Human Genetics Laboratory
Publications
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Representative Publications
- Lesperance MM, Baumgartner D, Kauffman C: Polyarticular arthritis due to Sporothrix schenckii. Mycoses 31(12): 599-603, 1988.
- Lesperance MM, Esclamado RM: Squamous cell carcinoma arising in inverted papilloma. Laryngoscope 105(2): 178-183, 1995.
- Lesperance MM, Helfert RH, Altschuler RA: Deafness induced cell size changes in rostral AVCN of the guinea pig. Hear Res 86: 77-81, 1995.
- Beck JC, McClatchey KD, Lesperance MM, Esclamado RM, Carey TE, Bradford CR: Presence of human papillomavirus predicts recurrence of inverted papilloma. Otolaryngology Head Neck Surgery 111: 49-55, 1995.
- Lesperance MM, Hall JW, Bess FH, Jain P, Ploplis B, San Agustin TB, Skarka H, RJH, Wills M, Wilcox ER: a gene for autosomal dominant nonsyndromic heredity hearing impairment maps to 4p16.3. Hum Mol Genet 4(10):1967-1972, 1995.
- Beck JC, McClatchey KD, Lesperance MM, Esclamado RM, Carey TE, Bradford CR. Human papillomavirus types important in progression of inverted papilloma. Otolaryngol Head Neck Surg 113(5):558-5, 1995.
- Lesperance MM, Grundfast KM, Rosenbaum KN. Otologic manifestations of Wolf-Hirschhorn syndrome. Archives of Otolaryngology-Head and Neck Surgery 124(2):193-6, 1998.
- Lesperance MM, Contopoulos-Ioannidis DG, Gutierrez MdP, Colberg-Poley AM. PCR detection of human cytomegalovirus DNA in clinical specimens using novel UL37 exon 3 and US3 primers. Clinical and Diagnostic Laboratory Immunology, 5(2): 256-258, 1998.
- Lesperance MM, Zalzal GH. Laryngotracheal stenosis in children. European Archives of Oto-Rhino-Laryngology, 255(1):12-17, 1998.
- Beck JC, Devaney KO, Koopmann CF, Weatherly RA, Lesperance MM. Pediatric myofibromatosis of the head and neck. Archives of Otolaryngology-Head and Neck Surgery 125(1): 39-44, 1999.
- 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 (DNFA14) maps to a region on chromosome 4p16.3 that is non overlapping with the DFNA6 locus. J Med Genet 36(7):532-6, 1999.
- Bespalova IN, Burmeister M, Lesperance MM. No association between DFNA6 and Pro250Arg mutation in FGFR3. Am J Med Genet 88(5):451, 1999.
- Linsk R, Lesperance MM, Gilsdorf J. When amoxicillin fails. Contemporary Pediatrics, 16(10): 67-90, 1999.
- Lesperance MM, Burmeister M. Interpreting Linkage Data for a Huntington-like Disorder Mapping to 4p15.3. Am J Hum Genet 67:262-3, 2000.
- Brock T, Lesperance MM. (2000) Leukotriene synthesis by epithelial cells of human mucosa-associated lymphoid tissue. Internet Jour Asthma Allergy Immunol 2(1). http://www.ispub.com/journals/IJAAI/current.htm ,2000.
- 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. Advances in Oto-Rhino-Laryngology 56:84-96, 2000.
- Barker SE, Lesperance MM, Kileny PR. Outcome of newborn hearing screening by ABR compared with four different DPOAE pass criteria. Am J of Aud 9:142-148, 2000.
- Greene CC, McMillan PM, Barker SE, Kurnool P, Lomax MI, Burmeister M, Lesperance MM. DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24. Am J Hum Genet 68:254-260, 2001.
- Hayajneh WA, Colberg-Poley AM, Skaletskaya A, Bartle LM, Lesperance MM, Contopoulos-Ioannidis DG, Kedersha NL, Goldmacher VS. The sequence and anti-apoptotic functional domains of human cytomegalovirus pUL37x1 are conserved in multiple primary strains. Virology 279:29-51, 2001.
- Lesperance MM, Schneider B, Garetz SL, Weatherly RA, Koopmann, Jr, CF. Substituting a telephone call for pediatric adenotonsillectomy postoperative visits. Arch Otolaryngol Head Neck Surg 127:227-228, 2001.
- Hayajneh WA, Contopoulos-Ioannidis DG, Lesperance MM, Venegas AM, Colberg-Poley AM. The carboxyl-terminus of the human cytomegalovirus UL37 immediate early glycoprotein is conserved in primary strains and is important for transactivation. J Gen Virology, 82:1569-1579, 2001.
- Bespalova IN, Van Camp G, Bom S, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst H, Kurnool P, Sivakumaran TA, Cremers CWRJ, Leal SM, Burmeister M, Lesperance MM. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 10(22):2501-2508, 2001.
- Kileny PR, Lesperance MM. Face-to-Face: Evidence in support of a different model of universal newborn hearing loss identification. Am Jour Audiol 10:65-67, 2001.
- Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM.< Autosomal dominant stapes ankylosis, broad thumbs, hyperopia and skeletal anomalies caused by heterozygous nonsense and frameshift mutations in the noggin gene (NOG). Am J Hum Genet 71:618-24, 2002.
- Sivakumaran, TA, Lesperance MM. A PCR-RFLP assay for the A716T mutation in the WFS1 gene, a common cause of low frequency sensorineural hearing loss. Genetic Testing 6:229-231, 2002.
- Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Gebarski SS, Lesperance MM. Characterization of a stapes ankylosis family with a NOG mutation. Otol Neurotol 24:210-215, 2003.
- Lesperance MM, Hall JW, San Agustin TB, Leal SM. Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low frequency sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 129:411-420, 2003.
- Lesperance MM, D'Errico C. Efficiency of the operating room versus the short procedure room: squeezing the balloon. Arch Otolaryngol Head Neck Surg 129:427-428 2003.
- Thirlwall AS, Brown DJ, McMillan PM, Barker, SE, Lesperance, MM. Genetic Deafness: Phenotypic analysis of DFNA25 Locus. JLO Supplement No. 29, Vol 117, July 2003.
- Thirlwall AS, Brown DJ, McMillan PM, Barker SE, Lesperance MM. Phenotypic characterization of hereditary hearing impairment linked to DFNA25. Archives Otolaryngology - Head and Neck Surgery, Vol 129 830-835, August 2003.
- Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJE, Cremers CWRJ, Flothmann K, Young T-L, Smith RJH, Lesperance MM, Van Camp G. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus and psychiatric disease. Human Mutation Vol 22:4 275-287, October 2003.
- Kim TB, Isaacson B, Sivakumaran TA, Starr A, Keats BJB and Lesperance MM. A gene responsible for sutosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21, Journal of Medical Genetics. 41:872-876, 2004.
- Sivakumaran TA, Lesperance MM. Haplotype and Linkage Disequilibrium Analysis of the CRMP1 and EVC genes. International Journal of Molecular Medicine. 14:903-907, 2004.
- Starr A, Isaacson B, Michalewski HJ, Zeng F-G, Kong Y-Y, Beale P, Paulson GW, Keats B and Lesperance MM. A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells. JARO, 5(4) 2004.
- Budenz C, Lesperance, MM, Gebarski, S. Hairy polyp of the pharynx: A rare cause of respiratory distress in the neonate. Pediatric Radiology, 35:1107-1109, 2005.
- Sisk E, Kim T, Schumacher R, Dechert R, Driver L, Ramsey A and Lesperance, MM Tracheotomy in very low birth weight neonates: indications and outcomes. Laryngoscope In press (2006).
Book Chapters
- Miller JM, Altschuler RA, Dupont J, Lesperance MM, Tucci D: Consequences of Deafness and Electrical Stimulation on the Auditory System. In: Salvi RJ, Henderson D, Fiorino F, Colletti V (eds.) Auditory System Plasticity and Regeneration. New York: Thieme, 1996, 378-391.
- Lesperance MM, Zalzal GH: Assessment and Management of Laryngotracheal Stenosis. Pediatric Clinics of North America 43(6), December 1996, 1413-27.
- 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: Kitmura K, Steel KP (eds). Advances in Oto-Rhino-Laryngology: Genetics in Otorhinolaryngology.
