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Items: 1 to 50 of 223

1.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR.

Genet Med. 2019 Nov 8. doi: 10.1038/s41436-019-0685-9. [Epub ahead of print]

PMID:
31700164
2.

Genome sequencing-the dawn of a game-changing era.

van Heyningen V.

Heredity (Edinb). 2019 Jul;123(1):58-66. doi: 10.1038/s41437-019-0226-y. Epub 2019 Jun 12. Review.

PMID:
31189904
3.

Professor Sue Povey (1942-2019). Former Editor-in-Chief of the Annals of Human Genetics, died January 11th 2019.

Swallow D, van Heyningen V.

Ann Hum Genet. 2019 May;83(3):192-193. doi: 10.1111/ahg.12313. Epub 2019 Mar 25. No abstract available.

PMID:
30908597
4.

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

Silva RS, Arno G, Cipriani V, Pontikos N, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL, Dhaenens CM, Jensen H, Rosenberg T, van Heyningen V, Moore AT, Puech B, Webster AR.

Hum Mutat. 2019 May;40(5):578-587. doi: 10.1002/humu.23715. Epub 2019 Feb 14.

PMID:
30710461
5.

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M, Rutka K, Puech B, Michaelides M, van Heyningen V, Lace B, Webster AR, Moore AT.

Sci Rep. 2017 Aug 8;7(1):7512. doi: 10.1038/s41598-017-06387-6.

6.

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

Cipriani V, Kalhoro A, Arno G, Silva RS, Pontikos N, Puech V, McClements ME, Hunt DM, van Heyningen V, Michaelides M, Webster AR, Moore AT, Puech B.

Ophthalmic Genet. 2017 Dec;38(6):511-519. doi: 10.1080/13816810.2017.1289544. Epub 2017 Mar 2.

PMID:
28635424
7.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. No abstract available.

PMID:
28546579
8.

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

Rainger J, Williamson KA, Soares DC, Truch J, Kurian D, Gillessen-Kaesbach G, Seawright A, Prendergast J, Halachev M, Wheeler A, McTeir L, Gill AC, van Heyningen V, Davey MG; UK10K, FitzPatrick DR.

Hum Mutat. 2017 Aug;38(8):942-946. doi: 10.1002/humu.23246. Epub 2017 Jun 6.

9.

KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability.

Yeyati PL, Schiller R, Mali G, Kasioulis I, Kawamura A, Adams IR, Playfoot C, Gilbert N, van Heyningen V, Wills J, von Kriegsheim A, Finch A, Sakai J, Schofield CJ, Jackson IJ, Mill P.

J Cell Biol. 2017 Apr 3;216(4):999-1013. doi: 10.1083/jcb.201607032. Epub 2017 Feb 28.

10.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Erratum in: Nat Genet. 2017 May 26;49(6):969.

11.

Clinical utility gene card for: Aniridia.

Richardson R, Hingorani M, Van Heyningen V, Gregory-Evans C, Moosajee M.

Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.73. Epub 2016 Jul 6. No abstract available.

12.

PAX6, brain structure and function in human adults: advanced MRI in aniridia.

Yogarajah M, Matarin M, Vollmar C, Thompson PJ, Duncan JS, Symms M, Moore AT, Liu J, Thom M, van Heyningen V, Sisodiya SM.

Ann Clin Transl Neurol. 2016 Apr 12;3(5):314-30. doi: 10.1002/acn3.297. eCollection 2016 May.

13.

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR.

PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016.

14.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study, van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR.

Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21.

15.

Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish.

Bhatia S, Gordon CT, Foster RG, Melin L, Abadie V, Baujat G, Vazquez MP, Amiel J, Lyonnet S, van Heyningen V, Kleinjan DA.

PLoS Genet. 2015 Jun 1;11(6):e1005193. doi: 10.1371/journal.pgen.1005193. eCollection 2015 Jun. Erratum in: PLoS Genet. 2015 Oct;11(10):e1005572.

16.

Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome.

Naville M, Ishibashi M, Ferg M, Bengani H, Rinkwitz S, Krecsmarik M, Hawkins TA, Wilson SW, Manning E, Chilamakuri CS, Wilson DI, Louis A, Lucy Raymond F, Rastegar S, Strähle U, Lenhard B, Bally-Cuif L, van Heyningen V, FitzPatrick DR, Becker TS, Roest Crollius H.

Nat Commun. 2015 Apr 24;6:6904. doi: 10.1038/ncomms7904.

17.

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.

Gordon CT, Attanasio C, Bhatia S, Benko S, Ansari M, Tan TY, Munnich A, Pennacchio LA, Abadie V, Temple IK, Goldenberg A, van Heyningen V, Amiel J, FitzPatrick D, Kleinjan DA, Visel A, Lyonnet S.

Hum Mutat. 2014 Aug;35(8):1011-20. doi: 10.1002/humu.22606.

18.

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A; UK10K; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR.

Am J Hum Genet. 2014 Jun 5;94(6):915-23. doi: 10.1016/j.ajhg.2014.05.005.

19.

Kdm3a lysine demethylase is an Hsp90 client required for cytoskeletal rearrangements during spermatogenesis.

Kasioulis I, Syred HM, Tate P, Finch A, Shaw J, Seawright A, Fuszard M, Botting CH, Shirran S, Adams IR, Jackson IJ, van Heyningen V, Yeyati PL.

Mol Biol Cell. 2014 Apr;25(8):1216-33. doi: 10.1091/mbc.E13-08-0471. Epub 2014 Feb 19.

20.

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.

Gerth-Kahlert C, Williamson K, Ansari M, Rainger JK, Hingst V, Zimmermann T, Tech S, Guthoff RF, van Heyningen V, Fitzpatrick DR.

Mol Genet Genomic Med. 2013 May;1(1):15-31. doi: 10.1002/mgg3.2. Epub 2013 Mar 27.

21.

Pleiotropic effects of Sox2 during the development of the zebrafish epithalamus.

Pavlou S, Astell K, Kasioulis I, Gakovic M, Baldock R, van Heyningen V, Coutinho P.

PLoS One. 2014 Jan 31;9(1):e87546. doi: 10.1371/journal.pone.0087546. eCollection 2014.

22.

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A, Aldridge KV, Rainger JK, Anderson CA, Moore AT, Hurles ME, Clarke A, van Heyningen V, Verloes A, Taylor MS, Wilkie AO; UK10K Consortium, Fitzpatrick DR.

Am J Hum Genet. 2014 Feb 6;94(2):295-302. doi: 10.1016/j.ajhg.2014.01.001. Epub 2014 Jan 23.

23.

A survey of ancient conserved non-coding elements in the PAX6 locus reveals a landscape of interdigitated cis-regulatory archipelagos.

Bhatia S, Monahan J, Ravi V, Gautier P, Murdoch E, Brenner S, van Heyningen V, Venkatesh B, Kleinjan DA.

Dev Biol. 2014 Mar 15;387(2):214-28. doi: 10.1016/j.ydbio.2014.01.007. Epub 2014 Jan 17.

24.

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.

Bhatia S, Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, Kleinjan DA.

Am J Hum Genet. 2013 Dec 5;93(6):1126-34. doi: 10.1016/j.ajhg.2013.10.028. Epub 2013 Nov 27. Review.

25.

Regulation from a distance: long-range control of gene expression in development and disease.

van Heyningen V, Bickmore W.

Philos Trans R Soc Lond B Biol Sci. 2013 May 6;368(1620):20120372. doi: 10.1098/rstb.2012.0372. Print 2013. No abstract available.

26.

Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences.

Ravi V, Bhatia S, Gautier P, Loosli F, Tay BH, Tay A, Murdoch E, Coutinho P, van Heyningen V, Brenner S, Venkatesh B, Kleinjan DA.

PLoS Genet. 2013;9(1):e1003177. doi: 10.1371/journal.pgen.1003177. Epub 2013 Jan 24.

27.

The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreas.

Hart AW, Mella S, Mendrychowski J, van Heyningen V, Kleinjan DA.

PLoS One. 2013;8(1):e54173. doi: 10.1371/journal.pone.0054173. Epub 2013 Jan 11.

28.

Aniridia.

Hingorani M, Hanson I, van Heyningen V.

Eur J Hum Genet. 2012 Oct;20(10):1011-7. doi: 10.1038/ejhg.2012.100. Epub 2012 Jun 13. Review.

29.

DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region.

McBride DJ, Buckle A, van Heyningen V, Kleinjan DA.

PLoS One. 2011;6(12):e28616. doi: 10.1371/journal.pone.0028616. Epub 2011 Dec 29.

30.

Discovery and assessment of conserved Pax6 target genes and enhancers.

Coutinho P, Pavlou S, Bhatia S, Chalmers KJ, Kleinjan DA, van Heyningen V.

Genome Res. 2011 Aug;21(8):1349-59. doi: 10.1101/gr.124115.111. Epub 2011 May 26.

31.

Clinical utility gene card for: WAGR syndrome.

Clericuzio C, Hingorani M, Crolla JA, van Heyningen V, Verloes A.

Eur J Hum Genet. 2011 Apr;19(4). doi: 10.1038/ejhg.2010.220. Epub 2011 Jan 12. No abstract available.

32.

Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.

Ragvin A, Moro E, Fredman D, Navratilova P, Drivenes Ø, Engström PG, Alonso ME, de la Calle Mustienes E, Gómez Skarmeta JL, Tavares MJ, Casares F, Manzanares M, van Heyningen V, Molven A, Njølstad PR, Argenton F, Lenhard B, Becker TS.

Proc Natl Acad Sci U S A. 2010 Jan 12;107(2):775-80. doi: 10.1073/pnas.0911591107. Epub 2009 Dec 22. Erratum in: Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4264.

33.

Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations.

Schmidt-Sidor B, Szymańska K, Williamson K, van Heyningen V, Roszkowski T, Wierzba-Bobrowicz T, Zaremba J.

Folia Neuropathol. 2009;47(4):372-82.

34.

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.

Henderson RH, Williamson KA, Kennedy JS, Webster AR, Holder GE, Robson AG, FitzPatrick DR, van Heyningen V, Moore AT.

Mol Vis. 2009 Nov 21;15:2442-7.

35.

The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis.

Sansom SN, Griffiths DS, Faedo A, Kleinjan DJ, Ruan Y, Smith J, van Heyningen V, Rubenstein JL, Livesey FJ.

PLoS Genet. 2009 Jun;5(6):e1000511. doi: 10.1371/journal.pgen.1000511. Epub 2009 Jun 12.

36.

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

Hingorani M, Williamson KA, Moore AT, van Heyningen V.

Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2581-90. doi: 10.1167/iovs.08-2827. Epub 2009 Feb 14.

PMID:
19218613
37.

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.

Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, Bamforth S, Doschak MR, Li G, Dobbs MB, Giampietro PF, Brooks BP, Vijayalakshmi P, Sauvé Y, Abitbol M, Sundaresan P, van Heyningen V, Pourquié O, Underhill TM, Waskiewicz AJ, Lehmann OJ.

Hum Mol Genet. 2009 Mar 15;18(6):1110-21. doi: 10.1093/hmg/ddp008. Epub 2009 Jan 6.

PMID:
19129173
38.

Incapacitating the evolutionary capacitor: Hsp90 modulation of disease.

Yeyati PL, van Heyningen V.

Curr Opin Genet Dev. 2008 Jun;18(3):264-72. doi: 10.1016/j.gde.2008.07.004. Epub 2008 Aug 28. Review.

PMID:
18662780
39.

Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis.

Chen Y, Doughman YQ, Gu S, Jarrell A, Aota S, Cvekl A, Watanabe M, Dunwoodie SL, Johnson RS, van Heyningen V, Kleinjan DA, Beebe DC, Yang YC.

Development. 2008 Sep;135(17):2939-48. doi: 10.1242/dev.021097. Epub 2008 Jul 24.

40.

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC.

Am J Hum Genet. 2008 Apr;82(4):916-26. doi: 10.1016/j.ajhg.2008.02.007. Epub 2008 Mar 27. Erratum in: Am J Hum Genet. 2008 Apr;82(4):1019.

41.

Long-range control of gene expression. Preface.

Hill RE, van Heyningen V.

Adv Genet. 2008;61:xiii-xv. doi: 10.1016/S0065-2660(07)00014-4. No abstract available.

PMID:
18282500
42.

Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence.

Kleinjan DA, Bancewicz RM, Gautier P, Dahm R, Schonthaler HB, Damante G, Seawright A, Hever AM, Yeyati PL, van Heyningen V, Coutinho P.

PLoS Genet. 2008 Feb;4(2):e29. doi: 10.1371/journal.pgen.0040029.

43.

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Robinson DO, Howarth RJ, Williamson KA, van Heyningen V, Beal SJ, Crolla JA.

Am J Med Genet A. 2008 Mar 1;146A(5):558-69. doi: 10.1002/ajmg.a.32209.

PMID:
18241071
44.

PAX6 mutations may be associated with high myopia.

Hewitt AW, Kearns LS, Jamieson RV, Williamson KA, van Heyningen V, Mackey DA.

Ophthalmic Genet. 2007 Sep;28(3):179-82.

PMID:
17896318
45.

Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion.

van Heyningen V, Hoovers JM, de Kraker J, Crolla JA.

J Med Genet. 2007 Dec;44(12):787-90. Epub 2007 Jul 14.

46.

Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations.

Bamiou DE, Free SL, Sisodiya SM, Chong WK, Musiek F, Williamson KA, van Heyningen V, Moore AT, Gadian D, Luxon LM.

Arch Pediatr Adolesc Med. 2007 May;161(5):463-9.

PMID:
17485622
47.

Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation.

Bamiou DE, Campbell NG, Musiek FE, Taylor R, Chong WK, Moore A, van Heyningen V, Free S, Sisodiya S, Luxon LM.

Int J Audiol. 2007 Apr;46(4):196-202.

PMID:
17454233
48.

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

Henderson RA, Williamson K, Cumming S, Clarke MP, Lynch SA, Hanson IM, FitzPatrick DR, Sisodiya S, van Heyningen V.

Eur J Hum Genet. 2007 Aug;15(8):898-901. Epub 2007 Apr 4.

49.

Hsp90 selectively modulates phenotype in vertebrate development.

Yeyati PL, Bancewicz RM, Maule J, van Heyningen V.

PLoS Genet. 2007 Mar 30;3(3):e43. Epub 2007 Feb 8.

50.

GDF6, a novel locus for a spectrum of ocular developmental anomalies.

Asai-Coakwell M, French CR, Berry KM, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz AJ, Lehmann OJ.

Am J Hum Genet. 2007 Feb;80(2):306-15. Epub 2006 Dec 29.

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