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Publications 2010

Brinkmeyer,J., Mobascher,A., Warbrick,T., Musso,F., Wittsack,H.J., Saleh,A., Schnitzler,A., and Winterer,G. (2010). Dynamic EEG-informed fMRI modeling of the pain matrix using 20-ms root mean square segments. Hum Brain Mapp.[Epub ahead of print]

Budde,H., Sander,T., Wernicke,C., Muller,A., Gallinat,J., Schmidt,L.G., and Smolka,M.N. (2010). Serotonin transporter promoter polymorphism and dopaminergic sensitivity in alcoholics. J Neural Transm. 117, 133-138.

Chernin,G., Heeringa,S.F., Vega-Warner,V., Schoeb,D.S., Nurnberg,P., and Hildebrandt,F. (2010). Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome. Pediatr. Nephrol. 25, 261-266.

Cirak,S., von,D.F., Sachdev,S., Errington,W.J., Herrmann,R., Bonnemann,C., Brockmann,K., Hinderlich,S., Lindner,T.H., Steinbrecher,A., Hoffmann,K., Prive,G.G., Hannink,M., Nurnberg,P., and Voit,T. (2010). Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain. 133, 2123-2135.

Cordes,J., Thunker,J., Agelink,M.W., Arends,M., Mobascher,A., Wobrock,T., Schneider-Axmann,T., Brinkmeyer,J., Mittrach,M., Regenbrecht,G., Wolwer,W., Winterer,G., and Gaebel,W. (2010). Effects of 10 Hz repetitive transcranial magnetic stimulation (rTMS) on clinical global impression in chronic schizophrenia. Psychiatry Res. 177, 32-36.

de Kovel,C.G., Trucks,H., Helbig,I., Mefford,H.C., Baker,C., Leu,C., Kluck,C., Muhle,H., von,S.S., Ostertag,P., Obermeier,T., Kleefuss-Lie,A.A., Hallmann,K., Steffens,M., Gaus,V., Klein,K.M., Hamer,H.M., Rosenow,F., Brilstra,E.H., Trenite,D.K., Swinkels,M.E., Weber,Y.G., Unterberger,I., Zimprich,F., Urak,L., Feucht,M., Fuchs,K., Moller,R.S., Hjalgrim,H., De,J.P., Suls,A., Ruckert,I.M., Wichmann,H.E., Franke,A., Schreiber,S., Nurnberg,P., Elger,C.E., Lerche,H., Stephani,U., Koeleman,B.P., Lindhout,D., Eichler,E.E., and Sander,T. (2010). Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain. 133, 23-32.

de Kovel,C.G., Pinto,D., Tauer,U., Lorenz,S., Muhle,H., Leu,C., Neubauer,B.A., Hempelmann,A., Callenbach,P.M., Scheffer,I.E., Berkovic,S.F., Rudolf,G., Striano,P., Siren,A., Baykan,B., Sander,T., Lindhout,D., Kasteleijn-Nolst Trenite,D.G., Stephani,U., and Koeleman,B.P. (2010). Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis. Epilepsy Res. 89, 286-294.

Dutrannoy,V., Demuth,I., Baumann,U., Schindler,D., Konrat,K., Neitzel,H., Gillessen-Kaesbach,G., Radszewski,J., Rothe,S., Schellenberger,M.T., Nurnberg,G., Nurnberg,P., Teik,K.W., Nallusamy,R., Reis,A., Sperling,K., Digweed,M., and Varon,R. (2010). Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. Hum Mutat. 31, 1059-1068.

Ebermann,I., Phillips,J.B., Liebau,M.C., Koenekoop,R.K., Schermer,B., Lopez,I., Schafer,E., Roux,A.F., Dafinger,C., Bernd,A., Zrenner,E., Claustres,M., Blanco,B., Nurnberg,G., Nurnberg,P., Ruland,R., Westerfield,M., Benzing,T., and Bolz,H.J. (2010). PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest. 120, 1812-1823.

Ermakov,S., Toliat,M.R., Cohen,Z., Malkin,I., Altmuller,J., Livshits,G., and Nurnberg,P. (2010). Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population. Bone. 46, 1244-1250.

Friedrich,K., Lee,L., Leistritz,D.F., Nurnberg,G., Saha,B., Hisama,F.M., Eyman,D.K., Lessel,D., Nurnberg,P., Li,C., Garcia,F., V, Kets,C.M., Schmidtke,J., Cruz,V.T., Van den Akker,P.C., Boak,J., Peter,D., Compoginis,G., Cefle,K., Ozturk,S., Lopez,N., Wessel,T., Poot,M., Ippel,P.F., Groff-Kellermann,B., Hoehn,H., Martin,G.M., Kubisch,C., and Oshima,J. (2010). WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet. 128, 103-111.

Gailus,S., Hohne,W., Gasnier,B., Nurnberg,P., Fowler,B., and Rutsch,F. (2010). Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease. J Mol Med. 88, 459-466.

Gailus,S., Suormala,T., Malerczyk-Aktas,A.G., Toliat,M.R., Wittkampf,T., Stucki,M., Nurnberg,P., Fowler,B., Hennermann,J.B., and Rutsch,F. (2010). A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient. J Inherit Metab Dis. 33, 17-24.

Gallinat,J., Schubert,F., Bruhl,R., Hellweg,R., Klar,A.A., Kehrer,C., Wirth,C., Sander,T., and Lang,U.E. (2010). Met carriers of BDNF Val66Met genotype show increased N-acetylaspartate concentration in the anterior cingulate cortex. Neuroimage. 49, 767-771.

Giegling,I., Drago,A., Dolzan,V., Plesnicar,B.K., Schafer,M., Hartmann,A.M., Sander,T., Toliat,M.R., Moller,H.J., Stassen,H.H., Rujescu,D., and Serretti,A. (2010). Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol. Pharmacogenet Genomics. [Epub ahead of print]

Iseri,S.U., Wyatt,A.W., Nurnberg,G., Kluck,C., Nurnberg,P., Holder,G.E., Blair,E., Salt,A., and Ragge,N.K. (2010). Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy. Hum Genet. 128, 51-60.

Knoblauch,H., Geier,C., Adams,S., Budde,B., Rudolph,A., Zacharias,U., Schulz-Menger,J., Spuler,A., Yaou,R.B., Nurnberg,P., Voit,T., Bonne,G., and Spuler,S. (2010). Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation. Ann. Neurol. 67, 136-140.

Konrad,A., Dielentheis,T.F., El,M.D., Bayerl,M., Fehr,C., Gesierich,T., Vucurevic,G., Stoeter,P., and Winterer,G. (2010). Disturbed structural connectivity is related to inattention and impulsivity in adult attention deficit hyperactivity disorder. Eur J Neurosci. 31, 912-919.

Kornak,U., Brancati,F., Le,M.M., Lichtenbelt,K., Hohne,W., Tinschert,S., Garaci,F.G., Dallapiccola,B., and Nurnberg,P. (2010). Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. Am J Med Genet A. 152A, 870-874.

Krumbiegel,M., Pasutto,F., Schlotzer-Schrehardt,U., Uebe,S., Zenkel,M., Mardin,C.Y., Weisschuh,N., Paoli,D., Gramer,E., Becker,C., Ekici,A.B., Weber,B.H., Nurnberg,P., Kruse,F.E., and Reis,A. (2010). Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. Eur J Hum Genet.[Epub ahead of print]

Leineweber,K., Frey,U.H., Tenderich,G., Toliat,M.R., Zittermann,A., Nurnberg,P., Korfer,R., Siffert,W., and Heusch,G. (2010). The Arg16Gly-beta(2)-adrenoceptor single nucleotide polymorphism: exercise capacity and survival in patients with end-stage heart failure. Naunyn Schmiedebergs Arch Pharmacol. 382, 357-365.

Lenz,B., Klafki,H.W., Hillemacher,T., Killisch,N., Schaller,G., Frieling,H., Clepce,M., Gossler,A., Thuerauf,N., Winterer,G., Kornhuber,J., and Bleich,S. (2010). Smoking behaviour is associated with expression and phosphorylation of CREB in human buffy coat. Int J Neuropsychopharmacol. 13, 207-215.

Li,S.C., Chicherio,C., Nyberg,L., von,O.T., Nagel,I.E., Papenberg,G., Sander,T., Heekeren,H.R., Lindenberger,U., and Backman,L. (2010). Ebbinghaus revisited: influences of the BDNF Val66Met polymorphism on backward serial recall are modulated by human aging. J Cogn Neurosci. 22, 2164-2173.

Li,Y., Pawlik,B., Elcioglu,N., Aglan,M., Kayserili,H., Yigit,G., Percin,F., Goodman,F., Nurnberg,G., Cenani,A., Urquhart,J., Chung,B.D., Ismail,S., Amr,K., Aslanger,A.D., Becker,C., Netzer,C., Scambler,P., Eyaid,W., Hamamy,H., Clayton-Smith,J., Hennekam,R., Nurnberg,P., Herz,J., Temtamy,S.A., and Wollnik,B. (2010). LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. Am J Hum Genet. 86, 696-706.

Li,Y., Pohl,E., Boulouiz,R., Schraders,M., Nurnberg,G., Charif,M., Admiraal,R.J., von,A.S., Baessmann,I., Kandil,M., Veltman,J.A., Nurnberg,P., Kubisch,C., Barakat,A., Kremer,H., and Wollnik,B. (2010). Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet. 86, 479-484.

Mittrach,M., Thunker,J., Winterer,G., Agelink,M.W., Regenbrecht,G., Arends,M., Mobascher,A., Kim,S.J., Wolwer,W., Brinkmeyer,J., Gaebel,W., and Cordes,J. (2010). The tolerability of rTMS treatment in schizophrenia with respect to cognitive function. Pharmacopsychiatry. 43, 110-117.

Mobascher,A., Rujescu,D., Mittelstrass,K., Giegling,I., Lamina,C., Nitz,B., Brenner,H., Fehr,C., Breitling,L.P., Gallinat,J., Rothenbacher,D., Raum,E., Muller,H., Ruppert,A., Hartmann,A.M., Moller,H.J., Gal,A., Gieger,C., Wichmann,H.E., Illig,T., Dahmen,N., and Winterer,G. (2010). Association of a variant in the muscarinic acetylcholine receptor 2 gene (CHRM2) with nicotine addiction. Am J Med Genet B Neuropsychiatr Genet. 153B, 684-690.

Mobascher,A., Brinkmeyer,J., Warbrick,T., Musso,F., Schlemper,V., Wittsack,H.J., Saleh,A., Schnitzler,A., and Winterer,G. (2010). Brain activation patterns underlying fast habituation to painful laser stimuli. Int J Psychophysiol. 75, 16-24.

Mobascher,A., Brinkmeyer,J., Warbrick,T., Wels,C., Wagner,M., Grunder,G., Spreckelmeyer,K.N., Wienker,T., Diaz,L.A., Dahmen,N., Bottcher,M., Thuerauf,N., Clepce,M., Kiefer,F., De,M.W., Gallinat,J., and Winterer,G. (2010). The P300 event-related potential and smoking - A population-based case-control study. Int J Psychophysiol. 77, 166-175.

Mobascher,A., Brinkmeyer,J., Thiele,H., Toliat,M.R., Steffens,M., Warbrick,T., Musso,F., Wittsack,H.J., Saleh,A., Schnitzler,A., and Winterer,G. (2010). The val158met polymorphism of human catechol-O-methyltransferase (COMT) affects anterior cingulate cortex activation in response to painful laser stimulation. Mol Pain. 6, 32.

Muhle,H., von,S.S., Gaus,V., Kara,S., Helbig,I., Hampe,J., Franke,A., Weber,Y., Lerche,H., Kleefuss-Lie,A.A., Elger,C.E., Schreiber,S., Stephani,U., and Sander,T. (2010). Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis. Epilepsy Res. 89, 319-326.

Musso,F., Brinkmeyer,J., Mobascher,A., Warbrick,T., and Winterer,G. (2010). Spontaneous brain activity and EEG microstates. A novel EEG/fMRI analysis approach to explore resting-state networks. Neuroimage. 52, 1149-1161.

Opgen-Rhein,C., Brandl,E.J., Muller,D.J., Neuhaus,A.H., Tiwari,A.K., Sander,T., and Dettling,M. (2010). Association of HTR2C, but not LEP or INSIG2, genes with antipsychotic-induced weight gain in a German sample. Pharmacogenomics. 11, 773-780.

O'Toole,J.F., Liu,Y., Davis,E.E., Westlake,C.J., Attanasio,M., Otto,E.A., Seelow,D., Nurnberg,G., Becker,C., Nuutinen,M., Karppa,M., Ignatius,J., Uusimaa,J., Pakanen,S., Jaakkola,E., van den Heuvel,L.P., Fehrenbach,H., Wiggins,R., Goyal,M., Zhou,W., Wolf,M.T., Wise,E., Helou,J., Allen,S.J., Murga-Zamalloa,C.A., Ashraf,S., Chaki,M., Heeringa,S., Chernin,G., Hoskins,B.E., Chaib,H., Gleeson,J., Kusakabe,T., Suzuki,T., Isaac,R.E., Quarmby,L.M., Tennant,B., Fujioka,H., Tuominen,H., Hassinen,I., Lohi,H., van Houten,J.L., Rotig,A., Sayer,J.A., Rolinski,B., Freisinger,P., Madhavan,S.M., Herzer,M., Madignier,F., Prokisch,H., Nurnberg,P., Jackson,P.K., Khanna,H., Katsanis,N., and Hildebrandt,F. (2010). Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest. 120, 791-802.

Oji,V., Eckl,K.M., Aufenvenne,K., Natebus,M., Tarinski,T., Ackermann,K., Seller,N., Metze,D., Nurnberg,G., Folster-Holst,R., Schafer-Korting,M., Hausser,I., Traupe,H., and Hennies,H.C. (2010). Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet. 87, 274-281.

Oji,V., Tadini,G., Akiyama,M., Blanchet,B.C., Bodemer,C., Bourrat,E., Coudiere,P., DiGiovanna,J.J., Elias,P., Fischer,J., Fleckman,P., Gina,M., Harper,J., Hashimoto,T., Hausser,I., Hennies,H.C., Hohl,D., Hovnanian,A., Ishida-Yamamoto,A., Jacyk,W.K., Leachman,S., Leigh,I., Mazereeuw-Hautier,J., Milstone,L., Morice-Picard,F., Paller,A.S., Richard,G., Schmuth,M., Shimizu,H., Sprecher,E., Van,S.M., Taieb,A., Toro,J.R., Vabres,P., Vahlquist,A., Williams,M., and Traupe,H. (2010). Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. J Am Acad. Dermatol. 63, 607-641.

Otto,E.A., Hurd,T.W., Airik,R., Chaki,M., Zhou,W., Stoetzel,C., Patil,S.B., Levy,S., Ghosh,A.K., Murga-Zamalloa,C.A., van,R.J., Letteboer,S.J., Sang,L., Giles,R.H., Liu,Q., Coene,K.L., Estrada-Cuzcano,A., Collin,R.W., McLaughlin,H.M., Held,S., Kasanuki,J.M., Ramaswami,G., Conte,J., Lopez,I., Washburn,J., Macdonald,J., Hu,J., Yamashita,Y., Maher,E.R., Guay-Woodford,L.M., Neumann,H.P., Obermuller,N., Koenekoop,R.K., Bergmann,C., Bei,X., Lewis,R.A., Katsanis,N., Lopes,V., Williams,D.S., Lyons,R.H., Dang,C.V., Brito,D.A., Dias,M.B., Zhang,X., Cavalcoli,J.D., Nurnberg,G., Nurnberg,P., Pierce,E.A., Jackson,P.K., Antignac,C., Saunier,S., Roepman,R., Dollfus,H., Khanna,H., and Hildebrandt,F. (2010). Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet. 42, 840-850.

Pawlik,B., Mir,A., Iqbal,H., Li,Y., Nurnberg,G., Becker,C., Qamar,R., Nurnberg,P., and Wollnik,B. (2010). A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies. Mol Syndromol. 1, 27-34.

Preuschhof,C., Heekeren,H.R., Li,S.C., Sander,T., Lindenberger,U., and Backman,L. (2010). KIBRA and CLSTN2 polymorphisms exert interactive effects on human episodic memory. Neuropsychologia. 48, 402-408.

Reese,J., Kraschewski,A., Anghelescu,I., Winterer,G., Schmidt,L.G., Gallinat,J., Ruschendorf,F., Rommelspacher,H., and Wernicke,C. (2010). Haplotypes of dopamine and serotonin transporter genes are associated with antisocial personality disorder in alcoholics. Psychiatr. Genet. 20, 140-152.

Steffens,M., Becker,T., Sander,T., Fimmers,R., Herold,C., Holler,D.A., Leu,C., Herms,S., Cichon,S., Bohn,B., Gerstner,T., Griebel,M., Nothen,M.M., Wienker,T.F., and Baur,M.P. (2010). Feasible and successful: genome-wide interaction analysis involving all 1.9 x 10(11) pair-wise interaction tests. Hum Hered. 69, 268-284.

Thiele,H., du,M.M., Barczyk,K., George,C., Schwindt,W., Nurnberg,G., Frosch,M., Kurlemann,G., Roth,J., Nurnberg,P., and Rutsch,F. (2010). Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutieres syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat. [Epub ahead of print]

Trindade,F., Fiadeiro,T., Torrelo,A., Hennies,H.C., Hausser,I., and Traupe,H. (2010). Bathing suit ichthyosis. Eur J Dermatol. 20, 447-450.

Truong,T., Hung,R.J., Amos,C.I., Wu,X., Bickeboller,H., Rosenberger,A., Sauter,W., Illig,T., Wichmann,H.E., Risch,A., Dienemann,H., Kaaks,R., Yang,P., Jiang,R., Wiencke,J.K., Wrensch,M., Hansen,H., Kelsey,K.T., Matsuo,K., Tajima,K., Schwartz,A.G., Wenzlaff,A., Seow,A., Ying,C., Staratschek-Jox,A., Nurnberg,P., Stoelben,E., Wolf,J., Lazarus,P., Muscat,J.E., Gallagher,C.J., Zienolddiny,S., Haugen,A., van der Heijden,H.F., Kiemeney,L.A., Isla,D., Mayordomo,J.I., Rafnar,T., Stefansson,K., Zhang,Z.F., Chang,S.C., Kim,J.H., Hong,Y.C., Duell,E.J., Andrew,A.S., Lejbkowicz,F., Rennert,G., Muller,H., Brenner,H., Le,M.L., Benhamou,S., Bouchardy,C., Teare,M.D., Xue,X., McLaughlin,J., Liu,G., McKay,J.D., Brennan,P., and Spitz,M.R. (2010). Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. J Natl. Cancer Inst. 102, 959-971.

Vistoropsky,Y., Ermakov,S., Toliat,M.R., Trofimov,S., Altmuller,J., Malkin,I., Nurnberg,P., and Livshits,G. (2010). Genetic determinants of circulating levels of tumor necrosis factor receptor II and their association with TNF-RII gene polymorphisms. Cytokine. 51, 28-34.

von der Goltz,C., Koopmann,A., Dinter,C., Richter,A., Rockenbach,C., Grosshans,M., Nakovics,H., Wiedemann,K., Mann,K., Winterer,G., and Kiefer,F. (2010). Orexin and leptin are associated with nicotine craving: a link between smoking, appetite and reward. Psychoneuroendocrinology. 35, 570-577.

von Spiczak,S., Muhle,H., Helbig,I., de Kovel,C.G., Hampe,J., Gaus,V., Koeleman,B.P., Lindhout,D., Schreiber,S., Sander,T., and Stephani,U. (2010). Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity. Neuromolecular. Med. 12, 292-299.

Winterer,G. (2010). Why do patients with schizophrenia smoke? Curr Opin. Psychiatry. 23, 112-119.

Winterer,G., Mittelstrass,K., Giegling,I., Lamina,C., Fehr,C., Brenner,H., Breitling,L.P., Nitz,B., Raum,E., Muller,H., Gallinat,J., Gal,A., Heim,K., Prokisch,H., Meitinger,T., Hartmann,A.M., Moller,H.J., Gieger,C., Wichmann,H.E., Illig,T., Dahmen,N., and Rujescu,D. (2010). Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance. Am J Med Genet B Neuropsychiatr Genet. [Epub ahead of print]