Sensory and Neurologic Disorders

Recent Publications (2010 -)

Fahed AC, McDonough B, Gouvion CM, Newell KL, Dure LS, Bebin M, Bick AG, Seidman JG, Harter DH, Seidman CE.  UBQLN2 Mutations causing Heterogeneous X-linked Dominant Neurodegeneration.  Ann Neurol 2014;75(5):793-8.  PMCID: PMC4106259 [Available on 2015/5/9].

Brown KK, Viana LM, Helwig CC, Artunduaga MA, Quintanilla-Dieck L, Jarrin P, Osorno G, McDonough B, DePalma SR, Eavey RD, Seidman JG, Seidman CE. HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. Hum Mutat. 2013;34(10):1347-51. | PDF Download

Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H.  Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2.  Am J Hum Genet. 2010;86(1):65-71. PMCID: PMC2801751. | PDF Download

 


 

Prior Selected Publications (- 2009)

Bahmad, F, DePalma SR, Merchant SN, Bezerra RL, Oliveira CA, Seidman CE, Seidman JG.  Locus for Familial Migrainous Vertigo Disease Maps to Chromosome 5q35.  Ann Otol Rhinol Laryngol.  2009;118(9):670-676.  PMCID: PMC2767209.

Artunduaga MA, Quintanilla-Dieck MD, Greenway S, Betensky R, Nicolau Y, Hamdan U, Jarrin P, Osorno G, Brent B, Eavey R, Seidman C, Seidman JG.  A classic twin study of external ear malformations, including microtia. N Engl J Med 2009; 361:1216-1218.  PMCID: PMC3648865.

Wang L, Sewell WF, Kim SD, Shin JT, MacRae CA, Zon LI, Seidman, JG, Seidman, CE.  Eya4 regulation of Na+/K+-ATPase is required for sensory system development in zebrafish.  Development. 2008;135(20):3425-34.  PMID:18799547; Free full text.

Depreux, FS, Darrow K, Conner D, Eavey RD, Liberman MC, Seidman CE*, Seidman JG*.  Eya4-deficient mice are a model for heritable otitis media.  J Clin Invest. 2008 Feb;118(2):651-8.  PMCID: 2213371.

Hinson JT, Fantin V, Schonberger J, Brevik N, Siem G, McDonough B, Sharma P, Keogh I, Godhino R, Santos F, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey R, Seidman CE, Seidman JG. BCS1L missense mutationscause Bjørnstad syndrome with sensorineural deafness and pili torti. N Engl J Med. 2007 Feb 22;356(8):809-19.

Keogh IJ, Godhino RN, Wu TP, Diaz de Palacios AM, Palacios N, Bello de Alford M, De Almada MI, MacPalacios N, Vazquez A, Mattei R, Seidman CE, Seidman JG, Eavey RD.  Clinical and genetic linkage analyses of a large Venezuelan kindred with Usher Syndrome.  Int J Pediatr Otorhinolaryngol 2004; 68:1063-8.

Vasconcelos OM, Harter DH, Duffy C, McDonough B, Seidman JG, Seidman CE,  Campbell WW. Adult Hallervorden-Spatz syndrome simulating amyotrophic lateral sclerosis. Muscle & Nerve. 2003; 28(1):118-22.

Manolis EN, Eavey RD, Sanwatanaroj S, Halpin C, Rosenbaum S, Watkins H, Jarcho J, Seidman CE, Seidman JG.  Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.  Amer J Otology. 1999;20:621-626.

Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol Jr. JB, Miyamoto RT, Linthicum Jr. FH, Lubianca-Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG.  Mutations in a novel cochlear gene cause DNFA9, a human nonsyndromic deafness with vestibular dysfunction.  Nat Genet. 1998;20(3):299-303.

Lubianca-Neto JF, Lu L, Eavey RN, Flores MAM, Caldera RM, Sangwatanaroj S, Schott JJ, McDonough B, Santos JI, Seidman CE, and Seidman JG.  The Bjornstad Syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.  Amer J Hum Genet. 1998;62(5):1107-1112.

Ye C, Ho-Pao CL, Kanazirska M, Quinn S, Rogers K, Seidman CE, Seidman JG, Brown EM, Vassilev PM.  Amyloid-beta proteins activate Ca(2+)-permeable channels through calcium-sensing receptors.  J Neurosci Res. 1997;47(5):547-54.

Georgopoulos NA, Pralong FP, Seidman CE, Seidman JG, Crowley WF, Vallejo M.  Genetic Heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.  J Endocrinol Met. 1997;82(1):213-217.

Ye C, Ho-Pao CL, Kanazirska M, Quinn S, Seidman CE, Seidman JG, Brown EM, Vassilev PM. Deficient cation channel regulation in neurons from mice with targeted disruption of the extracellular Ca2+-sensing receptor gene.  Brain Research Bulletin. 1997;44(1):75-84.

Encinas JA, Lees MB, Sobel RA, Symonowicz C, Greer JM, Shovlin CL, Weiner HL, Seidman CE, Seidman JG, Kuchroo VK.  Genetic Analysis of susceptibility to experimental autoimmune encephalomyelitis in a cross between SJL/J and B10.S mice. J Immunol. 1996;157(5):2186-92.

Manolis E, Nadol JB, Eavey RD, McKenna M, Rosenbaum S, Yandavi N, Khetarpal U, Halpin C, Merchant SN, Duyk GM, MacRae C, Seidman CE, Seidman JG.  A gene for non-syndromic autosomal dominant progressive postlingual sensorineural deafness maps to chromosome 14q12-13.  Hum Mol Genet. 1996;5(7):1047-1050.

Zhang K, Bither PP, Park R, Donoso LA, Seidman JG, Seidman CE.  A hereditary macular dystrophy (Stargardt’s disease) locus maps to chromosome 13q34.  Arch Opthalmol. 1994;112:759-764.