor Department of Otolaryngology

Baylor College of Medicine

1990- Professor Department of Otolaryngology

University of Iowa Carver College of Medicine

1996- Professor Interdisciplinary Genetics PhD Program

University of Iowa Graduate School

1999- Sterba Hearing University of Iowa Carver College of Medicine

Research Professor

2005- Professor Department of Internal Medicine,

Division of Nephrology,

University of Iowa Carver College of Medicine

2005- Professor Department of Pediatrics,

Smith RJH 2

University of Iowa Carver College of Medicine

C. Honors and Awards

1974 Phi Beta Kappa

1974 Phi Lambda Upsilon

1974 Queeny Foundation Academic Scholarship

1975 A.B. Cohn Academic Scholarship

1982 Harriet Cunningham Citation: Awarded for meritorious scientific writing in

recognition of articles of exceptional scientific quality.

1985 Texas Department of Health: Certificate of Appreciation in Recognition of

Meritorious Service to the State of Texas

1991 Barry J. Anson Outstanding Teacher Award

1992 Shirley Baron Award: Outstanding Research

1994 The Best Doctors in America, 1994. South Carolina: Woodward/White Inc.

1995 Seymour Cohen Award: Outstanding Clinical Research

1995 Barry J. Anson Outstanding Teacher Award

1996 Stowell-Orbison Award (2nd): United States and Canadian Academy of Pathology

(Outstanding Research)

1997 Alberta Heritage Foundation Visiting Professor and Honored Guest in Medical

Genetics

1999 Collegium ORLAS

1999 William Potsic Award (1st): Outstanding Basic Science Research, ASPO

1999 The Best Doctors in America, 1999. South Carolina: Woodward/White Inc.

2001 Charles Ferguson Award (1st): Outstanding Clinical Research, ASPO

2002 William Potsic Award (1st): Outstanding Basic Science Research, ASPO

2002 The Best Doctors in America, 2002. South Carolina: Woodward/White Inc.

2002 State of Iowa Quality of Care Award (given annually to two doctors in Iowa for

integrity and professionalism and being chosen as a role model for community

leadership)

2003 Guest of Honor, Canadian Society of Otolaryngology – Head and Neck Surgery

2003 Robin Cotton and Cynthia Fitton Award and Honored Guest, American Academy

of Otolaryngology – Head and Neck Surgery

2003 Robert Ruben Award and Honored Guest – Society for Ear, Nose and Throat

Advances in Children (SENTAC)

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

Smith RJH 3

2007 The Harkins Memorial Lecture, The Department of Otolaryngology, St Louis

University

2007 Guest of Honor, Middle East Update in Otolaryngology – Head and Neck

Surgery, Dubai, UAE

II. TEACHING AT THE UNIVERSITY OF IOWA

A. Teaching Assignments

1. Classroom Teaching

1991 Functional Endoscopic Sinus Surgery; Course Director; May, 1991

1992 2nd Annual Functional Endoscopic Sinus Surgery Course - Advanced Techniques

and Complications; Course Director; May, 1992

1993 3rd Annual Functional Endoscopic Sinus Surgery Course; Course Director; May,

1993

1994 4th Annual Functional Endoscopic Sinus Surgery Course; Course Director; May,

1994

1995 5th Annual Functional Endoscopic Sinus Surgery Course; Course Director, May,

1995

1995 Medical Ethics M2 Course, 1 hour/week, September - December

1995 Medical Genetics M1 Course – Small Group Session

1996 6th Annual Functional Endoscopic Sinus Surgery Course; Course Director, May,

1996

1996 Medical Genetics M1 Course – Small Group Session

1997 7th Annual Functional Endoscopic Sinus Surgery Course; Course Director, June,

1997

1997 Human Genetics, Genetics PhD Program

1997 Medical Genetics M1 Course – Small Group Session

1998 8th Annual Functional Endoscopic Sinus Surgery Course; Course Director, June,

1998

1998 Human Genetics, Genetics PhD Program

1998 Medical Genetics M1 Course – Small Group Session

1999 9th Annual Functional Endoscopic Sinus Surgery Course; Course Director, June,

1999

1999 Human Genetics, Genetics PhD Program

1999 Medical Genetics M1 Course – Small Group Session

2000 Genetics Seminar Course 127:200, Genetics PhD Program

2000 Human Genetics, Genetics PhD Program

2000 Medical Genetics M1 Course – Small Group Session

2001 11th Annual Functional Endoscopic Sinus Surgery Course; Course Director,

June, 2001

2001 Human Genetics, Genetics PhD Program

2001 Medical Genetics M1 Course – Small Group Session

2002 1st Iowa Airway Course, April, 2002

2002 12th Annual Functional Endoscopic Sinus Surgery Course; Course Director,

June, 2002

2002 Human Genetics, Genetics PhD Program

Smith RJH 4

2002 Medical Genetics M1 Course – Small Group Session

2003 2nd Iowa Airway Course, April, 2003

2003 13th Annual Functional Endoscopic Sinus Surgery Course; Course Director,

June, 2003

2003 Human Genetics, Genetics PhD Program

2003 Medical Genetics M1 Course – Small Group Session

2004 Human Genetics, Genetics PhD Program

2004 Medical Genetics M1 Course – Small Group Session

2004 3rd Iowa Airway Course

2004 14th Annual Functional Endoscopic Sinus Surgery Course; Course Director

2005 Medical Genetics M1 Course – Small Group Session

2005 4th Iowa Airway Course

2005 15th Annual Functional Endoscopic Sinus Surgery Course; Course Director

2006 Medical Genetics M1 Course – Small Group Session

2006 16th Annual Functional Endoscopic Sinus Surgery Course; Course Director

2. Clinical Teaching

1990- Pediatric Rounds 1 hour/week, 52 weeks/year

1990- Clinical Conferences 3-4 days/year

1990- Neonatology Rounds 2 hours/year

B. Graduate and Post-Graduate Students

1. Thesis Advisor – Graduate Students Supervised

Norio Kasai - PhD awarded December, 2000.

Tao Yang - PhD awarded May, 2005.

Wenjie Chen - PhD awarded May, 2006.

Hela Azaiez - PhD candidate, University of Sfax, Tunisia. Thesis advisor.

Colleen Campbell – PhD candidate, Biosciences Program. Thesis advisor.

Sarah McMordie – PhD candidate, Biosciences Program. Thesis advisor.

Maria Abrera-Abeleda – PhD candidate, Biosciences Program. Thesis advisor.

Abe Sheffield – PhD candidate, Biosciences Program. Thesis advisor.

Megan Ealy – PhD candidate, Biosciences Program. Thesis advisor.

2. Thesis Committee

Daryl Scott

Bryan Bjork

Smith RJH 5

Doug Dylla

Paul Grandgenett

Xie Hehuang

Peter Jezewski

Rebecca Schultz

Theresa Zucchero

Ryan Kavlie

Sokol Todi

Lea Davis

Roger Davis

Janine Nicole Martin

Laura Fraczek

3. Post-doctoral Students

Yuzhou Zhang, PhD – 2002-2005

Yukehide Maeda, PhD – 2003-2006

Tao Yang, PhD – 2005-present

Michael Hildebrand, PhD – 2006-present

C. Pediatric Otolaryngology Fellows Trained

Mike Biavati,MD – July, 1992 – June, 1993

Nancy Bauman, MD – July, 1993 – June, 1994

John Bent, MD – July, 1994 – June, 1995

Leila Mankarious, MD – July, 1995 – June, 1996

John Greinwald, MD – July, 1996 – June, 1998

Jose Manaligod, MD – July, 1997 – June, 1999

Glenn Green, MD – July, 1998 – June, 2000

Smith RJH 6

Stephen Hone, MD – July, 2000 – June, 2002

Chantal Giguere, MD – July, 2000 – June, 2002

Ben Cable, MD – July, 2001 – June, 2003

Murad Hussein, MD – July, 2002 – June, 2004

Steven Goudy, MD – July, 2003 – June, 2005

Mark Smith, MD – July, 2004 – June, 2006

James Brookes – July, 2005 – June, 2007

D. Instructional Web Pages

Hereditary Hearing Loss Homepage (http://dnalab-www.uia.ac.be/dnalab/hhh/)

III. SCHOLARSHIP

A. Bibliography

Papers Published or In Press

1. Jarratt M, Smith, RJH, Knox J. Therapy of herpes simplex infection. Int J Derm

18(5):357-361, 1979.

2. Igarashi M, O-Uchi T, Smith RJH, Stout B. Inner ear pathology in deaf mutism.

J Otolaryngol 10(2):99-108, 1981.

3. Sessions RB, Lehane D, Smith RJH, Bryan N, Suen J. Intra-arterial cisplatintreatment

of adenoid cystic carcinoma. Arch Otolyngol 108(4):221-224, 1982.

4. Smith RJH, Sessions RB, Bean S. Benign mucous membrane pemphigoid. Ann

Oto Rhino Laryngol 91(2):142-144, 1982.

5. Smith RJH. Creating alaryngeal speech. Ear Nose Throat J 61(4):18-27, 1982.

6. Smith RJH, Sessions RB. The occult primary. Texas Med 78(10):55-58, 1982.

7. Smith RJH, Catlin FI. Congenital anomalies of the larynx. Am J Dis Child

138(1):35-40, 1984.

8. Smith RJH, Smith MCF, Glossop LP, Bailey CM, Evans JHG. Congenital

vascular anomalies causing tracheo-esophageal compression. Arch Otolaryngol

110(2):82-87, 1984.

9. Smith RJH, Catlin FI. Pediatric Otolaryngology. Watch 30(2):20-24, 1984.

Smith RJH 7

10. Smith RJH, Evans JNG. Head and neck manifestations of

histiocytosis-x.Laryngoscope 94(3):395-399, 1984.

11. Spankus E, Flint P, Smith RJH, Miller RH. Craniocervical necrotizing fasciitis.

Otolaryngol Head Neck Surg 92(3):261-266, 1984.

12. Glossop LP, Smith RJH, Evans JNG. Posterior laryngeal cleft: An analysis of 10

cases. Int J Ped Otolaryngol 7(2):133-143, 1984.

13. Smith MCF, Smith RJH, Bailey CM. Primary cervical neuroblastoma in

neonates. J Laryngol Otol XCIX(2):209-214, 1985.

14. Spires JR, Smith RJH, Catlin FI. Brain abscesses in children. Otolaryngol Head

Neck Surg 93(4):468-473, 1985.

15. Smith RJH. Classical influence on aural anatomy and physiology. Sydsvensk

medicinhistoriska 12:69-81, 1985.

16. Wright CL, Smith RJH, Katz CD, Atkins JH. Benign parotid diseases of

childhood. Laryngoscope 95(8):91 1985.

17. Smith RJH, Coombe WT. Aero-digestive compromise due to congenital vascular

anomalies. Contemporary Pediatrics 2(10):94-106, 1985.

18. Franklin DJ, Smith RJH, Person DA, Pflugfelder SC. Sjogren's syndrome in

children. Otolaryngol Head Neck Surg 94(2):230-234, 1986.

19. White AK, Smith RJH, Bigler CR, Brooke WF, Schauer, P.R. Head and neck

manifestations of neurofibromatosis. Laryngoscope 96(7):732-737, 1986.

20. Spires JR, Smith RJH. Bacterial infections of the orbital and periorbital

soft-tissues in children. Laryngoscope 96(7):763-767, 1986.

21. Spires JR, Smith RJH. Cat-scratch disease. Otolaryngol Head Neck Surg

94(5):622-627, 1986.

22. White AK, Smith RJH. Thyroid nodules in children. Otolaryngol Head Neck Surg

95(1) :70-75, 1986.

23. Franklin DJ, Smith RJH, Catlin FI, Helfrick JF, Foster JH. Temporo-mandibular

joint dysfunction in infancy. Int J Ped Otolaryngol 12(1):99-104, 1986.

24. Kearns DB, Smith RJH, Pitcock JK. Burkitt's lymphoma. Int J Ped Otolaryngol

12(1):73-84, 1986.

25. Smith RJH. Editorial comment. Head Neck Surg 8(3):1986.

26. Weber RS, Kearns D, Smith RJH. Split calvarium cranioplasty. Arch Otolaryngol

Head Neck Surg 113(1):84-89, 1987.

Smith RJH 8

27. Cepero R, Smith RJH, Catlin FI, Bressler KL, Furuta GT, Shandera KC. Cystic

fibrosis - an otolaryngologic perspective. Otolaryngol Head Neck Surg

97(4):356-360, 1987.

28. Smith RJH. Laryngotracheal stenosis. Head Neck Surg 10(1):38-47, 1987.

29. Catlin FI, Smith RJH. Acquired Subglottic Stenosis in Children. Ann Otol Rhinol

Laryngol 96(5):488-492, 1987.

30. Daiger SP, Bertin TK, Smith RJH, Pelias MZ. Linkage of Usher's syndrome to

CC on human chromosome 4. Human Gene Mapping 9, Cytogenet Cell Genet

46(1-4):602, 1987.

31. Brock ME, Smith RJH, Parey SE, Mobley DL. Lymphangioma - an

otolaryngologic perspective. Int J Ped Otolaryngol 14:133-140,1987.

32. Robinson LN, Smith RJH, Rightmire Z, Torpy JM, Fernbach, DJ. Head and neck

malignancies in children - an age-incidence study. Laryngoscope 98(1):11-13,

1988.

33. Smith RJH. Adenoidal hypertrophy and facial deformity. The collected letters of

the international correspondence society of otolaryngologists. Series 23:16.

34. Smith RJH. Choanal atresia. The collected letters of the international

correspondence society of otolaryngologists. Series 23:16.

35. Diaz E, Adams J, Hawkins H, Smith RJH. Tracheal agenesis: a case report &

literature review. Arch Otolaryngol 115(6):741-5, 1989.

36. Smith RJH, Holcomb JD, Daiger SP, Caskey CT, Pelias MZ, Alford BR, Fontenot

DD, Hejtmancik JF. Exclusion of Usher's syndrome gene from much of

chromosome 4. Cytogenet Cell Genet 50(2-3):102-106, 1989.

37. Smith RJH. A DNA linkage study of Usher's syndrome excluding much of

chromosome 4. Laryngoscope 99(9):940-9, 1989.

38. Dailey ME, O'Laughlin MP, Smith RJH. Airway compression secondary to left

atrial enlargement and increased pulmonary artery pressure. Int J Otolaryngol

19:33-44, 1990.

39. Ohlms LA, Edwards MS, Mason EO, Igarashi M, Alford BR, Smith RJH.

Recurrent meningitis and Mondini dysplasia. Arch Otolaryngol 116(5):608-12,

1990.

40. Kimberling WJ, Weston MD, Moller C, Davenport SLH, Shugart YY, Priluck IA,

Martini A, Smith RJH. Localization of Usher syndrome type II to chromosome lq.

Genomics 7: 245-49, 1990.

Smith RJH 9

41. Connolly PK, Stout GG, Williams ST, Jorgensen S, Smith RJH. Oral habilitation

of the child with no response on brainstem audiometry. Pediatrics

86(2):217-220, 1990.

42. DuBois JJ, Pokorny WJ, Harberg FJ, Smith RJH. Current management of

laryngeal and laryngotracheoesophageal clefts. J Pediatr Surg 25(8):855-60,

1990.

43. Eicher SA, Coker NJ, Alford BR, Igarashi M, Smith RJH. A comparative study of

the fallopian canal at the meatal foramen and labyrinthine segment in young

children and adults. Arch Otolaryngol 116:1030-1035, 1990.

44. Pelias MZ, Smith RJH, Daiger SP, Hejtmancik JF. Usher syndrome in Louisiana.

Proceedings of the Sixth World Congress of the International Retinitis

Pigmentosa Association, 1990.

45. Kimberling WJ, Weston MD, Dahl PS, Shugart YY, Kenyon JB, Overbeck L,

Moller C, Martini A, Smith RJH, Milani M. Progress in the localization of the

Usher syndrome genes. Proceedings of the Sixth World Congress of the

International Retinitinitis Pigmentosa Association, l990.

46. Smith RJH, Catlin FI. Laryngotracheal stenosis: A five-year study. Head Neck

Surg 13(2):140-144, 1991.

47. Pieke-Dahl S, Weston MD, Kimberling WJ, Kenyon JB, Shugart YY, Smith RJH.

Report on attempts to localize Usher syndrome type 1 by linkage analysis to

selected candidate regions. Ann N Y Acad Sci 630:298-300, 1991.

48. Weston MD, Kimberling WJ, Möller CG, Pieke-Dahl S, Smith RJH, Martini A,

Milani M. A progress report on the localization of Usher syndrome type II to

chromosome 1q. Ann N Y Acad Sci 630:284-287, 1991.

49. Kimberling WJ, Weston M, Pieke-Dahl S, Kenyon JB, Shugart YY, Möller, C,

Davenport SL, Martini A, Milani M, Smith RJ. Genetic studies of Usher

syndrome. Ann N Y Acad Sci 630:167-175, 1991.

50. Smith RJH, Ohlms LA, Alford BR, Edwards MS. Mondini dysplasia is not

associated with meningitis and cerebrospinal fluid fistula. Archives Otolaryngol

117:931-932, 1991.

51. Smith RJH, Snyderman, NL. Fibrosarcoma of the infratemporal fossa in an eight

year old. Controversies. Head Neck 13(2):156-159, 1991.

52. Smith RJH, Synderman, NL. Distal tracheal compression. Controversies. Head

Neck 13(3):251-254, 1991.

53. Steel KP, Smith RJH. Normal hearing in splotch (Sp/+), the mouse homologue of

Waardenburg syndrome type I. Nature Genet 2:75-79, 1992.

Smith RJH 10

54. Connolly PK, Jerger S, Williamson WD, Smith RJH, Demmler G. Evaluation of

central auditory function in children with asymptomatic congenital

cytomegalovirus. Amer J Otol 13:185-193, 1992.

55. Smith RJH, Pelias MZ, Daiger SP, Keats B, Kimberling WJ, Hejtmancik JF.

Clinical and genetic heterogeneity within the Acadian Usher population. Amer J

Human Genet 43:964-969, 1992.

56. Blumer JR, Bauman NM, Kearns DB, Smith RJH. Distal tracheal stenosis in

neonates and infants. Otolaryngology Head Neck Surg 107:583-590, 1992.

57. Smith RJH, Steel KP, Barkway C, Soucek S, Michaels L. A histological study of

non-morphogenetic forms of hereditary hearing impairment. Arch Otolaryngol

118:1085-1094, 1992.

58. Smith RJH, Zimmerman B, Connolly PK, Jerger SW, Yelich A. Screening

audiometry using the high risk register in a level III nursery. Arch Otolaryngol

118:1306-1311, 1992.

59. Robinson MF, Furst EJ, Nunziata V, Brandi ML, Ferrer JP, Martins Bugalh MJG,

diGiovanni G, Smith RJH, Donovan DT, Alford BR, Hejtmancik JF, Colantuoni V,

Quadri L, Limbert E, Halperin I, Vilardell E, Gagel RF. The multiple endocrine

neoplasia type 2/cutaneous lichen amyloidosis syndrome - clinical feature of a

new variant. Calcium Regulation, Bone Metabolism - Basic and Clinical Aspects

11, 1992.

60. Keats BJB, Todorov AA, Atwood LD, Pelias MZ, Hejtmancik JF, Kimberling WJ,

Leppert M, Lewis RA. Smith RJH. Linkage studies of Usher syndrome type I:

exclusion results from the Usher syndrome consortium. Genomics 14(3):707-

714, 1992.

61. Kimberling W, Smith RJH. Gene Mapping of the Usher Syndromes. Clinics N

Amer 25(5):923-934, 1992.

62. Kumar S, Kimberling WJ, Kenyon JB, Smith RJH, Marres HAM, Cremers CWRJ.

Autosomal dominant branchio-oto-renal syndrome - localization of a disease

gene to chromosome 8q by linkage in a Dutch family. Human Molecular Genet

1(7):491-496, 1992.

63. Smith RJH, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJB, Jay M,

Bird A, Reardon W, Guest M, Ayyagari R, Hejtmancik JF: Localization of two

genes for Usher syndrome type I to chromosome 11. Genomics 14(4):995-1002,

1992.

64. Kimberling WJ, Möller CG, Davenport S, Priluck IA, Beighton PH, Reardon W,

Kenyon JB, Grunkmeyer JA, Pieke Dahl S, Overbeck LD, Blackwood DJ, Brower

AM, Hoover DM, Rowland P, Smith RJH. Linkage of Usher syndrome type I to

the long arm of chromosome 11. Genomics 14(4):988-994, 1992.

Smith RJH 11

65. Smith RJH, Coppage KB, Ankerstjerne JKB, Capper DT, Kumar S, Kenyon J,

Kimberling WJ. Localization of the gene for branchiootorenal syndrome to

chromosome 8q. Genomics 14(4):841-844, 1992.

66. Smith RJH, Synderman NL. Juvenile nasopharyngeal angiofibroma.

Controversies. Head Neck 14(1): 67-71, 1992.

67. Smith RJH, Snyderman NL. Fibrous dysplasia. Controversies. Head Neck

14(6):510-512, 1992.

68. Wackym PA, Simpson TA, Gantz BJ, Smith RJH. Polymerase chain reaction

amplification of DNA from archival celloidin-embedded human temporal bone

sections. Laryngoscope 103(6):583-588, 1993.

69. Gartlan MG, Davies J, Smith RJH. Congenital Oral Synechiae. Ann Otol

Laryngol Rhinol 102(3):186-197, 1993.

70. Walker WP, Smith RJH, Cohen MB. Fine needle aspiration biopsy of

subcutaneous fat necrosis of the newborn. Diag Cytopathol 9(3):329-332,1993.

71. Gartlan MG, Peterson KL, Hoffman HT, Luschei ES, Smith RJH. The bipolar

hooked-wire electromyographic technique in the evaluation of pediatric vocal

cord paralysis. Ann Otol Laryngol Rhinol 102:695-700, 1993.

72. Trigg ME, Menezes AH, Giller R, Lanza L, Smith RJH, Yutako S, Peters C,

Altman A. Operative treatment of disseminated aspergillosis of the lung and

brain following a marrow transplant: a case report. Bone Marrow Transplantation

11:493-496, 1993.

73. Smith RJH, Snyderman NL. Neonatal vocal cord paralysis. Controversies.

Head Neck 15(2):169-172, 1993.

74. Endres D, Bauman NM, Burke D, Smith RJH. Acyclovir in the treatment of

recurrent respiratory papillomatosis. Ann Otol Laryngol Rhinol 103:301-305,

1994.

75. Smith RJH, Berlin C, Hejtmancik JF, Keats B, Kimberling WJ, Lewis RA, Möller

CG, Pelias MZ, Tranebjærg L. Clinical diagnosis of the Usher syndromes. Am J

Med Genet 50:32-38, 1994.

76. Bauman NM, Sandler AD, Schmidt C, Maher JW, Smith RJH. Reflex

laryngospasm induced by stimulation of distal esophageal afferents.

Laryngoscope 104:209-214, 1994.

77. Bittleman DB, Smith RJH, Weiler JM. Abnormal movement of the arytenoid

region during exercise presenting as exercise-induced asthma in an adolescent

athlete. Chest 106:615-616, 1994.

78. Ni L, Wagner MJ, Kimberling, WJ, Pembrey ME, Grundfast KM, Kumar S, Daiger

SP, Wells DE, Johnson K, Smith RJH. Refined Localization of the

Smith RJH 12

branchiootorenal syndrome gene by linkage and haplotype analysis. Amer J

Med Genet 51:176-184, 1994.

79. Smith RJH, Neville MB, Bauman NM. Interarytenoid notch height relative to the

vocal folds: A pilot study. Ann Oto Laryngol Rhinol 103:753-757, 1994.

80. Burgess RC, Michaels L, Bale JF, Smith RJH. Polymerase chain reaction

amplification of Herpes Simplex Viral DNA from the geniculate ganglion of a

patient with Bell's palsy. Ann Oto Laryngol Rhinol 103:775-779, 1994.

81. Mankarious LA, Bauman NM, Sandler AD, Maher JW, McCulloch TM, Smith

RJH. Esophagolaryngeal adductor reflex induced by electrical stimulation of the

distal esophageal mucosa of dogs. Transactions, Am Broncho Esophagol Assoc

36-40, 1994.

82. Coppage K, Smith RJH. Branchio-Oto-Renal syndrome. J Amer Acad Audiol

6:103-110, 1995.

83. Simpson T, Smith RJH. Amplification of mitochondrial DNA from archival

temporal bone specimens. Laryngoscope 105(1):28-34, 1995.

84. Smith RJH. Decreased incidence of scoliosis in hearing impaired children:

implications for a neurological basis for idiopathic scoliosis. Spine 20:7, 1995.

85. Biavati MJ, Wood WE, Kearns DB, Smith RJH. One-stage repair of congenital

laryngeal webs. Otolaryngol Head Neck Surg 112:447-452, 1995.

86. Angeli SI, Alcalde J, Hoffman HT, Smith RJH. Langerhans' cell histiocytosis of

the head and neck in children. Ann Otol Laryngol Rhinol 104(3):173-180, 1995.

87. Laurenzo JF, Canady JW, Zimmerman MB, Smith RJH. Craniofacial growth in

rabbits. Effects of midfacial surgical trauma and rigid plate fixation. Arch

Otolaryngol Head Neck Surg 121:556-561, 1995.

88. Smith RJH. Management of inverted papilloma. Controversies. Head Neck

17:148-151, 1995.

89. Smith RJH. Chronic sinusitis in a child. Controversies. Head Neck 17:252-257,

1995.

90. Pinkston DR, Schubkegel AJ, Zimmerman MB, Smith RJH. The effects of sinus

surgery on midfacial growth in the rabbit. Amer J Rhinol 9(2):115-124, 1995.

91. Palmer PM, Dutton JM, McCulloch TM, Smith RJH. Trends in the use of

tracheotomy in the pediatric patient: The Iowa experience. Head Neck 17:328-

333, 1995.

92. Chen AH, Ni L, Fukushima K, Marietta J, O'Neill M, Coucke P, Willems P, Smith

RJH. Linkage of a gene for dominant non-syndromic deafness to chromosome

19. Human Mole Genet 4(6):1073-1076, 1995.

Smith RJH 13

93. Smith RJH, Bauman NM, Bent JP, Kramer M, Smits WL, Ahrens RC. Exerciseinduced

laryngomalacia. Ann Oto Laryngol Rhinol 104(7):537-541, 1995.

94. Dutton JM, Palmer PM, McCulloch TM, Smith RJH. Mortality in the pediatric

patient with tracheostomy. Head Neck 17:403-408, 1995.

95. Mathews K, Rapisarda D, Bailey HL, Murray JC, Schelper R, Smith R.

Phenotypic and pathologic evaluation of the MYD mouse. A candidate model for

facioscapulohumeral dystrophy. J Neuropathol Exp Neurol 54:601-606, 1995.

96. Fukushima K, Ramesh A, Srisailapathy CRS, Ni L, Chen A, O’Neill M, Camp GV,

Coucke P, Smith SD, Kenyon JB, Jain P, Wilcox ER, Zbar RIS, Smith RJH.

Consanguineous nuclear families used to identify a new locus for recessive nonsyndromic

hearing loss on 14q. Human Mole Genet 4(9):1643-1648, 1995.

97. Chen AH, Francis M, Ni L, Cremers CWRJ, Kimberling WJ, Sato Y, Phelps PD,

Bellman SC, Wagner MJ, Pembrey M, Smith RJH. Phenotypic manifestations of

branchiootorenal syndrome. Am J Med Genet 58:365-370, 1995.

98. Lesperance MM, Hall JW, Bess FH, Fukushima K, Jain PK, Ploplis B, San

Agustin TB, Skarka H, Smith RJH, Wills M, Wilcox ER. A gene for autosomal

dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. Hum

Mole Genet 4:1967-1972, 1995.

99. Van Camp G, Coucke P, Balemans W, Van Velzen D, Van de Bilt C, Van Laer L,

Smith RJH, Fukushima K, Padberg GW, Frants RR, Van de Heyning P, Smith

SD, Huizing EH, Willems PJ. Localization of a gene for non-syndromic hearing

loss (DFNA5) to chromosome 7p15. Hum Mole Genet 4(11):2159-2163, 1995.

100. Fukushima K, Arabandi R, Srisailapathy CRS, Ni L, Wayne S, O’Neill ME, Van

Camp G, Coucke P, Jain P, Wilcox ER, Smith SD, Kenyon JB, Zbar RIS, Smith

RJH. An autosomal recessive non-syndromic form of sensorineural hearing loss

maps to 3p-DFNB6. Genome Research 5:305-308, 1995.

101. Jain PK, Fukushima K, Deshmukh D, Arabandi R, Thomas E, Kumar S, Lalwani

AK, Ploplis B, Skarka H, Srisailapathy CRS, Wayne S, Zbar RIS, Verma IC,

Smith RJH, Wilcox ER. A human recessive neurosensory nonsyndromic hearing

impairment locus is a potential homologue of the murine deafness (dn) locus.

Hum Mole Genet 4:2391-4, 1995.

102. Ayyagari R, Smith RJH, Pelias MZ, Hejtmancik JF. Fine mapping of the Usher

syndrome type 1C to chromosome 11p14 and identification of flanking markers

by haplotype analysis. Mole Vision 1:1995.

103. Sawin PD, Muhonen MG, Sato Y, Smith RJH. Aneurysmal bone cyst of the

temporal bone presenting as hearing loss in a child. Inter J Ped Otorhinolaryngol

33:275-284, 1995.

Smith RJH 14

104. Zbar RIS, Smith RJH. Vocal fold paralysis in infants. Otolaryngol Head Neck

Surg 114:18-21, 1996.

105. Bauman NM, Sandler AD, Smith RJH. Respiratory symptoms of

gastroesophageal reflux disease in pediatric patients. Ann Oto Laryngol Rhinol

105:23-32, 1996.

106. Smith RJH. Infratemporal fossa mass in a pediatric patient. Controversies.

Head Neck 18(2):188-91, 1996.

107. Bent JP, Kim JW, Wilson JS, Miller DA, Bauman NM, Smith RJH. Pediatric

exercise-induced laryngomalacia. Ann Oto Laryngol Rhinol 105:169-75, 1996.

108. Bauman NM, Oyos TL, Murray DJ, Kao SCS, Biavati MJ, Smith RJH. Postoperative

care following single stage laryngotracheoplasty. Ann Oto Laryngol

Rhinol 105:317-22, 1996.

109. Zbar RIS, Chen AH, Behrendt DM, Bell EF, Smith RJH. The incidence of vocal

fold paralysis in infants undergoing ligation of patent ductus arteriosus. Ann Thor

Surg 61:814-6, 1996.

110. Ayyagari R, Smith RJH, Polymeropolous M, Dagner S, Pelias MZ, Wozencraft L,

Knpfer MK, Hejtmancik JF. Localization of the Usher syndrome type I gene in

the French Acadian population of Louisiana to chromosome 11p14-p15.1 by

linkage and haplotype analysis. Ind J Hum Genet 1:93-103, 1996.

111. O’Neill ME, Marietta J, Nishimura D, Wayne S, Van Camp G, Van Laer L, Negrini

C, Wilcox ER, Chen A, Fukushima K, Sheffield VC, Smith RJH. A gene for

autosomal dominant late-onset progressive non-syndromic hearing loss,

DFNA10, maps to chromosome 6. Hum Mole Genet 5:853-856, 1996.

112. Ayyagari R, Nestorowicz A, Li Y, Chandrasekharappa S, Chinault C, Van Tuinen

P, Smith RJH, Permult MA, Hejtmancik JF. Construction of a YAC contig

encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on

chromosome 11p14-15.1. Genome Research 6:504-14, 1996.

113. Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Sheffield VC,

Smith RJH. Localization of the Usher syndrome type ID (Ush1D) to chromosome

10. Hum Mole Genet 10:1689-92, 1996.

114. Smith RJH, Burke DK, Sato Y, Poust RI, Bauman NM. OK-432 therapy for

lymphangiomas. Arch Otolaryngol 122:1195-1200, 1996.

115. Reilly J, Thompson J, MacArthur C, Pransky S, Beste D, Smith M, Gray S,

Manning S, Walter M, Derkay C, Muntz H, Friedman E, Myer CM, Seibert R,

Riding K, Cuyler J, Todd W, Smith RJH. Pediatric aerodigestive foreign body

injuries are complications related to timeliness of diagnosis. Laryngoscope

107:17-20, 1997.

Smith RJH 15

116. Bent JP, Smith RJH. Intraoperative diagnosis of primary ciliary dyskinesia.

Otolaryngol Head Neck Surg 116:64-67, 1997.

117. Bent JP, Bauman NM, Smith RJH. Endoscopic repair of type IA laryngeal clefts.

Laryngoscope 107:282-286, 1997.

118. Marietta J, Mathews K, Burgess R, Moore K, Ni L, Fukushima K, Hejtmancik JF,

Smith RJH. Usher syndrome type 1C: Clinical studies and fine mapping the

disease locus. Ann Otol Rhinol Laryngol 106:123-128, 1997.

119. Coucke P, Van Camp G, Demirhan O, Kabakkaya Y, Dalemans W, Van Hauwe

P, Van Agtmael T, Smith RJH, Parving A, Bolder CHHM, Cremers CWRJ,

Willems PJ. The gene for Pendred syndrome is located between D7S501 and

D75692 in a 1.7 cM region on chromosome 7q. Genomics 40:48-54, 1997.

120. Van Camp G, Willems P, Smith RJH. Nonsyndromic hearing loss: unparalleled

heterogeneity. Am J Hum Genet 60:758-64, 1997.

121. Van Camp G, Couck PJ, Kunst D, Schatteman I, Van Velzen D, Marres H, van

Ewijk M, Declau F, Van Hauwe P, Meyers J, Kenyon J, Smith SD, Smith RJH,

Djelantik B, Cremers CWRJ, Van de Heyning PH, Willems PJ. Linkage analysis

of progressive hearing loss in five extended families maps the DFNA2 gene to a

1.25 Mb region on chromosome 1p. Genomics 41:70-74, 1997.

122. Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Van Laer

L, Smith RJH, Brown MR, Van de Heyning P, Somers T, Offeciers FE, Willems

PJ. A gene for autosomal dominant non-syndromic hearing loss (DFNA12) maps

to chromosome 11q22-24. Am J Hum Genet 60:1168-73, 1997.

123. Bauman NM, Burke DK, Smith RJH. Treatment of massive or life-threatening

hemangiomas with recombinant alpha-2a interferon. Otolaryngol Head Neck

Surg 117:99-110, 1997.

124. Carpenter KM, Graham SM, Smith RJH. Facial skeletal growth after endoscopic

sinus surgery in the piglet model. Amer J Rinol 11:211-217, 1997.

125. Maschka DA, Bauman NM, McCray PB, Hoffman HT, Karnell MP, Smith RJH. A

classification scheme for paradoxical vocal cord motion. Laryngoscope

107:1429-1435, 1997.

126. Smith RJH. Mucoepidermoid carcinoma in a 10-year-old girl. Controversies.

Head Neck 19:431-435, 1997.

127. Chen A, Wayne S, Bell A, Ramesh A, Srisailapathy CRS, Scot DA, Sheffield VC,

Van Hauwe P, Zbar RIS, Ashley J, Lovett M, Van Camp G, Smith RJH. A new

gene for autosomal recessive non-syndromic hearing loss maps to either

chromosome 3q or 19p. Am J Med Genet 71:467-471, 1997.

128. Greinwald JH, Scott DA, Marietta JR, Carmi R, Manaligod J, Ramesh A, Zbar

RIS, Kraft ML, Elbedour K, Yairi Y, Musy M, Shvorak AB, Srisailapathy CRS,

Smith RJH 16

Lovett M, Morton CC, Sheffield VC, Smith RJH. Construction of a PAC and YAC

contig encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21.

Genome Res 7:879-886, 1997.

129. Brown MR, Tomek MS, Van Lear L, Smith S, Kenyon JB, Van Camp G, Smith

RJH. A novel locus for atuosomal dominant non-syndormic hearing loss,

DFNA13, maps to chromosome 6p. Am J Hum Genet 61:924-927, 1997.

130. Fischel-Ghodsian N, Bykhovskaya Y, Taylor K, Kahen T, Cantor R, Ehrenman K,

Smith RJH, Keithley E. Temporal bone analysis of patients with presbycusis

reveals high frequency of mitochondrial mutations. Hearing Res 110:147-154,

1997.

131. Smith RJH. Endolymphatic sac obliteration for LVAS. Am J Otol 18:1, 1997.

132. Nester JC, Robinson RA, Smith RJH, Raab SS. Valued based pathology: A cost

benefit analysis of the examination of routine and non-routine tonsil and adenoid

specimens. Am J Clin Pathol 108:126-126, 1997.

133. Merritt RM, Bent JP, Smith RJH. Suprastomal granulation tissue and pediatric

tracheotomy decannulation. Laryngoscope 107:868-871, 1997.

134. Bent JP, Klippert FN, Smith RJH. Management of congenital buccopharyngeal

membrane. Cleft Palate-Craniofacial J 34:538-541, 1997.

135. Van Laer L, Van Camp G, van Zuijlen D, Green ED, Verstreken M, Schatteman I,

Van de Heyning P, Balemans W, Coucke P, Greinwald JH, Smith RJH, Huizing

E, Willems P. Refined mapping of a gene for autosomal dominant progressive

sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a

candidate gene that is expressed in the cochlea. Eur J Hum Genet 5:397-405,

1997.

136. Van Camp G, Smith RJH. The hereditary hearing loss homepage. J Audiologic

Med 6:iii-v, 1997.

137. Scott DA, Sheffield VC, Stone EM, Kraft ML, Smith RJH. Cx26 M34T Variant in a

hearing family. Nature 391:32, 1998.

138. Chen AH, Mueller RF, Prasad SD, Greinwald JH, Manaligod J, Muilenburg AC,

Van Camp G, Smith RJH. Presymptomatic diagnosis of non-syndromic hearing

loss by genotyping. Arch Otolaryngol 124:20-24, 1998.

139. Tomek MS, Brown MR, Mani SR, Ramesh A, Srisailapathy CRS, Coucke P, Zbar

RIS, Bell AM, McGuirt WT, Fukushima K, Willems PJ, Van Camp G, Smith RJH.

Localization of a gene for otosclerosis to chromosome 15q25-q26. Hum Mole

Genet 7:285-290, 1998.

140. Bent JP, Smith RJH. A case report: aerocele after tracheocutaneous fistula

closure. Inter J Ped Otorhinolaryngol 42:257-261, 1998.

Smith RJH 17

141. Higgins MJ, Day CD, Smilinich NJ, Ni L, Cooper PR, Nowk NJ, Davies C, de

Jong PJ, Hejtmancik JF, Evans GA, Smith RJH, Shows TB. Contig and transcript

maps identify candidate genes in the Usher 1C locus. Genome Res 8:57-68,

1998.

142. Smith, RJH. Hemangioma. Controversies. Head Neck 20:69-72,1998.

143. Zbar RIS, Ramesh A, Srisailapathy CRS, Fukushima K, Wayne S, Smith RJH.

Passage to India: The search for genes causing autosomal recessive

nonsyndromic hearing loss. Otolayrngol Head Neck Surg 118:333-337, 1998.

144. Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srikumari

Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van

Camp G, Smith RJH, Sheffield VC. Identification of mutations in the Connexin 26

gene that cause autosomal recessive non-syndromic hearing loss. Hum Mutation

11:387-394, 1998.

145. Connelly SM, Smith RJH. Effects of rigid plate fixation and removal: craniofacial

growth in rabbits. Arch Otolaryngol 124:444-447,1998.

146. Lench N, Markham A, Mueller R, Kelsell D, Smith RJH, Willems P, Schatteman I,

Capon H, Van de Heyning P, Van Camp G. A Moroccan family with autosomal

recessive sensorineural hearing loss caused by a mutation in the gap junction

protein gene connexin 26 (GJB2). J Med Genet 35:151-152, 1998.

147. Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I,

Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJH, Somers T,

Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ,

Willems PJ, Govaerts PJ, Van Camp G. Mutations in the human ∀-tectorin gene

cause autosomal dominant non-syndromic hearing impairment. Nature Genet

19:60-62, 1998.

148. Van Camp G, Smith RJH. The hereditary hearing loss homepage. Eur Work

Group on the Genet of Hear Imp, Info Let 4:1-3, 1998.

149. Smith RJH. Recurrent respiratory papillomatosis. Controversies. Head Neck

20:418-424, 1998.

150. Jain PK, Lalwani AK, Li XC, Singleton TL, Smith TN, Chen A, Deshmukh D,

Verma I, Smith RJH, Wilcox ER. A gene for non-syndromic sensorineural

deafness (DFNB18) maps to the chromosomal region 11p14-15.1 containing the

usher syndrome type 1C gene. Genomics 50:290-292, 1998.

149. Greinwald JH, Wayne S, Chen AH, Zbar RIS, Kraft ML, Prasad S, Ramesh A,

Coucke P, Srisailapathy CRS, Lovett M, Van Camp G, Smith RJH. Localization

of a novel gene for non-syndromic hearing loss, DFNB17, to chromosome 7q31.

Am J Med Genet 78:107-113, 1998.

150. Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stallpers C, Bolder

C, Otten B, de Vijlder JJM, Dietrich NL, Ramesh A, Srisailapathy SCR, Parving

Smith RJH 18

A, Cremers CWRJ, Willems PJ, Smith RJH, Green ED, Van Camp G. Two

frequent missense mutations in Pendred syndrome. Hum Mole Genet 7:1099-

1104, 1998.

151. Bauman NM, Wang D, Jaffe DM, Porter MP, McCulloch TM, Smith RJH, Sandler

AD. Role of substance P in the laryngeal chemoreflex. Ann Otol Laryngol Rhinol

107:575-580, 1998.

152. Van Camp G, Willems PJ, Kunst H, Marres H, Smith RJH. Recent developments

in genetic hearing impairment. J Audiologic Med 7:120-133, 1998.

153. Mankarious LA, Smith RJH. External rhinoplasty approach for extirpation and

immediate reconstruction of congenital midline nasal dermoids: long-term followup.

Ann Otol Laryngol Rhinol 107:786-790, 1998.

154. Scott DA, Greinwald JH, Marietta JR, Drury S, Swiderski RE, Vinas A, DeAngelis

MM, Carmi R, Ramesh A, Kraft ML, Elbedour K, Skworak AB, Friedman RA,

Srisailapathy CRS, Verhoeven K, Van Camp G, Lovett M, Deininger PL, Batzer

MA, Morton CC, Keats BJ, Smith RJH, Sheffield VC. Identification and mutation

analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and

dn hearing-loss-loci on human chromosome 9q and mouse chromosome 19.

Gene 215:461-469, 1998.

155. Van Laer L, Richardson G, Logan K, van Zuylen D, Verstreken M, Van de

Heyning P, McGuirt WT, Smith RJH, Huizing E, Van Camp G. Nonsyndromic

hearing impairment DFNA5 is associated with an inactivating mutation in a gene

with unknown function. Nature Genet 20:194-197, 1998.

156. Smith RJH, Schwartz C. Branchio-oto-renal syndrome. J Commun Disord

31:411-421, 1998.

157. Bent JP, Manaligod J, Smith RJH. Unilateral laryngeal dysgenesis. Otolaryngol

Head Neck Surg 119:712, 1998.

158. Manaligod J, Smith RJH. Familial laryngeal paralysis. Am J Med Genet 77:277-

80, 1998.

159. Greinwald JH, Burke DK, Bonthius DJ, Bauman NM, Smith RJH. An update on

the treatment of hemangiomas in children with interferon alfa2a. Arch Otolaryngol

125:21-27, 1999.

160. Beaty MM, Wilson JS, Smith RJH. Laryngeal motion during exercise.

Laryngoscope 109:136-139, 1999.

161. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJH.

Carrier rates in the Midwestern United States for GJB2 mutations causing

inherited deafness. JAMA 281:2211-2216, 1999.

162. Fukushima K, Kasai N, Ueki Y, Nishizaki K, Sugata K, Hirakawa S, Masuda A,

Gunduz M, Ninomiya Y, Masuda Y, Sato M, McGuirt WT, Coucke P, Van Camp

Smith RJH 19

G, Smith RJH. A gene for fluctuating, progressive autosomal dominant nonsyndromic

hearing loss, DFNA16, maps to chromosome 2q23-24.3. Am J Human

Genet 65:141-50, 1999.

163. Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D,

Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S,

McGuirt WT, Smith RJH, Cremers CWRJ, Van de Heyning P, Willems PJ, Smith

SD, Van Camp G. Mutations in the KCNQ4 gene are responsible for autosomal

dominant deafness in four DFNA2 families. Hum Mole Genet 8(7):1321-1328,

1999.

164. Coucke P, Van Hauwe P, Everett LA, Demirhan O, Kabakkaya Y, Dietrich NL,

Smith RJH, Coyle E, Reardon W, Trembath R, Willems PJ, Green ED, Van

Camp G. Identification of two mutations in the PDS gene in an inbred family with

Pendred syndrome. J Med Genet 36:475-477, 1999.

165. Van Camp, G, Kunst H, Flothmann K, McGuirt W, Wauters J, Marres H,

Verstreken M, Bespalova IN, Burmeister M, Van de Heyning PH, Smith RJH,

Willems PJ, Cremers CWRJ, Lesperance MM. A gene for autosomal dominant

hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that

does not overlap the DFNA6 locus. J Med Genet 36:532-536, 1999.

166. Friedman RA, Bykhovskaya Y, Sue CM, DiMauro S, Bradley R, Fallis-

Cunningham R, Paradies N, Pensak ML, Smith RJ, Groden J, Li XC, Fischel-

Ghodsian N. Maternally inherited deafness due to a novel genetic defect. Am J

Med Genet 84: 369-72, 1999.

167. Fransen E, Verstreken M, Verhagen WIM, Wuyts P, Huygen PLM, D’Haese P,

Robertson NG, Morton C, McGuirt W, Smith RJH, Declau F, Van de Heyning PH,

Van Camp G. High prevalence of symptoms of Meniere’s disease in three

families with a mutation in the COCH gene. Hum Mole Genet 8(8):1425-29,

1999.

168. Greinwald JH, Burke DK, Sato Y, Poust RI, Kimura K, Bauman NM, Smith RJH.

The treatment of lymphangiomas in children: an update of Picibanil (OK-432)

sclerotherapy. Otolaryngol Head Neck Surg 121:381-385, 1999.

169. Dutton JM, Goss K, Khubchandani KR, Shah CD, Smith RJH, Snyder JM.

Surfactant protein A in rabbit sinus and middle ear. Ann Otol Rhinol Laryngol

108:915-924, 1999.

170. Manaligod JM, Menezes AH, Bauman NM, Smith RJH. Cervical vertebral

anomalies in patients with anomalies of the head and neck. Ann Otol Laryngol

Rhinol 108:925-933, 1999.

171. Smith RJH, Van Camp G. Non-syndromic hearing impairment: gene linkage and

cloning. Int J Pediatr Otorhinolaryngol 49(51):159-164, 1999.

172. Olney DR, Greinwald JH, Smith RJH, Bauman NM. Laryngomalacia and its

treatment. Laryngoscope 109:1770-1775, 1999.

Smith RJH 20

173. Jacobs JP, Quintessenza JA, Andrews T, Burke RP, Spektor Z, Delius R, Smith

RJH, Elliott MJ, Herberhold C. Tracheal allograft reconstruction: The North

American experience and an update on the worldwide pediatric experience. Ann

Thorac Surg 68:1043-1051, 1999.

174. McGuirt WT, Prasad SD, Griffith AJ, Kunst HPM, Green GE, Shpargel KB,

Runge C, Huybrecths C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers

CWRJ, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith

RJH. Mutations in COL11A2 cause non-syndromic hearing loss at the DFNA13

locus. Nature Genet 23:413-419, 1999.

175. Bauman NM, Smith RJH. Surgical management of laryngomalacia. Operative

Techniques - Otolaryngol - Head Neck Surg 10:253-258, 1999.

176. McGuirt WT, Smith RJH. Connexin 26 as a cause of hereditary hearing loss. Am

J Audiol 8:93-100, 1999.

177. Smith RJH, Van Camp G. Cloning genes for non-syndromal hearing loss. Br J

Audiol 33:271-278, 1999.

178. Sundstrom RA, Van Laer L, Van Camp G, Smith RJH. Autosomal recessive nonsyndromic

hearing loss. Am J Med Genet 89:123-129, 1999.

179. Van Laer L, McGuirt WT, Yang T, Smith RJH, Van Camp G. Autosomal dominant

non-syndromic hearing impairment. Am J Med Genet 89:167-174, 1999.

180. Bauer MF, Rothbauer U, Muhlenbein N, Smith RJH, Gerbitz KD, Neupert W,

Brunner M, Hofmann S. The mitochondrial TIM22 preprotein translocase is highly

conserved throughout the eukaryotic kingdom. FEBS 464:41-47, 1999.

181. Jun AI, McGuirt WT, Hinojosa R, Green GE, Fischel-Ghodsian N, Smith RJH.

Temporal bone histopathology in Connexin 26-related hearing loss.

Laryngoscope 110:269-275, 2000.

182. Weston MD, Eudy JD, Fujita T, Yao S-F, Usami S, Cremers C, Greenburg J,

Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ. Genomic structure and

identification of novel mutations in Usherin, the gene responsible for Usher

syndrome type IIa (USH2A). Am J Hum Genet 66:1199-1210, 2000.

183. Scott DA, Drury S, Sundstrom RA, Bishop J, Swiderski RE, Carmi R, Ramesh A,

Elbedour K, Srisailapathy CRS, Keats BJ, Sheffield VC, Smith RJH. Refining the

DFNB7-DFNB11 deafness interval using intragenic polymorphisms in a novel

gene, TMEM2. Gene 246:265-274, 2000.

184. Rosenfeld RM, Bhaya MH, Bower CM, Brookhouser PE, Casselbrant ML, Chan

KH, Cunningham MJ, Derkay CS, Gray SD, Manning SC, Messner AH, Smith

RJH. Impact of tympanostomy tubes on child quality of life. Arch Otolaryngol

Head Neck Surg 126:585-593, 2000.

Smith RJH 21

185. Van Camp G, Smith RJH. Maternally inherited hearing impairment. Clin Genet

57:409-414, 2000.

186. Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Marietta JR, Smith

RJH, Karniski LP, Sheffield VC. Functional differences of the PDS gene product

are associated with phenotypic variation in patients with Pendred syndrome and

nonsyndromic hearing loss (DFNB4). Hum Mole Genet 9:1709-1715, 2000.

187. Green GE, Smith RJH, Bent JP, Cohn ES. Genetic testing to identify deaf

newborns. JAMA 284:1245, 2000.

188. Verhoeven K, Fagerheim T, Prasad S, Wayne S, De Clau F, Balemans W,

Verstreken M, Schatteman I, Solem B, Van de Heyning P, Tranebjarg L, Smith

RJH, Van Camp G. Refined localization and two additional linked families for the

DFNA10 locus for non-syndromic hearing impairment. Hum Genet 107:7-11,

2000.

189. Bauman NM, Sandler AD, Bishop WP, Smith RJH. Value of pH probe testing in

pediatric patients with extraesophageal manifestations of gastroesophageal

reflux disease: a retrospective review. Ann Otol Rhinol Laryngol 109 (Suppl

184):18-24, 2000.

190. Bearer EL, Chen AF, Chen AH, Li Z, Mark H-F, Smith RJH. 2E4/Kaptin - a

candidate gene for the hearing loss loci DFNA4. Ann Hum Genet 64:189-196,

2000.

191. Astuto LM, Weston MD, Carney CA, Hoover DM, Cremers CWRJ, Wagenaar M,

Moller C, Smith RJH, Pieke-Dahl S, Greenberg J, Ramesar J, Jacobson SG,

Ayuso C, Heckenlively JR, Tamayo M, Gorin MB, Reardon W, Kimberling WJ.

Genetic heterogeneity of Usher syndrome: analysis of 151 Usher I families. Am J

Hum Genet 67:1569-74, 2000.

192. Brunger JW, Murray GS, O'Riordan M, Matthews AL, Smith RJH, Robin NH.

Parental attitudes toward genetic testing for pediatric deafness. Am J Hum Genet

67:1621-25, 2000.

193. Manaligod JM, Milam M, Hill SA, Sanders T, Skaggs J, Smith RJH. Age-related

mitochondrial DNA mutations in the human larynx. Laryngoscope 110:2123-

2128, 2000.

194. Bork JM, Peters LM, Riazuddin S, Bernsteinn SL, Ahmed ZM, Ness SL,

Polomeno R, Ramesh A, Schloss M, Srisailpathy CRS, Wayne S, Bellman S,

Desmukh D, Ahmed Z, Khan SN, Der Kaloustian VM, CindyLi X, Lalwani A,

Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJH,

Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Usher syndrome ID (USH1D)

and nonsyndromic recessive deafness DFNB12 are caused by allelic mutations

of the novel cadherin-like gene CDH23. Am J Hum Genet 68:28-37, 2001.

195. De Leenheer EMR, Kunst HPM, McGuirt WT, Prasad SD, Brown MR, Huygen

PLM, Smith RJH, Cremers CWRJ. Hearing impairment caused by a missense

Smith RJH 22

mutation in COL11A2 (DFNA13). Arch Otolaryngol 127:13-17, 2001.

196. Scott KJ, Greinwald JH, Darrow D, Smith RJH. Endobronchial tumors in children:

an uncommon clinical entity. Ann Otol Laryngol Rhinol 110:63-69, 2001.

197. Prasad S, Cucci RA, Green GE, Smith RJH. Genetic testing for hereditary

hearing loss: Connexin 26 and its allele variants. Hum Mutation 16:502-508,

2001.

198. Van Den Bogaert K, Govaerts PJ, Schatteman I, Brown MR, Caethoven G,

Offeciers FE, Somers T, Declau F, Coucke P, Van de Heyning P, Smith RJH,

Van Camp G. A second gene for otosclerosis (OTSC2) maps to chromosome

7q34-36. Am J Hum Genet 68:495-500, 2001.

199. Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S,

Tranebjarg L, Morton C, Ryan AF, Van Camp G, Smith RJH. Mutations in the

transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.

Hum Mole Genet 10:195-200, 2001.

200. Cucci RA, Prasad S, Kelley PM, Green GE, Storm K, Cohn ES, Van Camp G,

Smith RJH. The M34T allele variant of Connexin 26. Genet Testing 4:335-344,

2001.

201. Waldegger S, Moschen I, Ramirez A, Smith RJH, Ayadi H, Lang F, Kubisch C.

Cloning and characterization of SLC26A6, a novel member of the solute carrier

26 gene family. Genomics 72:43-50, 2001.

202. Kasai N, Fukushima K, Ueki Y, Prasad S, Nosakowski J, Sugata KI, Sugata A,

Nishizaki K, Meyer NC, Smith RJH. Genomic structures of SCN2A and SCN3A -

Candidate genes for deafness at the DFNA16 locus. Gene 264:113-22, 2001.

203. Campbell C, Cucci RA, Green GE, Edeal JB, Galer CE, Prasad S, Karniski LP,

Sheffield VC, Smith RJH. Pendred syndrome, DFNB4 and PDS - Identification of

eight novel mutations and phenotype-genotype correlations. Hum Mut 17:403-

11, 2001.

204. Brunger JW, Matthews AL, Smith RJH, Robin NH. Genetic testing and genetic

counseling for deafness: The future is here. Laryngoscope 111:715-19, 2001.

205. Shah ZH, Toompuu M, Hakkinen T, Rovio AT, Van Ravenswaay C, De Leenheer

EMR, Smith RJH, Cremers FPM, Cremers CWRJ, Jacobs HT. Novel codingregion

polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and

mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant

deafness families. Hum Mut 17:433-34, 2001.

206. Caldwell GM, Eddy RL, Day CD, Haley LH, Cooper PR, Sait SSJ, Hejtmancik F,

Smith RJH, Morton CC, Higgins MJ, Shows TB. Mapping of genes and

transcribed sequences in a gene rich 400-kb region on human chromosome

11p15.1p14. Cytogenet Cell Genet 92:103-107, 2001.

Smith RJH 23

207. Fransen E, Verstreken M, Bom SJH, de Kok YJM, Wuyts FL, Verhagen WIM,

Huygen PLM, Kemperman MH, McGuirt WT, Smith RJH, Van Maldergem LV,

Declau F, Lemaire F, Cremers CWRJ, Van de Heyning P, Cremers FPM. A

common ancestor for COCH - related cochleovestibular (DFNA9) patients in

Belgium and the Netherlands, all bearing the P51S mutation. J Med Genet 38:61-

5, 2001.

208. Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailapathy CRS,

Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwatrz S, Lee C, Morton CC,

Mullins RF, Ramesh A, Van Camp G, Hagemen GS, Woychik RP, Smith RJH.

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.

Hum Mole Genet 10:1709-1718, 2001.

209. Robin NH, Dietz C, Arnold JE, Smith RJH. Pediatric otolaryngologists’

knowledge and understanding of genetic testing for deafness. Arch Otolaryngol

127:937-40, 2001.

210. Manaligod JM, Skaggs J, Smith RJH. Localization of the gene for familial

laryngeal abductor paralysis to chromosome 6q16. Arch Otolaryngol 127: 913-

20, 2001.

211. Chen AH, Stephan DA, Hasson T, Fukushima K, Nelissen CM, Chen AF, June

AI, Ramesh A, Van Camp G, Smith RJH. MYO1f as a candidate gene for

Nonsyndromic deafness, DFNB15. Arch Otolaryngol 127: 921-36, 2001.

212. Smith RJH. Mutation screening for deafness: more than simply another

diagnostic test. Arch Otolaryngol 127: 941-42, 2001.

213. De Leenheer EMR, Huygen PLM, Wayne S, Smith RJH, Cremers CWRJ. The

DFNA10 phenotype. Ann Otol Rhinol Laryngol 110:861-66, 2001.

214. Liu X-Z, Blanton SH, Bitner-Glindzicz, Pandya A, Landa B, MacArdle B, Rajput K,

Sirimanna T, Webb BT, Ping X, Sismanis A, Smith RJH, Nance WE. Further

refinement of the Usher 1D locus at 10q21-22. Clinical Genet 60:58-62, 2001.

215. Haberlandt E, Loffler J, Hirst-Stadlmann A, Stockl B, Judmaier W, Fischer H,

Heinz-Erian P, Muller T, Utermann G, Smith RJH, Janecke AR. Split-hand/splitfoot

malformation associated with sensorineural deafness, inner and middle ear

malformation, hypotonia, congenital vertical talus, and deletion of eight

microsatellite markers in7q21.1-q21.3. J Med Genet 38:405-9, 2001.

216. Van Laer L, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad S,

Houseman M, Van de Heyning CM, Fransen E, Rowlands J, Cucci RA,

Chamberlin GP, Smith RJH, Van Camp G. A common founder for the 35delG

connexin 26 (GJB2) gene mutation in non-syndromic hearing impairment. J Med

Genet 38:515-8, 2001.

217. Holcomb JD, Jaffe DM, Greinwald JH, Bauman NM, Smith RJH. Non-traumatic

atlanto-axial rotary subluxation in the pediatric otolaryngologic patient: A report of

four cases. Ann Otol Rhinol Laryngol 110:1137-40, 2001.

Smith RJH 24

218. Hone SW, Smith RJH. Genetics of hearing impairment. Semin Neonatol 6:531-

541, 2001.

219. Vescan A, Parnes LS, Cucci RA, Smith RJH, MacNeill C. Cochlear implantation

and PDS mutations in monozygotic twins with large vestibular aqueduct

syndrome. J Otolaryngol 31:54-7, 2002.

220. Van Den Bogaert K, Govaerts PJ, De Leenheer EM, Schatteman I, Verstreken

M, Chen W, Declau F, Cremers CW, Van De Heyning PH, Offeciers FE, Somers

T, Smith RJH, Van Camp G. Otosclerosis: a genetically heterogeneous disease

involving at least three different genes. Bone 30:624-30, 2002.

221. Najmabadi H, Cucci RA, Sahebjam S, Kouchakian N, Farhadi M, Kahrizi K,

Arzhangi S, Daneshmandan N, Javan K, Smith RJH. GJB2 mutation in Iranians

with autosomal recessive non-syndromic sensorineural hearing loss. Hum Mut

19:572-4, 2002.

222. Green GE, Scott DA, McDonald JM, Teagle HFB, Tomblin BJ, Spencer LJ,

Woodworth GG, Knutson JF, Gantz BJ, Sheffield VC, Smith RJH. Performance

of Cochlear Implant Recipients with GJB2-related Deafness. Am J Med Genet

109:167-170, 2002.

223. Astuto LM, Kelley PM, Askew JW, Weston MD, Smith RJH, Alswaid AF, Al-Rakaf

M, Kimberling WJ. Searching for evidence of DFNB2. Am J Med Genet 109:291-

297, 2002.

224. Cryns K, Pfister M, Pennings RJE, Bom SJH, Flothmann K, Caethoven G,

Kremer H, Schatteman I, Kolln KA, Toth T, Kupka S, Blin N, Nurnberg P, Thiele

H, Van de Heyning PH, Reardon W, Stephens D, Cremers CWRJ, Smith RJH,

Van Camp G. Mutations in the WFS1 gene that cause low-frequency

sensorineural hearing loss are small non-inactivating mutations. Hum Genet

110:389-394, 2002.

225. Chen W, Campbell CA, Green GE, Van Den Bogaert K, Komodikis C, Manolidis

LS, Aconomou E, Kyamides Y, Christodoulou K, Faghel C, Giguère CM, Alford

RL, Manolidis S, Van Camp G, Smith RJH. Linkage of Otosclerosis to a Third

Locus on Human Chromosome 6p21.3-22.3. J Med Genet 39:473-477, 2002.

226. Bauman NM, Giguere CM, Manaligod JM, Sato Y, Burke DK, Smith RJH.

Management of Lymphatic Malformations – If, When and How. Operative

Techniques - Otolaryngol - Head Neck Surg 13:85-92, 2002.

227. Smith RJH, Robin NH. Genetic testing for deafness – GJB2 and SLC26A4 as

causes of deafness. J Com Dis 35:367-77, 2002.

228. Smith RJH. Deafness: from bench to bedside and back. Lancet 360:656-7, 2002.

229. Giguère CM, Bauman NM, Sato Y, Burke DK, Greinwald JH, Pransky S, Kelley

P, Georgeson K, Smith RJH. Treatment of lymphangiomas with Picibanil (OKSmith

RJH 25

432) sclerotherapy – A prospective multi-institutional trial. Arch Otolaryngol

128:1137-1144, 2002.

230. Poetker DM, Sandler AD, Scott DL, Smith RJH, Bauman NM. Survivin

expression in juvenile-onset recurrent respiratory papillomatosis. Ann Otol Rhinol

Laryngol 111: 957-961, 2002.

231. Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell R, Ramesh

A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith

RJH, Wilcox ER. Mutations in a novel gene TMIE, are associated with hearing

loss at the DFNB6 locus. Am J Hum Genet 71:632-6, 2002.

232. Vervoort V, Smith RJH, O’Brien J, Schroer R, Abbott A, Stevenson RE, Schwartz

CE. Genomic rearrangements of EYA1 account for a large fraction of families

with BOR syndrome. European J Hum Genet 10:757-66, 2002.

233. Giguère CM, Bauman NM, Smith RJH. New Treatment Options for

Lymphangioma in Infants and Children. Ann Otol Rhinol Laryngol 111:1066-

1075, 2002.

234. Cryns K, Thys S, Van Laer L, Oka Y, Pfister M, Van Nassauw L, Smith RJH,

Timmermans J-P, Van Camp G. The WFS1 gene, responsible for low frequency

sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of

inner ear cells. Histochem Cell Bio 119:247-256, 2003.

235. Smith RJH, Huygen PLM. Making sense of nonsyndromic deafness. Arch

Otolaryngol 129:405-410, 2003.

236. Hone SW, Smith RJH. Genetic screening for hearing loss. Clinic Otolaryngol

28:285-90, 2003.

237. Liu XL, Ouyang XM, Xia XJ, Zheng J, Pandya A, Li F, Du LL, Welch KO, Petit C,

Smith RJH, Webb BT, Yan D, Arnos KS, Corey D, Dallos P, Balkany T, Nance

WE, Chen ZY Prestin, a cochlear motor protein, is defective in non-syndromic

hearing loss. Hum Mole Genet 12:1155-62, 2003.

238. Alford RL, Friedman TB, Keats BJB, Kimberling WJ, Proud VK, Smith RJH,

Arnos KS, Korf BR, Rehm HL, Toriello HV. Early childhood hearing loss: clinical

and molecular genetics. An educational slide set of the American College of

Medical Genetics. Genet Med 5:338-341, 2003.

239. Van Laer L, Cryns K, Smith RJH, Van Camp G. Nonsyndromic hearing loss. Ear

Hear 24:275-288, 2003.

240. Chang EH, Van Camp G, Smith RJH. The role of connexins in human disease.

Ear Hear 24:314-323, 2003.

241. Van den Bogaert K, Smith RJH, Govaerts PJ, Van Camp G. Otosclerosis.

Audiolog Med 1:33-36, 2003.

Smith RJH 26

242. Green GE, Mueller RF, Cohn ES, Avraham KB, Kanaan M, Smith RJH.

Audiological manifestations and features of Connexin 26 deafness. Audiolog

Med 1:5-11, 2003.

243. Kolln KA, Smith RJH. Pendred syndrome. Audiolog Med 1:71-76, 2003.

244. Robin NH, Smith RJH, Matthews AL. Genetic testing for deafness in clinical

practice. Audiolog Med 1:89-93, 2003.

245. Cryns K, Sivakumaran TA, Van den Ouweland JMW, Pennings RJE, Cremers

CWRJ, Flothmann K, Young TL, Smith RJH, Lesperance MM, Van Camp G.

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic

hearing impairment, diabetes mellitus and psychiatric disease. Hum Mut 22:275-

87, 2003.

246. Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM,

Smith RJH, Friderici KH. Mutations in the gamma actin gene (ACTG1) cause

dominant progressive deafness (DFNA20/26). Am J Hum Genet 73:1082-91,

2003.

247. Bayazıt YA, Cable BB, Cataloluk O, Kara C, Chamberlin P, Smith RJH,

Kanlıkama M, Ozer E, Cakmak EA, Mumbuc S, Arslan A. GJB2 gene mutations

causing Familial hereditary deafness in Turkey. Int J Ped Otolaryngol 67:1331-

37, 2003.

248. Bauer PW, Geers AE, Brenner C, Moog JS, Smith RJH. The Effect of GJB2

allele variants on performance after cochlear implantation. Laryngoscope

113:2135-41, 2003.

249. Manolidis S, Alford RL, Smith RJ, Ball C, Manolidis L. Do genes that cause

otosclerosis reduce susceptibility to otitis media? Otol Neurotol 24:868-71, 2003.

250. del Castillo I, Moreno-Pelayo MA, del Castillo FJ, Brownstein Z, Marlin S, Adina

Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W,

Maciel-Guerra AT, Álvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HM,

Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJH, Van

Camp G, Abraham KB, Petit C, Moreno F. Prevalence and Evolutionary Origins

of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing Impaired

Subjects: a Multicenter Study. Am J Hum Genet 73: 1452-58, 2003.

251. Prasad S, Kölln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJH. 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, 2004.

252. Mhatre AN, Li J, Chen AF, Yost CS, Smith RJH, Kindler CH, Lalwani AK.

Genomic Structure, Cochlear Expression and Mutation Screening of TWIK-2, a

Candidate Gene for DFNA4. J Neuroscience Res 75:25-31, 2004.

Smith RJH 27

253. Snoeckx RL, Ensink RJH, Kremer H, Flothmann K, Smith RJH, Cremers CWRJ,

Van Camp G. A novel locus for autosomal dominant nonsyndromic hearing loss,

DFNA31, maps to chromosome 6p21.3. J Med Genet 41:11-13, 2004.

254. 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. A genotype-phenotype

correlation for GJB2 (connexin 26) deafness. J Med Genet 41:147-54, 2004.

255. Hildebrand MS, de Silva MG, Klockars T, Rose E, Price M, Smith RJH, McGuirt

WJ, Christopoulos H, Petit C, Dahl HM. Characterization of DRASIC in the

mouse inner ear. Hearing Res 190:149-160, 2004.

256. Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, Smith

RJ Branchio-Oto-Renal Syndrome - The Mutation Spectrum in EYA1 and Its

Phenotypic Consequences. Hum Mut 23:582-589, 2004.

257. Cable BB, Manaligod JM, Bauman NM, Smith RJH. Pediatric airway

reconstruction - principles, decision-making and outcomes at the University of

Iowa Hospitals and Clinics. Ann Otol Rhinol Laryngol 113:283-288, 2004.

258. Van Den Bogaert K, De Leenheer E, Cremers CRWJ, Lee Y, Nürnberg P,

Pennings R, Vanderstraeten K, Chen W, Smith RJH, Van Camp G. A fifth locus

for otosclerosis, OTSC5, maps to chromosome 3q22-24. J Med Genet 41:450-

453, 2004.

259. Van Laer L, Vrijens K, Thys S, Van Tendeloo VFI, Smith RJH, Van Bockstaele

DR, Timmermans J-P, Van Camp G. DFNA5: hearing impairment exon instead

of hearing impairment gene? J Med Genet 41:401-406, 2004.

260. Pusch CM, Meyer B, Kupka S, Smith RJH, Lalwani AK, Zenner HP, Blin N,

Nurnberg P, Pfister M. Refinement of the DFNA4 locus to a 1.44 Mb region in

19q13.33. J Mol Med 82:398-402, 2004.

261. Michaud A-P, Bauman NM, Burke DK, Manaligod JM, Smith RJH. Spastic

diplegia and other motor disturbances in infants receiving interferon-alpha.

Laryngoscope 114:1231-1236, 2004.

262. Smith RJH. The Clinical Application of Genetic Testing for Deafness. Am J Med

Genet 130A:8-12, 2004.

263. Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del

Castillo I, Van Camp G, Smith RJ. GJB2 – The Spectrum of Deafness-Causing

Allele Variants and Their Phenotype. Hum Mut 24:305-11, 2004.

264. 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. SIX1 mutations cause branchio-oto-renal syndrome by

Smith RJH 28

disruption of EYA1–SIX1–DNA complexes. PNAS 101:8090-8095, 2004.

265. Zhang Y, Knosp BM, Maconochie M, Friedman RA, Smith RJH. A comparative

study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal

syndrome and DFNA10. JARO 5:295-304, 2004.

266. Smith RJH. Lymphatic malformations. Lymphatic Res Biol 2:25-31, 2004.

267. Mahdieh N, Nishimura C, Ali-Madadi K, Riazalhosseini Y, Yazdan H, Arzhangi S,

Jalalvand K, Ebrahimi A, Kazemi S, Smith RJH, Najmabadi H. 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

65:506-8, 2004.

268. Brown CL, Graham SM, Griffin MC, Smith RJ, Carter KD, Nerad JA, Bauman

NM. Pediatric medial subperiosteal orbital abscess: medical management where

possible. Am J Rhinol 18:321-7, 2004.

269. Guo Y, Pilipenko V, Lim LH, Dou H, Johnson L, Srisailapathy CR, Ramesh A,

Choo DI, Smith RJ, Greinwald JH. Refining the DFNB17 interval in

consanguineous Indian families. Mol Biol Rep 31:97-105, 2004.

270. Sewell RK, Song C, Bauman NM, Smith RJH, Blanck P. Hearing loss in Union

Army veterans from 1862 to 1920. Laryngoscope 114:2147-53, 2004.

271. Leykin I, Hao K, Cheng J, Meyer N, Pollak MR, Smith RJH, Wong WH, Rosenow

C, Li C. Comparative linkage analysis and visualization of high-density

oligonucleotide SNP array data. BMC Genetics 6:7, 2005.

272. Najmabadi H, Nishimura C, Kahrizi K, Riazalhosseini Y, Malekpour M, Daneshi

A, Farhadi M, Mohseni M, Mahdieh N, Ebrahimi A, Bazazzadegan N, Naghavi A,

Avenarius M, Arzhangi S, Smith RJH. GJB2 mutations – passage through Iran.

Am J Med Genet 133A:132-137, 2005.

273. Maeda Y, Fukushima K, Kakiuchi M, Orita Y, Nishizaki K, Smith RJH. RT-PCR

analysis of Tecta, Coch, Eya4 and Strc in mouse cochlear explants. Neuroreport

16:361-365, 2005.

274. Smith RJH, Bale JF, White KR. Sensorineural hearing loss in children. Lancet

365:879-890, 2005.

275. 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.

Membranoproliferative Glomerulonephritis Type II (Dense Deposit Disease): An

Update. J Am Nephrol Soc 16: 1392-1403, 2005.

276. 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,

Smith RJH 29

Allikmets R. 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, 2005.

277. Smith RJH. Recurrent tonsillitis among twins. JAMA 293:2925-2926, 2005.

278. del Castillo FJ, Rodríguez-Ballesteros M, Álvarez A, Hutchin T, LeonardoE, 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. 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, 2005.

279. Maeda Y, Fukushima K, Nishizaki K, Smith RJH. In vitro and in vivo suppression

of GJB2 expression by RNA interference. Hum Mole Genet 14:1641-50, 2005.

280. 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.Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair

cells. Neurobiol Dis 19: 386-99, 2005.

281. Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H,

Smith RJH. Mutation of COL11A2 causes autosomal recessive non-syndromic

hearing loss at the DFNB53 locus. J Med Genet 42(10): e61, 2005.

282. Derkay CS, Smith RJH, McClay J, van Burik J-A H, Wiatrak BJ, Arnold J, Berger

B, Neefe JR. HspE7 Treatment of Pediatric Recurrent Respiratory

Papillomatosis (RRP): Final Results of an Open-Label Trial. Ann Otol Rhinol

Laryngol 114: 730-737, 2005.

283. Yang T, Pfister M, Blin N, Zenner HP, Pusch CM, Smith RJH. Genetic

heterogeneity of deafness phenotypes linked to DFNA4. Am J Med Genet 139: 9-

13, 2005.

284. Wemer RD, Lee JH, Hoffman HT, Robinson RA, Smith RJH, Case of progressive

dysplasia concomitant with intralesional cidofovir administration for recurrent

respiratory papillomatosis. Ann Otol Rhinol Laryngol 114:836-839, 2005.

285. 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, Gronskov

K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz

N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ,

Smith RJH 30

Smith RJH, Van Camp G. GJB2 mutations and degree of hearing loss: a multicenter

study. Am J Hum Genet 77:945-958, 2005.

286. Robin NH, Prucka SK, Woolley AL, Smith RJ. The use of genetic testing in the

evaluation of hearing impairment in a child. Curr Opin Pediatr 17:709-12, 2005.

287. Lee JH, Smith RJ. Recurrent respiratory papillomatosis: pathogenesis to

treatment. Curr Opin Otolaryngol Head Neck Surg 13:354-9, 2005.

288. Vore AP, Chang EH, Hoppe JE, Butler MG, Forrester S, Schneider MC, Smith

LLH, Burke DW, Campbell CA, Smith RJH. A Deletion of and Novel Missense

Mutation in POU3F4 in Two Families Segregating X-Linked Non-Syndromic

Deafness. Arch Otolarygol 131:1057-1063, 2005.

289. Knoll C, Smith RJH, Shores, C, Blatt J. Hearing Genes and Cisplatin Deafness: a

Pilot Study. Laryngoscope 116:72-75, 2006.

290. Kiss PJ, Knisz J, Zhang Y, Baltrusaitis J, Sigmund CD, Thalmann R, Smith RJH,

Verpy E, Banfi B. Inactivation of NAPDH oxidase organizer 1 results in severe

imbalance. Current Biol 16:208-213, 2006.

291. Excoffon KJDA, Avenarius MR, Hansen MR, Kimberling WJ, Najmabadi H, Smith

RJH, Zabner J. The coxsackievirus and adenovirus receptor: A new adhesion

protein in cochlear development. Hearing Research 215(1-2):1-9, 2006.

292. Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG,

Brashears SM, Starr A, Cohn ES, Smith RJH, Kimberling WJ. OTOF mutations

revealed by genetic analysis of hearing loss families including a potential

temperature sensitive auditory neuropathy allele J Med Genet43:576-581, 2006.

293. 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. 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, 2006.

294. Khanna G, Sato Y, Smith RJ, Bauman NM, Nerad J. Causes of facial swelling in

pediatric patients: correlation of clinical and radiologic findings. Radiographics

26:157-71, 2006.

295. Goudy S, Lott D, Canady J, Smith RJ. Conductive hearing loss and otopathology

in cleft palate patients. Otolaryngol Head Neck Surg. 134(6):946-8, 2006.

296. Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Mohseni M,

Mojahedi F, Daneshi A, Najmabadi H, Smith RJH Sensorineural Deafness and

Male Infertility – A Contiguous Gene Deletion Syndrome. J Med Genet [Epub

ahead of print Nov 10, 2006] 44:233-40, 2007.

297. Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N,

Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CR,

Smith RJH 31

Smith RJ, Petersen MB, Van Camp G. A seventh locus for otosclerosis, OTSC7,

maps to chromosome 6q13-16.1. Eur J Hum Genet 2007 Jan 10; [Epub ahead of

print]; 15:362-368, 2007.

298. 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. Mutations of the RDX gene cause nonsyndromic hearing loss at the

DFNB24 locus. Hum Mut 2007 Jan 16; [Epub ahead of print]; 28:417-423, 2007.

299. Hildebrand MS, de Silva MG, Klockars T, Campbell CA, Smith RJH, Dahl HH

Gene expression profiling analysis of the inner ear. Hearing Res 2007 Jan 17;

[Epub ahead of print], 225:1-10, 2007.

300. Kochhar A, Fischer SM, Kimberling WJ, Smith RJH. Branchio-oto-renal

syndrome. Am J Med Genet 2007 Jan 19; [Epub ahead of print], 143A:1671-

1678, 2007.

301. 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. The Transcription Factor SIX5 is Mutated in Patients with

Branchio-Oto-Renal Syndrome. Am J Hum Genet 2007 Jan 25; [Epub ahead of

print]; 80:800-804, 2007.

302. Duncan RD, Prucka S, Wiatrak BJ, Smith RJH, Robin NH. Pediatric

otolaryngologists’ use of genetic testing. Arch Otolaryngol 133:231-37, 2007.

303. Chen W, Meyer NC, McKenna MJ, Pfister M, McBride DJ, Fukushima K, Thys M,

Camp GV, Smith RJH. Single-nucleotide polymorphisms in the COL1A1

regulatory regions are associated with otosclerosis. Clin Genet 71:406-414,

2007.

304. 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. 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, 2007.

305. Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerbäck S, Smith

RJH. Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and

Non-syndromic Enlargement of Vestibular Aqueduct (DFNB4). Am J Hum Genet

2007 Mar 15; [Epub ahead of print]; 80:1055-63, 2007.

306. Maeda Y, Fukushima K, Nishizaki K, Smith RJH. Cochlear expression of a

dominant-negative GJB2R75W construct delivered through the round window

membrane in mice. J Neurosci Res 2007 Mar 24 ; [Epub ahead of print].

307. Skerka C, Lauer N, Weinberger AWA, Keilhauer CN, Smith RJH, Schlötzer–

Schrehardt U, Heinen S, Hartmann A, Weber BFH, Zipfel PE. Defective

complement control of FHL-1 and Factor H (Y402H) in age-related macular

Smith RJH 32

degeneration. Mol Immunol 2007 Mar 29; [Epub ahead of print]; 44:3398-3406,

2007.

308. Abrera-Abeleda MA, Xu Y, Pickering MC, Smith RJH, Sethi S. Mesangial

immune complex glomerulonephritis due to complement factor D deficiency.

Kidney Inter Apr 4; [Epub ahead of print] 71:1142-1147, 2007.

309. Van Laer L, Meyer NC, Malekpour M, Riazalhosseini Y, Moghannibashi M,

Kahrizi K, Vandevelde A, Alasti F, Najmabadi H, Van Camp G, Smith RJH. A

novel DFNA5 mutation does not cause hearing loss in an Iranian family. J Hum

Genet 2007 Apr 11; [Epub ahead of print]; 52:549-552, 2007.

310. 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.

Identification of three novel TECTA mutations in Iranian families with autosomal

recessive non-syndromic hearing impairment at the DFNB21 locus. Am J Med

Gen 2007 Apr 12; [Epub ahead of print], 143A:1623-1630, 2007.

311. Brookes JT, Smith MC, Smith RJH, Bauman NM, Manaligod JM, Sandler AD. Htype

congenital tracheoesophageal fistula: University of Iowa experience 1985-

2005. Ann Otol Rhinol Laryngol 116:363-368, 2007.

312. Hildebrand MS, Coman D, Yang T, Gardner RJ, Rose E, Smith RJH, Bahlo M,

Dahl H-H M. DFNA10 hearing loss due to a novel splice site mutation in EYA4.

Am J Med Gen 2007 Jun 13; [Epub ahead of print], 143A:1599-1605, 2007.

313. Azaiez H, Smith RJH. Temporal bone imaging in GJB2 deafness. Laryngoscope

117:1127, 2007.

314. Meyer NC, Nishimura CJ, McMordie S, Smith RJH. Audioprofiling identifies

TECTA and GJB2-related deafness segregating in a single extended pedigree.

Clin Genet 72:130-37, 2007.

315. 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. The coding polymorphism T263I in TGF-β1 is associated

with otosclerosis in two independent population. Hum Mole Genet 2007 Jun 22;

[Epub ahead of print].

316. Kochhar A, Hildebrand MS, Smith RJH. Clinical Aspects of Hereditary Hearing

Loss. Genet Med 9:393-409, 2007.

317. Kahrizi K, Malekpour M, Nishimura C, Reazalhosseini Y, Smith RJ, Najmabadi H.

Phenotypic Implications and Genotypic Clues of GJB2-Related Deafness.

Clinical Genetics 2007 (In press).

318. Smith RJH, Alexander J, Barlow PN, Botto M, Casavant TL, Cook HT, de

Cordoba 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,

Smith RJH 33

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].

319. 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 Molecular characterization of a novel X-linked syndrome involving

developmental delay and deafness Am J Med Gen 2007 (In press).

320. 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).

321. 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).

322. 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).

323. Woodson E, Smith RJH. Bilateral pneumolabyrinth diagnostic for otic capsule

fractures without high-resolution imaging. Otolaryngol-Head Neck Surg (In

press).

Chapters

1. Smith RJH. Hearing Impairment. In: Health & Medical Horizons. New York:

MacMillan, 1985:108-121.

2. Smith RJH. The Medical Diagnosis and Treatment of Hearing Loss in Children.

In: Cummings CW, Fredrickson JM, Harker LA, Krause CJ, Schuller DE, eds:

Otolaryngol Head Neck Surg. St. Louis, Toronto: CV Mosby, 1986: 3225-3247.

3. Smith RJH. Non-Neoplastic Diseases of the Salivary Glands. In: English GM,

eds. Otolaryngology, 1990.

4. Smith RJH. Laryngeal Stenosis; Laryngeal Trauma; Laryngeal Papilloma;

Laryngeal Hemangioma; Laryngeal Neoplasm. In: Oski FA, DeAngelis C, Feigin

RD, Warshaw JB, eds. Principles and Practice of Pediatrics. Philadelphia: JB

Lippincott, 1989:1350-59.

5. Smith RJH, Katz CD. Neuroblastoma of the Head and Neck. In: Pochedly C, ed:

Neuroblastoma: Tumor Biology & Treatment. RC Press 1990: 245-256.

Smith RJH 34

6. Frankenthaler R, Goepfert H, Smith RJH. Thyroid Cancer in Children. In: Falk

SA, ed: Thyroid Disease: Endocrine, Surgery, Nuclear Medicine Radiotherapy.

New York: Rave Press, 1990:553-563.

7. Ayyagari R, Smith RJH, Lee EC, Kimberling WJ, Jay M, Bird A, Hejtmancik JF.

Heterogeneity of Usher Syndrome Type I. In: Anderson RE, Hollyfield JG, LaVail

MM, Orzalesi N, eds: Applications. Plenum Pub Corp, 1993:127-133.

8. Bauman NM, Smith RJH. Laryngeal Stenosis; Laryngeal Trauma; Laryngeal

Papilloma; Laryngeal Hemangioma; Laryngeal Neoplasm. In: Oski FA,

DeAngelis C, Feigin RD, Warshaw JB, eds: Principles and Practice of Pediatrics.

Philadelphia: JB Lippincott Co, 1994: 1477-1487.

9. Bauman NM, Smith RJH. Diseases of the Labyrinthine Capsule. In: Bluestone

C, Stool S, Kenna M; eds: Pediatric Otolaryngology. W.B. Saunders Co,

1995:677-687.

10. Angeli S, Smith RJH. Hereditary Hearing Impairment. In: Ballenger JJ, Snow J,

Jr.; eds: Diseases of the Nose, Throat, Ear, Head and Neck 15th edition.

Williams & Wilkins, 1996:1075-1087.

11. Bauman N, Smith RJH. Xeroderma Pigmentosa and Basal Cell Nevus

Syndrome. In: Weber R, Miller M, Goepfert H; eds: Basal and Squamous Cell

Skin Cancers of the Head and Neck. Williams & Wilkins, Baltimore, 1995:37-47.

12. Smith RJH. Laryngotracheoplasty (Chpt. 223). In: Bailey B, Calhoun K, Coffey

A, Neely JG, eds: Atlas of Head and Neck Surgery. Lippincott-Raven Publishers,

Philadelphia, 1996:584-585.

13. Smith RJH. Posterior Cricoid Grafting (Chpt. 224). In: Bailey B, Calhoun K,

Coffey A, Neely JG, eds: Atlas of Head and Neck Surgery. Lippincott-Raven

Publishers, Philadelphia, 1996:586-590.

14. Smith RJH. Choanal Atresia Repair-Transnasal (Chpt. 276). In: Bailey B,

Calhoun K, Coffey A, Neely JG, eds: Atlas of Head and Neck Surgery.

Lippincott-Raven Publishers, Philadelphia, 1996:714-715.

15. Smith RJH. Choanal Atresia Repair-Transpalatal (Chpt. 277). In: Bailey B,

Calhoun K, Coffey A, Neely JG, eds: Atlas of Head and Neck Surgery.

Lippincott-Raven Publishers, Philadelphia, 1996:716-720.

16. Smith RJH, Kimberling WJ. Branchio-Oto-Renal Syndrome (Chpt. 19). In:

Martini A, Read A, Stephens D, eds: Genetics and Hearing Impairment. Whurr

Publishers, London, England, 1996:180-185.

17. Kimberling WJ, Smith RJH. Usher Syndrome (Chpt. 14). In: Martini A, Read A,

Stephens D, eds: Genetics and Hearing Impairment. Whurr Publishers, London,

England, 1996:141-146.

Smith RJH 35

18. Bauman NM, Smith RJH. Recurrent Respiratory Papillomatosis. Pediatr Clin N

America 43(6):1385-1402, 1996.

19. Ayyagari R, Li A, Nestorowicz A, Li Y, Smith RJH, Permutt MA, Hejtmancik JF.

Usher Syndrome Type 1C: Localization to chromosome 11p14 and construction

of a YAC contig. In: La Vail: Degenerative Retinal Diseases. Plenum Press, New

York, 1997: 303-312.

20. Smith RJH, Ramesh A, Srisailapathy CRS, Fukushima K, Wayne S, Chen A, Van

Laer L, Ashley J, Zbar RIS, Lovett M, Van Camp G. Homozygosity mapping

applied to hereditary hearing impairment - localizing recessive deafness genes

(Chpt. 13). In: Stephens D, Read A, Martini A (eds): Developments in Genetic

Hearing Impairment. Whurr Publishers, 1998:77-90.

21. Smith RJH, Scott DA, Sheffield VC, Van Camp G. DFNB1, GeneClinics

(http://www.geneclinics.org/), 1998-2000.

22. Smith RJH, Scott DA, Sheffield VC, Van Camp G. DFNA3, GeneClinics

(http://www.geneclinics.org/), 1998-2000.

23. Smith RJH, Everett LA, Green ED, Scott DA, Sheffield VC, Van Camp G, Van

Hauwe P. Pendred syndrome. GeneClinics http://www.geneclinics.org/), 1998-

2000.

24. Green G, Smith RJH. Hereditary Hearing Loss and Deafness. GeneClinics

(http://www.geneclinics.org/), 1998-2000.

25. Green G, Prasad SD, Smith RJH. Branchio-Oto-Renal Syndrome. GeneClinics

(http://www.geneclinics.org/), 1998-2000.

26. Greinwald JH, Smith RJH. Hereditary Hearing Impairment. In Gates G, ed:

Current Therapy in Otolaryngology - Head & Neck Surgery. St. Louis: Mosby-

Year Book, Inc., 1998:34-40.

27. Bent JP, Smith RJH. The Cleft Palate Ear. In: Grundfast K, Lalwani A, eds:

Pediatric Otology/Neurotology. Philadelphia: J.B. Lippincott, 1998:627-634.

28. Smith RJH, Robinson RA. Head and Neck Malignancies in Children. In:

Cummings CW, Fredrickson JM, Harker LA, Krause CJ, Schuller DE, Richardson

M, eds: Otolaryngology - Head and Neck Surgery. St. Louis, Toronto: CV Mosby,

1998:(5) 229-247.

29. Smith RJH. Nasopharyngeal Stenosis and Velopharyngeal Insufficiency. ABO

Recertification Study Guide American Academy of Otolaryngology–Head and

Neck Surgery Foundation, 1998.

30. Manaligod JM, Smith RJH. The Syndromal Child. In: Bailey BJ. Head & Neck

Surgery - Otolaryngology. Lippincott-Raven, 1998:1259-1274.

Smith RJH 36

31. Smith RJH, Van Camp G. Non-syndromic hearing impairment - gene linkage and

cloning. In: Ruben RJ, Karma P, eds: Advances in Pediatric otorhinolaryngology

CD-ROM. Elsevier Science, 1999.

32. Smith RJH, Greinwald JH. Laryngeal Stenosis; Laryngeal Trauma; Laryngeal

Papilloma; Laryngeal Hemangioma; Laryngeal Neoplasm. In: Oski FA, DeAngelis

C, Feigin RD, Warshaw JB, eds: Principles and Practice of Pediatrics.

Philadelphia: JB Lippincott Co, 1999:1230-1240.

33. Green GE, Bauman NM, Smith RJH. Pathogenesis and Treatment of Juvenile-

Onset Recurrent Respiratory Papillomatosis. Otolaryngol Clin N America,

33(1):187-207, 2000.

34. Bent JP, Hebert RL, Smith RJH. Pediatric Neck Neoplasms. In: Wetmore R,

Muntz, McGill T, eds: Pediatric Otolaryngology: Principles and Practice

Pathways. Thieme Publishers, New York, 2000:993-1019.

35. Hegarty JL, Smith RJH. Tinnitus in Children. In: Tyler R. Tinnitus Handbook.

Singular Publishing, 2000:243-262.

36. McGuirt WT, Lesperance MM, Wilcox ER, Chen AH, Van Camp G, Smith RJH.

Characterization of Autosomal Dominant Non-Syndromic Hearing Loss Loci:

DFNA 4, 6, 10 and 13. In: Kitamura K, Steel KP, eds: Advances in Oto-Rhino-

Laryngology. S. Karger Ag, Basel, 2000:84-96.

37. Van Camp G, Coucke PJ, Van Hauwe P, Van Laer L, Verhoeven K, Wuyts F,

Smith RJH. DFNA 2, 4, 8, 12. In: Kitamura K, Steel KP, eds: Advances in Oto-

Rhino-Laryngology. S.Karger Ag, Basel, 2000:68-77.

38. Fukushima K, Ueki Y, Smith RJH. Homozygosity Mapping to Localize Genes

Causing Autosomal Recessive Non-Syndromic Hearing Loss. In: Kitamura K,

Steel KP, eds: Advances in Oto-Rhino-Laryngology. S.Karger Ag, Basel,

2000:152-157.

39. Chen AH, Fukushima K, McGuirt WT, Smith RJH. DFNB15; Autosomal

Recessive Non-Syndromic Hearing Loss Gene – Chromosome 3q, 19p or

Digenic Recessive Inheritance. In: Kitamura K, Steel KP, eds: Advances in Oto-

Rhino-Laryngology. S.Karger Ag, Basel, 2000:171-175.

40. Nichols BE, Smith RJH. Usher Syndrome. In: Weingeist T, Gold D, eds: The Eye

in Systemic Disease. Lippincott Williams & Wilkins, 2000.

41. Greinwald JH, Smith RJH. Langerhans’ Cell Histiocytosis. In: Jackler R, Driscoll

CLW, eds: Tumors of the Ear and Temporal Bone. Lippincott Williams & Wilkins,

2000:417-431.

42. Smith RJH, Van Camp G. Nonsyndromic Hereditary Hearing Loss and Deafness,

DFNB1 (GJB2). GeneClinics (http://www.geneclinics.org/), 2001.

Smith RJH 37

43. Smith RJH, Van Camp G. Nonsyndromic Hereditary Hearing Loss and Deafness,

DFNA3 (GJB2). GeneClinics (http://www.geneclinics.org/), 2001.

44. Smith RJH, Van Camp G. Pendred syndrome. GeneClinics

http://www.geneclinics.org/), 2001.

45. Smith RJH, Green GE, Van Camp G. Hereditary Hearing Loss and Deafness.

GeneClinics (http://www.geneclinics.org/), 2001.

46. Green GE, Smith RJH. Delineation of genetic components of communication

disorders. In: Gerber SE, Ed: Handbook of Genetic Communicative Disorders.

Academic Press, 2001: 12-30.

47. Smith RJH, Manaligod JM. The syndromal Child. In: Bailey BJ, ED: Head & Neck

Surgery - Otolaryngology. Lippincott Williams & Wilkins, Philadelphia, 2001:

1039-51.

48. Smith RJH. Anterior and Posterior Laryngotracheal Reconstruction. In: Bailey

B, Calhoun K, Coffey A, Neely JG, eds: Atlas of Head and Neck Surgery, 2nd

Edition. Lippincott Williams & Wilkins, Philadelphia, 2001: 622-26.

49. Smith RJH. Posterior Glottic Split with Cartilage Graft. In: Bailey B, Calhoun K,

Coffey A, Neely JG, eds: Atlas of Head and Neck Surgery, 2nd Edition. Lippincott

Williams & Wilkins, Philadelphia, 2001: 620-22.

50. Smith RJH. Transnasal Repair of Choanal Atresia. In: Bailey B, Calhoun K,

Coffey A, Neely JG, eds: Atlas of Head and Neck Surgery, 2nd Edition. Lippincott

Williams & Wilkins, Philadelphia, 2001: 756-8.

51. Smith RJH. Transpalatal Repair of Choanal Atresia. In: Bailey B, Calhoun K,

Coffey A, Neely JG, eds: Atlas of Head and Neck Surgery, 2nd Edition. Lippincott

Williams & Wilkins, Philadelphia, 2001: 758-62.

52. Green GE, Smith RJH. Congenital Hearing Loss. In: Alper, Myers, Eibling, Eds:

Decision Making in Ear, Nose, and Throat Disorders. Harcourt Health Sciences.

W.B. Saunders, Philadelphia. 2001: 8-12.

53. Tyler RS, Smith RJH. Management of Tinnitus in Children. In: Newton V, ed:

Paediatric Audiological Medicine. Whurr Publishers LTD. 2002: 405-422.

54. Smith RJH, Hone SW. Hereditary Hearing Impairment. In: Ballenger JJ, Snow

J, Jr.; eds: Diseases of the Nose, Throat, Ear, Head and Neck 16th edition.

Williams & Wilkins. 2002: 324-344.

55. Hone SW, Smith RJH. Understanding inner ear physiology at the molecular level.

In: Cremers CWRJ, Smith RJH, eds. Genetic Hearing Impairment – Its Clinical

Presentations. Basel, Karger, 2002:1-11.

56. De Leenheer EMR, Huygen PLM, Wayne S, Verstreken M, Declau F, Van Camp

G, Van de Heyning PH, Smith RJH, Cremers CWRJ. DFNA10/EYA4 – the

Smith RJH 38

clinical picture. In: Cremers CWRJ, Smith RJH, eds: Genetic Hearing

Impairment. Adv Otorhinolarygngol. Basel, Karger, 2002:73-78.

57. De Leenheer EMR, McGuirt WT, Kunst HPM, Huygen PLM, Smith RJH, Cremers

CWRJ. The phenotype of DFNA13/COL11A2. In: Cremers CWRJ, Smith RJH,

eds: Genetic Hearing Impairment. Adv Otorhinolarygngol. Basel, Karger,

2002:85-91.

58. McGuirt WT, Prasad SD, Cucci RA, Green GE, Smith RJH. Clinical Presentation

of DFNB1. In: Cremers CWRJ, Smith RJH, eds: Genetic Hearing Impairment.

Adv Otorhinolarygngol. Basel, Karger, 2002:113-119.

59. Hone SW, Smith RJH. Medical Evaluation of Pediatric Hearing Loss: Laboratory,

Radiographic and Genetic Testing. Otolaryngol Clin N America, 2002:35(4):751-

765.

60. Smith RJH, Giguère C, Bauman NM. Diseases of the Labyrinthine Capsule. In:

Bluestone C, Stool S, Alper C, Arjmand E, Casselbrandt M, Dohar J, Yellon R,

eds: Pediatric Otolaryngology. W.B. Saunders Co., 2003:817-828.

61. Green GE, Bauman NM, Smith RJH. Juvenile-onset recurrent respiratory

papillomatosis. In: Ossoff R, Shapshay S, Woodson G, Netterville JL, eds: The

Larynx. Lippincott Williams & Wilkins, 2003.

62. Smith RJH, Hone SW. Genetic Screening for Deafness. Pediatr Clin N America,

2003: 50(2):315-329.

63. Smith RJH, Van Camp G. Pendred Syndrome. In: /GeneReviews /at GeneTests:

Medical Genetics Information Resource [database online]. Copyright, University

of Washington, Seattle. 1997-2004. Available at www.genetests.org

<http://www.geneclinics.org/>.

64. Smith RJH, Green GE, Van Camp G. Hereditary Hearing Loss and Deafness. In:

/GeneReviews /at GeneTests: Medical Genetics Information Resource [database

online]. Copyright, University of Washington, Seattle. At www.genetests.org

<http://www.geneclinics.org/>. July 15, 2004.

65. Smith RJH, Van Camp G. Nonsyndromic Hereditary Hearing Loss and Deafness,

DFNB1. In: /GeneReviews /at GeneTests: Medical Genetics Information

Resource [database online]. Copyright, University of Washington, Seattle. At

www.genetests.org <http://www.geneclinics.org/>. July 15, 2004.

66. McGuirt WT, Van Camp G, Smith RJH. COL11A2 and DFNA13. In: Willems P;

ed: Genetic Hearing Loss, Marcel Dekker Inc, NY, 2004.

67. Wayne S, De Leenheer E, Cremers CWR, Smith RJH. DFNA10 and Eyes Absent

4. In: Willems P; ed: Genetic Hearing Loss, Marcel Dekker Inc, NY, 2004.

Smith RJH 39

68. Van Den Bogaert K, Smith RJH, Van Camp G. Otosclerosis. In: Willems P; ed:

Genetic Hearing Loss, Marcel Dekker Inc, NY, 2004.

69. Smith RJH, Van Camp G. Nonsyndromic Hereditary Hearing Loss and Deafness,

DFNB1 (GJB2). In: /GeneReviews /at GeneTests: Medical Genetics Information

Resource [database online]. Copyright, University of Washington, Seattle. At

www.genetests.org <http://www.geneclinics.org/> 2005.

70. Smith RJH, Van Camp G. Nonsyndromic Hereditary Hearing Loss and Deafness,

DFNA3 (GJB2). In: /GeneReviews /at GeneTests: Medical Genetics Information

Resource [database online]. Copyright, University of Washington, Seattle. At

www.genetests.org <http://www.geneclinics.org/> 2005.

71. Smith RJH, Van Camp G. Hereditary Hearing Loss and Deafness. In:

/GeneReviews /at GeneTests: Medical Genetics Information Resource [database

online]. Copyright, University of Washington, Seattle. At www.genetests.org

<http://www.geneclinics.org/> 2005.

72. Smith RJH, Cable BB. Laryngeal Disorders. In: McMillan, Feigin, DeAngelis,

Jones, eds: Oski’s Pediatrics: Principles and Practice. Philadelphia: JB Lippincott

Co, 2005:1411-1421.

73. Smith RJH. Branchio-Oto-Renal Syndrome. In: /GeneReviews /at GeneTests:

Medical Genetics Information Resource [database online]. Copyright, University

of Washington, Seattle. At www.genetests.org <http://www.geneclinics.org/>

2005.

74. Zipfel P, Smith RJH, Heinen S. The role of complement in

membranoproliferative glomerulonephritis. In: Zipfel, ed: Complement and Kidney

Disease, Birkhauser, Germany, 2005:199-221.

75. Smith RJH, Van Camp G. Deafness. In: Leonard, Bagg, Caliendo, Kaul, Van

Deerlin, eds: Molecular Pathology in Clinical Practice, Springer, 2006:125-133.

76. Smith RJH, Van Camp G. Pendred Syndrome/DFNB4. In: /GeneReviews /at GeneTests:

Medical Genetics Information Resource [database online]. Copyright, University of

Washington, Seattle. 2004-2006. Available at www.genetests.org

<http://www.geneclinics.org/>.

77. Masaki K, Freeman DM, Richardson G, Smith RJH. Measuring the material properties

of normal and mutant tectorial membranes. Auditory Mechanisms: Processes and

Models, 2006 (In press).

78. Smith RJH, Sethi S, Zipfel PF. Dense Deposit Disease / Membranoproliferative

Glomerulonephritis Type II. In: /GeneReviews /at GeneTests: Medical Genetics

Information Resource [database online]. Copyright, University of Washington,

Seattle. At www.genetests.org <http://www.geneclinics.org/> 2007.

Smith RJH 40

Pamphlets

1. Smith RJH. Academy Pamphlet: Second-Hand Smoke. ASPO and AAO-HNS,

1992.

Books/Manuals

1. Tribby R, Fagan C, Conrad C, Leick N, Shalla A, Smith RJH. Tracheostomy

Care for Infants and Children. University of Iowa Hospitals and Clinics, 1992.

2. Cremers CWRJ, Smith RJH eds. Genetic Hearing Impairment – Its Clinical

Presentations. Karger Publishers, Basel, Switzerland, 2002.

3. Pagon RA, Editor-in-chief; Cassidy SB; Bird TC; Feldman GL; Smith Richard JH;

Dolan CR; Associate editors; Baskin PK, Technical editor. GeneReviews. Seattle

(WA): University of Washington Press;1993-2005.

CDs

1. Bent JP, Smith RJH. Endoscopic sinus surgery. University of Iowa, 1995.

2. Alford RL, Friedman TB, Keats BJB, Kimberling WJ, Proud VK, Smith RJH,

Arnos KS, Korf BR, Rehm HL, Toriello HV. Early childhood hearing loss: clinical

and molecular genetics. An educational slide set of the American College of

Medical Genetics, 2003.

B. Grants Received

Federal

1. (a) NIH: Molecular Genetics, DNA Linkage Study of Usher Syndrome; USPHS

Grant No. RR-05425; PI : RJH Smith; (b) 40% effort, no salary; (c)

7/1/87-6/30/88; Direct costs: $10,000 over 1 year

2. (a) NIDCD: Auditory Processing in Hearing Impaired Children; R29DC00421; PI:

Susan Jerger; (b) 5% effort, no salary; (c) 4/1/89-3/31/94; (d) Direct costs:

$60,000 per year

3. (a) NIDCD: A collaborative study of Usher syndrome type I; R01 DC02046; PI:

RJH Smith; (b) 20% salary; (c) 7/1/93-6/30/97; (d) Direct costs: $476,673

4. (a) NIDCD: Non-Syndromic Hearing Loss - A Collaborative Study; R01 DC02842;

PI: RJH Smith; (b) 30% effort, 30% salary; (c) 7/1/96-6/30/00; (d) Direct costs:

$1,076,674

Smith RJH 41

5. (a) Institutional National Research Service Award (T32 DC00040): Research

Training Program for Otolaryngology; Co-Director: RJH Smith; (b) 7/1/98-6/30/03;

6. (a) NIDCD: Statement of Work: Support for Hereditary Hearing Loss Homepage -

RJH Smith; (b) No salary; (c) 3 years, 1998-2000; (d) $3400.00/year.

7. (a) NIDCD: Autosomal Dominant Non-Syndromic Hearing Loss; R01 DC03544;

PI: RJH Smith; (b) 30% effort, 30% salary; (c) 7/1/98-6/30/02; (d) Direct costs:

$923,261

8. (a) NIDCD: Non-Syndromic Hearing Loss - A Collaborative Study; RO1 DC02842

(competitive renewal); PI: RJH Smith; (b) 30% effort, 30% salary; (c) 7/1/00 -

6/30/04; (d) Direct costs: $1,284,216

9. (a) FD-R-001774-01: OK-432 Sclerotherapy, A Multicenter Trial; PI: RJH Smith;

(b) No salary; (c) 10/1/00-9/30/05; (d) Total costs: $727,982

10. (a) NIDCD: Autosomal Dominant Non-Syndromic Hearing Loss; Administrative

Supplement for Targeted Mouse Mutants; R01 DC03544; PI: RJH Smith; (b)

8/01/01-7/31/02; (c) Direct costs: $33,745

11. (a) NIDCD: Otosclerosis - A Molecular Genetic Study; R01DC05218; PI: RJH

Smith; (b) 20% effort, 20% salary; (c) 5/1/02-4/30/07; (d) Direct costs:

$1,250,000

12. (a) NIDCD: Autosomal Dominant Non-Syndromic Hearing Loss; R01 DC03544;

PI: RJH Smith; (b) 20% effort, 20% salary; (c) 7/1/02-6/30/07; (d) Direct costs:

$1,687,824

13. (a) NIDCD: Non-Syndromic Hearing Loss - A Collaborative Study; R01 DC02842

(competitive renewal); PI: RJH Smith; (b) 30% effort, 30% salary; (c) 7/1/04 -

6/30/09; (d) Direct costs: $1,837,782

14. (a) NIDDK: Membranoproliferative Glomerulonephritis Type II Workshop; R13

DK071183-01; PI: RJH Smith; (b) 8/14/04; (c) Direct costs: $5,000

15. (a) NIDDK: Second International Membranoproliferative Glomerulonephritis Type

II Focus Group; 1 R13 DK077416-01; PI: RJH Smith; (b) 8/01/06-7/31/07; (c)

Direct costs: $10,000

16. (a) NIDDK: A Collaborative Study of Membranoproliferative Glomerulonephritis Type

II; 1 R01 DK074409; PI: RJH Smith; (b) 8/01/2007-7/31/2112; (c) Direct costs:

$1,125,000

College of Medicine

Smith RJH 42

1. (a) Carver Trust: Headbobber Transgenic Mouse Mutant; PI: RJH Smith; (b) 5%

effort, no salary; (c) 1/1/92-12/31/93; (d) Direct costs: $7,500

2. (a) Educational Development Grant: Development of a CD-ROM Instructional

Course on Pediatric Sinusitis; PI: JP Bent; RJH Smith; (b) 5% effort, no salary; (c)

1/1/95-12/31/95; (d) Direct costs: $5,000

3. (a) Process Improvement Grant Proposal: Myringotomy +/- Adenoidectomy; PI:

RJH Smith; (b) 1% effort, no salary; (c) 7/1/95-12/31/95; (d) Direct costs: $6,240

Other

1. (a) Deafness Research Foundation: Usher Syndrome - A DNA Linkage Study; PI:

RJH Smith; (b) 40% effort, no salary; (c) 1/01/88-12/31/90; (d) Direct costs:

$45,000 over 3 years

2. (a) Hoffmann-La Roche: Therapy of Massive Capillary Hemangioma and

Lymphangioma with Recombinant Human Interferon Alpha-2A; PI: RJH Smith;

(b) 5% effort, no salary; (c) 1/1/91-6/30/93; (d) Direct costs: $12,500 over 18

months

3. (a) The National Retinitis Pigmentosa Foundation, Inc.: A Molecular Genetic

Study of Usher Syndrome; PI: RJH Smith; (b) 40% effort, no salary; (c)

9/1/90-8/31/93; (d) Direct costs: $223,077 over 3 years

4. (a) Children's Miracle Network Telethon: Clinical Applications of Otoacoustic

Emissions; PI: RJH Smith; (b) 5% effort, no salary; (c) 1/1/92-12/31/92; (d)

Direct costs: $7,500

5. (a) The National Retinitis Pigmentosa Foundation, Inc.: A Molecular Genetic

Study of Usher Syndrome; PI: RJH Smith; (b) 20% effort, no salary; (c) 9/1/93-

8/31/94; (d) Direct costs: $30,000

6. (a) Children’s Miracle Network Telethon: Esophago-Laryngeal Adductor Reflex;

PI: NM Bauman; Co PI: RJH Smith; (b) No salary (c) 1/1/95 - 12/31/95; (d)

Direct costs: $7,200

7. (a) Daiichi Pharmaceutical Corporation: Ofloxacin Otic Solution in the Treatment

of Purulent Otorrhea in Adolescent and Adult Patients with Chronic Perforation of

Tympanic Membranes; PI: RJH Smith; (b) 5% effort, no salary; (c) 5/5/95-

11/5/95; (d) Direct costs: $21,600

8. (a) Daiichi Pharmaceutical Corporation: A Multicenter, Prospective with Historical

and Current Practice Control, Open-Label Study to Examine the Safety and

Efficacy of Ofloxacin Otic Solution in the Treatment of Acute Purulent Otorrhea;

PI: RJH Smith; (b) 5% effort, no salary; (c) 5/5/95-11/5/95; (d) Direct costs:

$18,000

9. (a) Obermann Center for Advanced Studies Spelman Rockefeller (CASSPR)

grant: HLA Typing in Pediatric Patients with Recurrent Respiratory

Smith RJH 43

Papillomatosis; PIs: NM Bauman, RJH Smith; (b) No salary (c) 7/1/96-6/30/97;

(d) Direct costs: $5,000

10. (a) Children’s Miracle Network Telethon: Pediatric Laryngoscopes; PIs: NM

11. (a) American Otological Society: Otosclerosis - A Molecular Genetic Study; PI:

RJH Smith; (b) No salary (c) 7/1/98-6/30/99; (d) Direct costs: $40,000

12. (a) Chugai Pharmaceutical Corporation: OK-432 in the Treatment of

Lymphangiomas; PI: RJH Smith; (b) No salary; (c) 4/1/99-3/31/04; (d) Direct

costs: $150,000

13. (a) US PHS-CDC: Establishment of National Registry for Pediatric Patients with

Recurrent Respiratory Papillomatosis Disease; PI: RJH Smith; (b) No salary; (c)

7/17/00-6/30/01; (d) $1,380.

14. (a) Stressgen Biotechnologies: Pediatric Recurrent Respiratory Papillomatosis

(RRP) Clinical Trial, SGN-00101-0005; Co-I: RJH Smith; (b) No salary; (c) 7/01-

6/03; (d) $35,000.

15. (a) SN Fund (private foundation): The Role of RCA Genes in MPGN II; PI RJH

Smith; (b) No salary; (c) 9/1/05-6/30/07; (d) Direct costs: $40,000

16. (a) Chugai Pharmaceutical Corporation: OK-432 Immunotherapy in the

Treatment of Lymphatic Malformations; PI: RJH Smith; (b) No salary; (c) 9/1/05-

8/31/08; (d) Direct costs: $150,000

17. (a) O’Brien Kidney Research Center Pilot and Feasibility Grant: Factor H, the

Glomerular Basement Membrane and MPGN Type II; PI: RJH Smith; (b) No

salary; (c) 6/1/06-5/31/07; (d) Direct costs: $30,000

C. Grants (KO8s) Mentored

1. Jose Manaligod, MD – KO8

2. John Greinwald, MD – KO8

D. 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

Smith RJH 44

IV. SERVICE

A. Professional Activities

National

1986-88 Task Force on New Materials: American Academy Otolaryngology-Head and

Neck Surgery and the American Board of Otolaryngology

1989-95 Home Study Course: American Academy of Otolaryngology - Head and Neck

Surgery and the American Board of Otolaryngology (Chairman, 1994-95)

1992-94 Program Chair: American Society of Pediatric Otolaryngology

1994-98 Secretary: American Society of Pediatric Otolaryngology

1998-99 President-Elect: American Society of Pediatric Otolaryngology

1999-00 President: American Society of Pediatric Otolaryngology

Local

1986-90 Texas Children's Hospital Surgery Preparation Task Force

1987-90 Deputy Chief, Department of Otolaryngology, Harris County Hospital District

Medical Staff

1988-90 Houston School for the Deaf Medical Advisory Board

Editorial Responsibilities

Editor

2004- Editor, Annals of Otology, Laryngology, & Rhinology

Associate Editor

2003- Associate Editor, Gene Tests, Gene Clinics

Past Editor/Associate Editor Responsibilities

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

Editorial Boards

1990-2001 Editorial Board, Head and Neck

1990-2001 Editorial Board, Otolaryngology-Head and Neck Surgery

1997-2003 Editorial Board, Annals of Otology, Laryngology, & Rhinology

1997- Editorial Board, American Journal of Otology/Otology-Neurotology

1997- Editorial Board, Archives of Otolaryngology-Head and Neck Surgery

1998- Editorial Board, International Journal of Pediatric Otorhinolaryngology

1999- Editorial Board, Acta Oto-Laryngologica

2003- Editorial Board, Audiological Medicine

2003- Editorial Board, American Journal of Medical Genetics

Journal Peer Review Board

1984- Head and Neck

Smith RJH 45

1987- Otolaryngology-Head and Neck Surgery

1988 Neurofibromatosis

1989- American Journal of Medical Genetics

1991- Ear and Hearing

1991- Annals of Otology, Rhinology and Laryngology

1992- Genomics

1992- Archives of Otolaryngology

1994- Human Molecular Genetics

1994- American Journal of Human Genetics

1996- Nature Genetics

1996- The Journal of Pediatrics

1996- Clinical Genetics

1996- European Journal of Human Genetics

1997- Journal of the American Medical Association

1998- Nature

1998- Lancet

1998- Genome Research

2000- Human Mutation

2001- New England Journal of Medicine

Collegiate, University and National Committees

University

1991- Medical Records Subcommittee

1993- ACS Committee

1993- Clinic Operations Committee

1996- Children’s Hospital of Iowa Advisory Subcommittee

1997 PA/ARNP Credentials Committee (Chair)

1997 College of Medicine Research Advisory Committee

State

1983-85 Texas Department of Health: Children's Speech, Hearing and Language

Screening Advisory Committee

1984-89 Baylor College of Medicine Admissions Committee

1986-90 St. Luke's Episcopal Hospital: Medical Education, Publication and Research

Committee

1986-90 Texas Children's Hospital Infections Committee

1987-90 Harris County Hospital District Accreditation Committee

1987-90 Harris County Hospital District Outpatient and Emergency Center Committee

1987-90 Harris County Hospital District Utilization Review Committee

1989-90 Baylor College of Medicine Curriculum Committee

1989-90 Baylor College of Medicine Student Financial Aid Committee

1989-90 Baylor College of Medicine Student Promotions and Academic Achievement

Committee

1991 University of Iowa Medical Records Subcommittee

1992 Iowa Newborn Audiology Committee

1993 University of Iowa Ambulatory Surgery Committee

1994 University of Iowa Clinical Management Committee

1994 State of Iowa Committee on Deaf-Blind Screening

Smith RJH 46

1994 State of Iowa Committee on Infant Hearing Screening

National

1989- Audit Committee, American Society of Pediatric Otolaryngology

1990- National Advisory Committee for the Center for Hearing Loss in Children

1993-94 American Society of Pediatric Otolaryngology Program Chairman

1994-95 American Society of Pediatric Otolaryngology Program Chairman

1994-95 Home Study Course Chairman

1995-96 Organizing Committee, Association for Research in Otolaryngology

1995-98 Deafness Research Foundation Scientific Review Committee

1995-99 Long Range Planning Committee, Association for Research in Otolaryngology

1995- International Human Frontier Science Program, Review Committee

1995- Multi-Disciplinary Task Force on Recurrent Respiratory Papillomas

1995- NIDCD-Hearing Research Study Section (Ad hoc)

1996- Scope of Knowledge Task Force, American Board of Otolaryngology

1996- Pediatric Otolaryngology Committee - AAO-HNS, Inc.

1997- NIDCD R23 Special Emphasis Panel, Chair

1998- NIDCD PO1 Special Emphasis Panel, Chair

1997 NIDCD Working Group Co-Chair, Considerations for Developing and

Implementing Genetic Diagnostic Tents for Hereditary Hearing Impairment and

Other Communication Disorders

1998 Board of Scientific Counselors of the National Institute on Deafness and Other

Communication Disorders

Hospital Affiliations

1983-90 Harris County Hospital District, Houston, Texas, Member, Active Staff,

Otolaryngology Service

1983-90 St. Luke's Episcopal Hospital, Houston, Texas, Member, Active Staff,

Otolaryngology Service

1983-90 The Methodist Hospital, Houston, Texas, Member, Courtesy Staff,

Otolaryngology Service

1983-90 Texas Children's Hospital, Houston, Texas, Member, Active Staff, Otolaryngology

Service

1983-90 Veteran's Administration Medical Center, Attending Physician, Otolaryngology

Service, Texas, Crippled Children's Services Program

1983-90 Memorial Medical Center, Corpus Christi, Texas, Member, Academic Staff

1984-90 Texas Crippled Children's Services Program

1991- The University of Iowa Hospitals and Clinics, Professor, Department of

Otolaryngology-Head and Neck Surgery

Administrative Responsibilities

1987-90 Deputy Chief, Harris County Hospital District (Ben Taub General Hospital,

Jefferson Davis Hospital)

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

Professional Affiliations

Smith RJH 47

1982 American Medical Association

1982-90 Texas Medical Association

1982-90 Harris County Medical Society

1982 American Academy of Otolaryngology - Head and Neck Surgery

1982 Deafness Research Foundation

1984 American Association for the History of Medicine

1984 International Society for the History of Otolaryngology

1984-90 Houston Pediatric Society

1985-90 Houston Otolaryngological Society

1985 American Society for Pediatric Otolaryngology (Charter Member)

1985 Society of University Otolaryngologists - Head and Neck Surgeons

1986 Texas Association of Otolaryngology - Head and Neck Surgery

1986 American Academy of Facial Plastic and Reconstructive Surgery

1987 Fellow, American College of Surgeons

1987 Fellow, American Academy of Pediatrics

1987 American Society of Human Genetics

1989 The American Laryngological, Rhinological and Otological Society (The

Triological Society)

1991 Iowa Medical Society

1991 Johnson County Medical Society

1992 Research Association in Otolaryngology

1992 Brian F. McCabe Otorhinolaryngology Society

1992 Iowa Academy of Otolaryngology

B. Clinical Activities

Surgery Performed 1 day/week

Clinic Patients seen 1 day/week