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  Letzte Aktualisierung
22. Juli 2016
Arbeitsgruppe Weber - Publikationen (2010 - 2015)
2015  :  2014  :  2013  :  2012  :  2011  :  2010

2015
Grassmann F, Friedrich U, Fauser S, Schick T, Milenkovic A, Schulz HL, von Strachwitz CN, Bettecken T, Lichtner P, Meitinger T, Arend N, Wolf A, Haritoglou C, Rudolph G, Chakravarthy U, Silvestri G, McKay GJ, Freitag-Wolf S, Krawczak M, Smith RT, Merriam JC, Merriam JE, Allikmets R, Heid IM, Weber BH.
A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).
Neuromolecular Med. 2015 Feb 14. [Epub ahead of print]

2014
Grassmann F, Schoenberger PG, Brandl C, Schick T, Hasler D, Meister G, Fleckenstein M, Lindner M, Helbig H, Fauser S, Weber BH.
A circulating microrna profile is associated with late-stage neovascular age-related macular degeneration.
PLoS One. 2014 Sep 9;9(9):e107461. doi: 10.1371/journal.pone.0107461. eCollection 2014.
Gliem M, Holz FG, Stöhr H, Weber BH, Charbel Issa P.
X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient.
Retina. 2014 Dec;34(12):2472-8. doi: 10.1097/IAE.0000000000000243.
Gorski M, Winkler TW, Stark K, Müller-Nurasyid M, Ried JS, Grallert H, Weber BH, Heid IM.
Harmonization of study and reference data by PhaseLift: saving time when imputing study data.
Genet Epidemiol. 2014 Jul;38(5):381-8. doi: 10.1002/gepi.21812.
Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Hum Mol Genet. 2014 Nov 1;23(21):5827-37. doi: 10.1093/hmg/ddu276.
Pilz P, Meyer-Marcotty P, Eigenthaler M, Roth H, Weber BH, Stellzig-Eisenhauer A.
Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations in the PTHR1 gene.
J Orofac Orthop. 2014 May;75(3):226-39. doi: 10.1007/s00056-014-0215-y.
Brandl C, Zimmermann SJ, Milenkovic VM, Rosendahl SM, Grassmann F, Milenkovic A, Hehr U, Federlin M, Wetzel CH, Helbig H, Weber BH.
In-depth characterisation of Retinal Pigment Epithelium (RPE) cells derived from human induced pluripotent stem cells (hiPSC).
Neuromolecular Med. 2014 Sep;16(3):551-64. doi: 10.1007/s12017-014-8308-8.
Pauly D, Nagel BM, Reinders J, Killian T, Wulf M, Ackermann S, Ehrenstein B, Zipfel PF, Skerka C, Weber BH.
A novel antibody against human properdin inhibits the alternative complement system and specifically detects properdin from blood samples.
PLoS One. 2014 May 5;9(5):e96371. doi: 10.1371/journal.pone.0096371. eCollection 2014.
Fleckenstein M, Schmitz-Valckenberg S, Lindner M, Bezatis A, Becker E, Fimmers R, Holz FG; Fundus Autofluorescence in Age-Related Macular Degeneration Study Group (Holz FG, Schmitz-Valckenberg S, Fleckenstein M, Gobel AP, Lindner M, Steinberg J, Wittich AB, Czauderna J, Fimmers R, Walter P, Weinberger A, Wolf S, Schnurrbusch Wolf U, Volcker HE, Mackensen F, Wiedemann P, Mossner A, Pauleikhoff D, Weber BH, von Strachwitz C).
The "diffuse-trickling" fundus autofluorescence phenotype in geographic atrophy.
Invest Ophthalmol Vis Sci. 2014 May 2;55(5):2911-20. doi: 10.1167/iovs.13-13409.
Grassmann F, Heid IM, Weber BH.
Genetic risk models in age-related macular degeneration.
Adv Exp Med Biol. 2014;801:291-300. doi: 10.1007/978-1-4614-3209-8_37.
Roth H, Fritsche LG, Meier C, Pilz P, Eigenthaler M, Meyer-Marcotty P, Stellzig-Eisenhauer A, Proff P, Kanno CM, Weber BH.
Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption.
Clin Oral Investig. 2014 Mar;18(2):377-84. doi: 10.1007/s00784-013-1014-3.
Weber BH, Charbel Issa P, Pauly D, Herrmann P, Grassmann F, Holz FG
The role of the complement system in age-related macular degeneration.
Dtsch Arztebl Int.Translocator protein (18 kDa) (TSPO) is expressed in reactive retinal microglia and modulates microglial inflammation and phagocytosis. 2014 Feb 21;111(8):133-8. doi: 10.3238/arztebl.2014.0133.
Karlstetter M, Nothdurfter C, Aslanidis A, Moeller K, Horn F, Scholz R, Neumann H, Weber BH, Rupprecht R, Langmann T.
Translocator protein (18 kDa) (TSPO) is expressed in reactive retinal microglia and modulates microglial inflammation and phagocytosis.
J Neuroinflammation. 2014 Jan 8;11:3. doi: 10.1186/1742-2094-11-3.
Gramer G, Weber BH, Gramer E.
Results of a patient-directed survey on frequency of family history of glaucoma in 2170 patients.
Invest Ophthalmol Vis Sci. 2014 Jan 13;55(1):259-64. doi: 10.1167/iovs.13-13020.

2013
Fung AT1, Stöhr H, Weber BH, Holz FG, Yannuzzi LA.
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation.
Retin Cases Brief Rep. 2013 Winter;7(1):71-4. doi: 10.1097/ICB.0b013e318267101e.
Zhan X1, Larson DE, Wang C, Koboldt DC, Sergeev YV, Fulton RS, Fulton LL, Fronick CC, Branham KE, Bragg-Gresham J, Jun G, Hu Y, Kang HM, Liu D, Othman M, Brooks M, Ratnapriya R, Boleda A, Grassmann F, von Strachwitz C, Olson LM, Buitendijk GH, Hofman A, van Duijn CM, Cipriani V, Moore AT, Shahid H, Jiang Y, Conley YP, Morgan DJ, Kim IK, Johnson MP, Cantsilieris S, Richardson AJ, Guymer RH, Luo H, Ouyang H, Licht C, Pluthero FG, Zhang MM, Zhang K, Baird PN, Blangero J, Klein ML, Farrer LA, DeAngelis MM, Weeks DE, Gorin MB, Yates JR, Klaver CC, Pericak-Vance MA, Haines JL, Weber BH, Wilson RK, Heckenlively JR, Chew EY, Stambolian D, Mardis ER, Swaroop A, Abecasis GR.
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.
Nat Genet. 2013 Nov;45(11):1375-9. doi: 10.1038/ng.2758.
Stellzig-Eisenhauer A1, Decker E, Meyer-Marcotty P, Rau C, Fiebig BS, Kress W, Saar K, Rüschendorf F, Hubner N, Grimm T, Witt E, Weber BH.
[Primary failure of eruption (PFE). Clinical and molecular genetics analysis].
Orthod Fr. 2013 Sep;84(3):241-50. doi: 10.1051/orthodfr/2013055.
Schreml S, Weber BH, Schröder J, Siegmund H, Schaller J, Vogt T, Landthaler M, Schönbuchner I, Röcken C, Babilas P.
Familial primary localized cutaneous amyloidosis with an oncostatin M receptor-ß mutation, Pro694Leu.
Clin Exp Dermatol. 2013 Dec;38(8):932-5. doi: 10.1111/ced.12160.
Couch FJ1, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A; kConFab Investigators, Radice P, Schmutzler RK; SWE-BRCA, Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M; Ontario Cancer Genetics Network, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Toland AE, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gómez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT; HEBON; EMBRACE, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A, Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A, Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C, Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L, Castera L, Gauthier-Villars M, Léoné M, Pujol P, Mazoyer S, Bignon YJ; GEMO Study Collaborators, Zlowocka-Perlowska E, Gronwald J, Lubinski J, Durda K, Jaworska K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L, Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C, Varon-Mateeva R, Wappenschmidt B, Weber BH, Arver B, Stenmark-Askmalm M, Loman N, Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S, Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB, Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H, Ejlertsen B, Nielsen FC, Jønson L, Andersen MK, Ding YC, Steele L, Foretova L, Teulé A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J, Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J, Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomäki K, Muranen TA, Duran M, Chung WK, Lasa A, Dorfling CM, Miron A; BCFR, Benitez J, Senter L, Huo D, Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Tessier D, Cunningham J, Slager SL, Wang C, Hart S, Stevens K, Simard J, Pastinen T, Pankratz VS, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC; CIMBA.
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
PLoS Genet. 2013;9(3):e1003212. doi: 10.1371/journal.pgen.1003212.
Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP Jr, Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, N Keilhauer C, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefansson H, Sturgill-Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann HE, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Léveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM, Abecasis GR; AMD Gene Consortium.
Seven new loci associated with age-related macular degeneration.
Nat Genet. 2013 Apr;45(4):433-9, 439e1-2. doi: 10.1038/ng.2578.
Keilhauer CN, Fritsche LG, Guthoff R, Haubitz I, Weber BH.
Age-related macular degeneration and coronary heart disease: evaluation of genetic and environmental associations.
Eur J Med Genet. 2013 Feb;56(2):72-9. doi: 10.1016/j.ejmg.2012.10.005.

2012
Zhour A, Bolz S, Grimm C, Willmann G, Schatz A, Weber BH, Zrenner E, Fischer MD.
In vivo imaging reveals novel aspects of retinal disease progression in Rs1h(-/Y) mice but no therapeutic effect of carbonic anhydrase inhibition.
Vet Ophthalmol. 2012 Sep;15 Suppl 2:123-33. doi: 10.1111/j.1463-5224.2012.01039.x.
Grassmann F, Fritsche LG, Keilhauer CN, Heid IM, Weber BH.
Modelling the genetic risk in age-related macular degeneration.
PLoS One. 2012;7(5):e37979. doi: 10.1371/journal.pone.0037979.
Baas DC, Ho L, Tanck MW, Fritsche LG, Merriam JE, van het Slot R, Koeleman BP, Gorgels TG, van Duijn CM, Uitterlinden AG, de Jong PT, Hofman A, ten Brink JB, Vingerling JR, Klaver CC, Dean M, Weber BH, Allikmets R, Hageman GS, Bergen AA.
Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration.
Mol Vis. 2012;18:657-74.
Molday RS, Kellner U, Weber BH.
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Prog Retin Eye Res. 2012 May;31(3):195-212. doi: 10.1016/j.preteyeres.2011.12.002.
Fritsche LG, Fleckenstein M, Fiebig BS, Schmitz-Valckenberg S, Bindewald-Wittich A, Keilhauer CN, Renner AB, Mackensen F, Mößner A, Pauleikhoff D, Adrion C, Mansmann U, Scholl HP, Holz FG, Weber BH.
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.
Invest Ophthalmol Vis Sci. 2012 Apr 30;53(4):2112-8. doi: 10.1167/iovs.11-8785.
Delgado D, del Pozo-Rodríguez A, Solinís MÁ, Avilés-Triqueros M, Weber BH, Fernández E, Gascón AR.
Dextran and protamine-based solid lipid nanoparticles as potential vectors for the treatment of X-linked juvenile retinoschisis.
Hum Gene Ther. 2012 Apr;23(4):345-55. doi: 10.1089/hum.2011.115.
Sofat R, Casas JP, Webster AR, Bird AC, Mann SS, Yates JR, Moore AT, Sepp T, Cipriani V, Bunce C, Khan JC, Shahid H, Swaroop A, Abecasis G, Branham KE, Zareparsi S, Bergen AA, Klaver CC, Baas DC, Zhang K, Chen Y, Gibbs D, Weber BH, Keilhauer CN, Fritsche LG, Lotery A, Cree AJ, Griffiths HL, Bhattacharya SS, Chen LL, Jenkins SA, Peto T, Lathrop M, Leveillard T, Gorin MB, Weeks DE, Ortube MC, Ferrell RE, Jakobsdottir J, Conley YP, Rahu M, Seland JH, Soubrane G, Topouzis F, Vioque J, Tomazzoli L, Young I, Whittaker J, Chakravarthy U, de Jong PT, Smeeth L, Fletcher A, Hingorani AD.
Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.
Int J Epidemiol. 2012 Feb;41(1):250-62. doi: 10.1093/ije/dyr204.
Kellner U, Renner AB, Herbst SM, Kellner S, Weinitz S, Weber BH.
[Article in German]
Klin Monbl Augenheilkd. 2012 Feb;229(2):171-93; quiz 194-6. doi: 10.1055/s-0031-1280461.

2011
Smailhodzic D, Fleckenstein M, Theelen T, Boon CJ, van Huet RA, van de Ven JP, Den Hollander AI, Schmitz-Valckenberg S, Hoyng CB, Weber BH, Holz FG, Klevering BJ.
Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging.
Invest Ophthalmol Vis Sci. 2011 Nov 21;52(12):8908-18. Print 2011 Nov.
Lauer N, Mihlan M, Hartmann A, Schlötzer-Schrehardt U, Keilhauer C, Scholl HP, Charbel Issa P, Holz F, Weber BH, Skerka C, Zipfel PF.
Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant.
J Immunol. 2011 Oct 15;187(8):4374-83.
McKay GJ, Patterson CC, Chakravarthy U, Dasari S, Klaver CC, Vingerling JR, Ho L, de Jong PT, Fletcher AE, Young IS, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Hingorani AD, Sofat R, Dean M, Sawitzke J, Seddon JM, Peter I, Webster AR, Moore AT, Yates JR, Cipriani V, Fritsche LG, Weber BH, Keilhauer CN, Lotery AJ, Ennis S, Klein ML, Francis PJ, Stambolian D, Orlin A, Gorin MB, Weeks DE, Kuo CL, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Wright AF, Hayward C, Baird PN, Guymer RH, Attia J, Thakkinstian A, Silvestri G.
Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.
Hum Mutat. 2011 Dec;32(12):1407-16. doi: 10.1002/humu.21577.
Milenkovic VM, Röhrl E, Weber BH, Strauß O.
Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.
J Cell Sci. 2011 Sep 1;124(Pt 17):2988-96. doi: 10.1242/jcs.085878.
Keilhauer CN, Fritsche LG, Weber BH.
Age-related macular degeneration with discordant late stage phenotypes in monozygotic twins.
Ophthalmic Genet. 2011 Nov;32(4):237-44.
Yang R, Dick M, Marme F, Schneeweiss A, Langheinz A, Hemminki K, Sutter C, Bugert P, Wappenschmidt B, Varon R, Schott S, Weber BH, Niederacher D, Arnold N, Meindl A, Bartram CR, Schmutzler RK, Müller H, Arndt V, Brenner H, Sohn C, Burwinkel B.
Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk.
Breast Cancer Res Treat. 2011 Jun;127(2):549-54.
McKay GJ, Silvestri G, Chakravarthy U, Dasari S, Fritsche LG, Weber BH, Keilhauer CN, Klein ML, Francis PJ, Klaver CC, Vingerling JR, Ho L, De Jong PT, Dean M, Sawitzke J, Baird PN, Guymer RH, Stambolian D, Orlin A, Seddon JM, Peter I, Wright AF, Hayward C, Lotery AJ, Ennis S, Gorin MB, Weeks DE, Kuo CL, Hingorani AD, Sofat R, Cipriani V, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Yates JR, Webster AR, Moore AT, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Young IS, Fletcher AE, Patterson CC.
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people.
Am J Epidemiol. 2011 Jun 15;173(12):1357-64.
Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F.
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
Eur J Hum Genet. 2011 Apr;19(4):445-51.
Friedrich U, Myers CA, Fritsche LG, Milenkovich A, Wolf A, Corbo JC, Weber BH.
Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.
Hum Mol Genet. 2011 Apr 1;20(7):1387-99.
Kraus D, Karlstetter M, Walczak Y, Hilfinger D, Langmann T, Weber BH.
Retinal expression of the X-linked juvenile retinoschisis (RS1) gene is controlled by an upstream CpG island and two opposing CRX-bound regions.
Biochim Biophys Acta. 2011 Apr-Jun;1809(4-6):245-54.
Friedrich U, Stöhr H, Hilfinger D, Loenhardt T, Schachner M, Langmann T, Weber BH.
The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.
Hum Mol Genet. 2011 Mar 15;20(6):1132-42.
Krumbiegel M, Pasutto F, Schlötzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, Weisschuh N, Paoli D, Gramer E, Becker C, Ekici AB, Weber BH, Nürnberg P, Kruse FE, Reis A.
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
Eur J Hum Genet. 2011 Feb;19(2):186-93.

2010
Fritsche LG, Lauer N, Hartmann A, Stippa S, Keilhauer CN, Oppermann M, Pandey MK, Köhl J, Zipfel PF, Weber BH, Skerka C.
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).
Hum Mol Genet. 2010 Dec 1;19(23):4694-704.
Corbo JC, Lawrence KA, Karlstetter M, Myers CA, Abdelaziz M, Dirkes W, Weigelt K, Seifert M, Benes V, Fritsche LG, Weber BH, Langmann T.
CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors.
Genome Res. 2010 Nov;20(11):1512-25.
Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A.
Apolipoprotein E genotypes in pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
J Glaucoma. 2010 Oct-Nov;19(8):561-5.
Milenkovic VM, Brockmann M, Stöhr H, Weber BH, Strauss O.
Evolution and functional divergence of the anoctamin family of membrane proteins.
BMC Evol Biol. 2010 Oct 21;10:319.
Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, Renner AB, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Weber BH, Gal A, Rivolta C.
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
Am J Hum Genet. 2010 Sep 10;87(3):376-81.
Brandl C, Kaesbauer J, Weber BH, Morsczeck C.
Spontaneous immortalization of neural crest-derived corneal progenitor cells after chromosomal aberration.
Cell Prolif. 2010 Aug;43(4):372-7.
Schroeder C, Stutzmann F, Weber BH, Riess O, Bonin M.
High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays.
Breast Cancer Res Treat. 2010 Jul;122(1):287-97.
Yang R, Schlehe B, Hemminki K, Sutter C, Bugert P, Wappenschmidt B, Volkmann J, Varon R, Weber BH, Niederacher D, Arnold N, Meindl A, Bartram CR, Schmutzler RK, Burwinkel B.
A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk.
Breast Cancer Res Treat. 2010 Jun;121(3):693-702.
Stellzig-Eisenhauer A, Decker E, Meyer-Marcotty P, Rau C, Fiebig BS, Kress W, Saar K, Rüschendorf F, Hubner N, Grimm T, Witt E, Weber BH.
Primary failure of eruption (PFE)--clinical and molecular genetics analysis.
J Orofac Orthop. 2010 Jan;71(1):6-16.
Tchatchou S, Riedel A, Lyer S, Schmutzhard J, Strobel-Freidekind O, Gronert-Sum S, Mietag C, D'Amato M, Schlehe B, Hemminki K, Sutter C, Ditsch N, Blackburn A, Hill LZ, Jerry DJ, Bugert P, Weber BH, Niederacher D, Arnold N, Varon-Mateeva R, Wappenschmidt B, Schmutzler RK, Engel C, Meindl A, Bartram CR, Mollenhauer J, Burwinkel B.
Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity.
Hum Mutat. 2010 Jan;31(1):60-6.
Pasutto F, Chavarria-Soley G, Mardin CY, Michels-Rautenstrauss K, Ingelman-Sundberg M, Fernández-Martínez L, Weber BH, Rautenstrauss B, Reis A.
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
Invest Ophthalmol Vis Sci. 2010 Jan;51(1):249-54.