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Items: 46


Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.


Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.

Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD.

Genet Med. 2018 Sep 24. doi: 10.1038/s41436-018-0285-0. [Epub ahead of print]


Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Shearer AE, Sloan-Heggen CM, Kolbe D, Casavant T, Schnieders MJ, Nishimura C, Braun T, Smith RJH.

Am J Hum Genet. 2018 Oct 4;103(4):484-497. doi: 10.1016/j.ajhg.2018.08.006. Epub 2018 Sep 20.


Grxcr2 is required for stereocilia morphogenesis in the cochlea.

Avenarius MR, Jung JY, Askew C, Jones SM, Hunker KL, Azaiez H, Rehman AU, Schraders M, Najmabadi H, Kremer H, Smith RJH, Géléoc GSG, Dolan DF, Raphael Y, Kohrman DC.

PLoS One. 2018 Aug 29;13(8):e0201713. doi: 10.1371/journal.pone.0201713. eCollection 2018.


Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective.

Booth KT, Azaiez H, Jahan I, Smith RJH, Fritzsch B.

Front Genet. 2018 May 8;9:156. doi: 10.3389/fgene.2018.00156. eCollection 2018. Review.


Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.

Booth KT, Kahrizi K, Najmabadi H, Azaiez H, Smith RJ.

J Med Genet. 2018 Aug;55(8):555-560. doi: 10.1136/jmedgenet-2018-105349. Epub 2018 Apr 27.


CDC14A phosphatase is essential for hearing and male fertility in mouse and human.

Imtiaz A, Belyantseva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bukhari I, Bouzid A, Shaukat U, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, Hoa M, Dong L, Morell RJ, Smith RJH, Riazuddin S, Masmoudi S, Kindt KS, Naz S, Friedman TB.

Hum Mol Genet. 2018 Mar 1;27(5):780-798. doi: 10.1093/hmg/ddx440.


Exonic mutations and exon skipping: Lessons learned from DFNA5.

Booth KT, Azaiez H, Kahrizi K, Wang D, Zhang Y, Frees K, Nishimura C, Najmabadi H, Smith RJ.

Hum Mutat. 2018 Mar;39(3):433-440. doi: 10.1002/humu.23384. Epub 2018 Jan 11.


Variants in CIB2 cause DFNB48 and not USH1J.

Booth KT, Kahrizi K, Babanejad M, Daghagh H, Bademci G, Arzhangi S, Zareabdollahi D, Duman D, El-Amraoui A, Tekin M, Najmabadi H, Azaiez H, Smith RJ.

Clin Genet. 2018 Apr;93(4):812-821. doi: 10.1111/cge.13170. Epub 2018 Feb 12.


CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.

Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbé M, Emptoz A, Lelli A, Dégardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A.

EMBO Mol Med. 2017 Dec;9(12):1711-1731. doi: 10.15252/emmm.201708087.


Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

Beheshtian M, Babanejad M, Azaiez H, Bazazzadegan N, Kolbe D, Sloan-Heggen C, Arzhangi S, Booth K, Mohseni M, Frees K, Azizi MH, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Najmabadi H.

Arch Iran Med. 2016 Oct 1;19(10):720-728. Review.


Advances in Molecular Genetics and the Molecular Biology of Deafness.

Nishio SY, Schrauwen I, Moteki H, Azaiez H.

Biomed Res Int. 2016;2016:5629093. doi: 10.1155/2016/5629093. Epub 2016 Jul 20. No abstract available.


Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.

Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI.

Ann Otol Rhinol Laryngol. 2016 Nov;125(11):918-923. Epub 2016 Jul 28.


Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

Lebeko K, Sloan-Heggen CM, Noubiap JJ, Dandara C, Kolbe DL, Ephraim SS, Booth KT, Azaiez H, Santos-Cortez RL, Leal SM, Smith RJ, Wonkam A.

Clin Genet. 2016 Sep;90(3):288-90. doi: 10.1111/cge.12799. Epub 2016 Jun 1.


Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJ.

Hum Genet. 2016 Apr;135(4):441-50. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.


Audioprofile Surfaces: The 21st Century Audiogram.

Taylor KR, Booth KT, Azaiez H, Sloan CM, Kolbe DL, Glanz EN, Shearer AE, DeLuca AP, Anand VN, Hildebrand MS, Simpson AC, Eppsteiner RW, Scheetz TE, Braun TA, Huygen PL, Smith RJ, Casavant TL.

Ann Otol Rhinol Laryngol. 2016 May;125(5):361-8. doi: 10.1177/0003489415614863. Epub 2015 Nov 3.


Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.

Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H.

J Med Genet. 2015 Dec;52(12):823-9. doi: 10.1136/jmedgenet-2015-103389. Epub 2015 Oct 7.


Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity.

Ben Halim N, Nagara M, Regnault B, Hsouna S, Lasram K, Kefi R, Azaiez H, Khemira L, Saidane R, Ammar SB, Besbes G, Weil D, Petit C, Abdelhak S, Romdhane L.

Ann Hum Genet. 2015 Nov;79(6):402-17. doi: 10.1111/ahg.12131. Epub 2015 Sep 29.


PDZD7 and hearing loss: More than just a modifier.

Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ.

Am J Med Genet A. 2015 Dec;167A(12):2957-65. doi: 10.1002/ajmg.a.37274. Epub 2015 Sep 29.


Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.

Moteki H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Nishio S, Hattori M, Usami S, Smith RJH.

Clin Genet. 2016 Apr;89(4):466-472. doi: 10.1111/cge.12677. Epub 2015 Oct 6.


High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.

Bu F, Borsa NG, Jones MB, Takanami E, Nishimura C, Hauer JJ, Azaiez H, Black-Ziegelbein EA, Meyer NC, Kolbe DL, Li Y, Frees K, Schnieders MJ, Thomas C, Nester C, Smith RJ.

J Am Soc Nephrol. 2016 Apr;27(4):1245-53. doi: 10.1681/ASN.2015040385. Epub 2015 Aug 17.


HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PL, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJ.

PLoS Genet. 2015 Mar 27;11(3):e1005137. doi: 10.1371/journal.pgen.1005137. eCollection 2015 Mar.


Mutations in LOXHD1 gene cause various types and severities of hearing loss.

Mori K, Moteki H, Kobayashi Y, Azaiez H, Booth KT, Nishio SY, Sato H, Smith RJ, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:135S-41S. doi: 10.1177/0003489415574067. Epub 2015 Mar 19.


De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.

Moteki H, Shearer AE, Izumi S, Kubota Y, Azaiez H, Booth KT, Sloan CM, Kolbe DL, Smith RJ, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:169S-76S. doi: 10.1177/0003489415575042. Epub 2015 Mar 19.


Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.

Sakuma N, Moteki H, Azaiez H, Booth KT, Takahashi M, Arai Y, Shearer AE, Sloan CM, Nishio SY, Kolbe DL, Iwasaki S, Oridate N, Smith RJ, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:184S-92S. doi: 10.1177/0003489415575041. Epub 2015 Mar 18.


Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation.

Moteki H, Azaiez H, Booth KT, Hattori M, Sato A, Sato Y, Motobayashi M, Sloan CM, Kolbe DL, Shearer AE, Smith RJ, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:177S-83S. doi: 10.1177/0003489415575045. Epub 2015 Mar 18.


USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.

Moteki H, Yoshimura H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Murata T, Smith RJ, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:123S-8S. doi: 10.1177/0003489415574070. Epub 2015 Mar 5.


Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ.

Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25.


Cordova: web-based management of genetic variation data.

Ephraim SS, Anand N, DeLuca AP, Taylor KR, Kolbe DL, Simpson AC, Azaiez H, Sloan CM, Shearer AE, Hallier AR, Casavant TL, Scheetz TE, Smith RJ, Braun TA.

Bioinformatics. 2014 Dec 1;30(23):3438-9. doi: 10.1093/bioinformatics/btu539. Epub 2014 Aug 14.


Copy number variants are a common cause of non-syndromic hearing loss.

Shearer AE, Kolbe DL, Azaiez H, Sloan CM, Frees KL, Weaver AE, Clark ET, Nishimura CJ, Black-Ziegelbein EA, Smith RJ.

Genome Med. 2014 May 22;6(5):37. doi: 10.1186/gm554. eCollection 2014.


TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ.

Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6.


High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.

Amouri A, Talmoudi F, Messaoud O, d'Enghien CD, Rekaya MB, Allegui I, Azaiez H, Kefi R, Abdelhak A, Meseddi SH, Torjemane L, Ouederni M, Mellouli F, Abid HB, Aissaoui L, Bejaoui M, Othmen TB, Lyonnet DS, Soulier J, Hachicha M, Dellagi K, Abdelhak S, Fanconi T.

Mol Genet Genomic Med. 2014 Mar;2(2):160-5. doi: 10.1002/mgg3.55. Epub 2014 Feb 5.


An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.


Consanguinity, endogamy, and genetic disorders in Tunisia.

Ben Halim N, Ben Alaya Bouafif N, Romdhane L, Kefi Ben Atig R, Chouchane I, Bouyacoub Y, Arfa I, Cherif W, Nouira S, Talmoudi F, Lasram K, Hsouna S, Ghazouani W, Azaiez H, El Matri L, Abid A, Tebib N, Ben Dridi MF, Kachboura S, Amouri A, Mokni M, Ben Arab S, Dellagi K, Abdelhak S.

J Community Genet. 2013 Apr;4(2):273-84. doi: 10.1007/s12687-012-0128-7. Epub 2012 Dec 4. No abstract available.


Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L, Kefi R, Azaiez H, Ben Halim N, Dellagi K, Abdelhak S.

Orphanet J Rare Dis. 2012 Aug 21;7:52. doi: 10.1186/1750-1172-7-52.


Adult Gaucher disease in southern Tunisia: report of three cases.

Ben Rhouma F, Kallel F, Kefi R, Cherif W, Nagara M, Azaiez H, Jedidi I, Elloumi M, Abdelhak S, Mseddi S.

Diagn Pathol. 2012 Jan 10;7:4. doi: 10.1186/1746-1596-7-4.


A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.

Ben Rekaya M, Messaoud O, Mebazaa A, Riahi O, Azaiez H, Kefi R, Zghal M, Boubaker S, Amouri A, Ben Osman-Dhahri A, Abdelhak S, Mokni M.

J Genet. 2011 Dec;90(3):483-7. No abstract available.


Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.

Messaoud O, Rekaya MB, Ouragini H, Benfadhel S, Azaiez H, Kefi R, Gouider-Khouja N, Mokhtar I, Amouri A, Boubaker MS, Zghal M, Abdelhak S.

Arch Dermatol Res. 2012 Mar;304(2):171-6. doi: 10.1007/s00403-011-1190-4. Epub 2011 Nov 12.


A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH.

Clin Genet. 2010 Sep;78(3):267-74. doi: 10.1111/j.1399-0004.2010.01387.x. Epub 2010 Mar 1.


Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.

Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJ, Kohrman DC.

Am J Hum Genet. 2010 Feb 12;86(2):148-60. doi: 10.1016/j.ajhg.2010.01.016. Epub 2010 Feb 4.


[An ovarian tumor important to diagnose].

Sassi SH, Doghri R, Slama SB, Abbes I, Driss M, Mrad K, Dhouib R, Azaiez H, Romdhane KB.

Ann Pathol. 2009 Feb;29(1):56-8. doi: 10.1016/j.annpat.2008.01.009. Epub 2009 Feb 7. French. No abstract available.


Genotype-phenotype correlations for SLC26A4-related deafness.

Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ.

Hum Genet. 2007 Dec;122(5):451-7. Epub 2007 Aug 10.


In reference to temporal bone imaging in GJB2 deafness.

Azaiez H, Smith RJ.

Laryngoscope. 2007 Jun;117(6):1127; author reply 1127-9. No abstract available.


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 DFNB1 non-syndromic hearing impairment.

del Castillo FJ, Rodríguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I.

J Med Genet. 2005 Jul;42(7):588-94. No abstract available.


GJB2: the spectrum of deafness-causing allele variants and their phenotype.

Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del Castillo I, Van Camp G, Smith RJ.

Hum Mutat. 2004 Oct;24(4):305-11.


A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G.

J Med Genet. 2004 Mar;41(3):147-54.

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