Lesperance Laboratory Publications

Representative Publications

  • Potti TA, Petty EM, Lesperance MM. A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-Symphalangism Spectrum Disorder (NOG-SSD). Hum Mutat. 2011 Apr 28. doi: 10.1002/humu.21515. [Epub ahead of print]PMID: 21538686
  • Rendtorff ND, Lodahl M, Boulahbel H, Johansen IR, Pandya A, Welch KO, Norris VW, Arnos KS, Bitner-Glindzicz M, Emery SB, Mets MB, Fagerheim T, Eriksson K, Hansen L, Bruhn H, Möller C, Lindholm S,  Ensgård S, Lesperance MM, Tranebjærg L.  Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant inherited optic atrophy and hearing loss in seven families and two sporadic cases. In press, American Journal of Medical Genetics Part A.
  • Bedoyan JK, Lesperance MM, Ackley T, Iyer RK, Innis J, Misra VK.  A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. Am J Med Genet Part A 155:154-163, Jan 2011.
  • Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM.  Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in KCNQ4.  Arch Otolaryngol Head Neck Surg 137(1):54-59, Jan 2011.
  • Mets RB, Emery SB, Lesperance MM, Mets MB.  Congenital cataracts in two siblings with Wolfram syndrome:  a newly associated finding.  Ophthalmologic Genetics 31(4):227-229, Dec 2010.
  • Schoen CJ, Emery SB, Thorne MC, Ammana HR, Śliwerska E, Arnett A, Hortsch M, Hannan F, Burmeister M, Lesperance MM.  Increased activity of DIAPH3/diaphanous causes deafness in humans with auditory neuropathy (AUNA1) and hearing defects in Drosophila.  PNAS 107(30):13396-13401, Jul 2010.
  • Emery SB, Meyer A, Miller L, Lesperance MM. Otosclerosis or Congenital Stapes Ankylosis? The Diagnostic Role of Genetic Analysis. Otol Neurotol, 30(8): 1204-8, December 30, 2009.
  • Grati FR, Lesperance MM, De Toffol S, Chinetti S, Selicomi A, Emery S, Grimi B, Dulcetti F, Malvestiti B, Taylor J, Milani S, Ruggeri AM, Maggi F, Simoni G. Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1). Am J Med Genet 149A(5): 906-13, May 2009.
  • Jensen DR, Martin DM, Gebarski S, Sahoo T, Brundage EK, Chinault AC, Otto EA, Chaki M, Hildebrandt F, Cheung SW, Lesperance MM. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomolies. Am J Med Genet 149A(3): 396-402, Mar 2009.
  • Ruel J, Emery S , Nouvian R, Bersot T, Amilhon B,,Van Rybroek JM , Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El-Mestikawy S, Moser T, Smith RJH, Lesperance MM and Puel J-L. Impairment of SLC17A8 encoding vesicular glutamate transporter-3 (VGLUT3) underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. The American Journal of Human Genetics, 83(2):278-92, August 2008.
  • Lesperance MM, Burmeister M. Commentary on �Occupational noise, smoking and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicentre study by Fransen et al., JARO 128: J Assoc Res Otolaryngol DOI 10.1007/s10162-008-0123-1, 2008.
  • Lesperance MM. The relationship between acute mastoiditis and antibiotic use for acute otitis media in children--invited commentary. Arch Otolaryngol Head Neck Surg 134:49, 2008.
  • Sharma, MR, Petty, E, Lesperance MM. Airway Obstruction in a Family with a PTEN hamartoma tumor syndrome: Bannayan-Riley-Ruvulcaba Syndrome. Arch Otolaryngol Head Neck Surg 133(11) 1157-1160, 2007.
  • Thorne, MC, Ruiz, RE, Carvalho, J, Lesperance MM. Proboscis Lateralis: Case Report and Review. Arch Otolaryngol Head Neck Surg, 133(10):1051-53, 2007.
  • Lesperance MM. �Will the Internet be Good for What Ails Us?� Wall Street Journal, October 17, 2007
  • Lesperance MM. A Pediatric Otolaryngologist Learns to Diagnose Acute Otitis Media. Arch Otolaryngol Head Neck Surg, 133(8) 745-746: 2007.
  • Sisk EA, Kim TB, Schumacher R, Dechert R, Driver L, Ramsey AM, Lesperance MM. 2006. Tracheotomy in very low birth weight neonates: indications and outcomes. Laryngoscope 116:928-33, 2006.
  • 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.
  • 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.
  • Sivakumaran TA, Lesperance MM. Haplotype and Linkage Disequilibrium Analysis of the CRMP1 and EVC genes. International Journal of Molecular Medicine. 14:903-907, 2004.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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, 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.
  • 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.
  • 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.
  • 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.
  • 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, 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Lesperance MM, Burmeister M. Interpreting Linkage Data for a Huntington-like Disorder Mapping to 4p15.3. Am J Hum Genet 67:262-3, 2000.
  • Linsk R, Lesperance MM, Gilsdorf J. When amoxicillin fails. Contemporary Pediatrics, 16(10): 67-90, 1999.
  • Bespalova IN, Burmeister M, Lesperance MM. No association between DFNA6 and Pro250Arg mutation in FGFR3. Am J Med Genet 88(5):451, 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.
  • 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.
  • Lesperance MM, Zalzal GH. Laryngotracheal stenosis in children. European Archives of Oto-Rhino-Laryngology, 255(1):12-17, 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, Grundfast KM, Rosenbaum KN. Otologic manifestations of Wolf-Hirschhorn syndrome. Archives of Otolaryngology-Head and Neck Surgery 124(2):193-6, 1998.
  • 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, 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: Presence of human papillomavirus predicts recurrence of inverted papilloma. Otolaryngology Head Neck Surgery 111: 49-55, 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.
  • Lesperance MM, Esclamado RM: Squamous cell carcinoma arising in inverted papilloma. Laryngoscope 105(2): 178-183, 1995.
  • Lesperance MM, Baumgartner D, Kauffman C: Polyarticular arthritis due to Sporothrix schenckii. Mycoses 31(12): 599-603, 1988.

Book Chapters

  • 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.
  • Lesperance MM, Zalzal GH: Assessment and Management of Laryngotracheal Stenosis. Pediatric Clinics of North America 43(6), December 1996, 1413-27.
  • 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.