Publications 2012
Asharani,P.V., Keupp,K., Semler,O., Wang,W., Li,Y., Thiele,H., Yigit,G., Pohl,E., Becker,J., Frommolt,P., Sonntag,C., Altmüller,J., Zimmermann,K., Greenspan,D.S., Akarsu,N.A., Netzer,C., Schönau,E., Wirth,R., Hammerschmidt,M., Nürnberg,P., Wollnik,B., and Carney,T.J. (2012). Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet. 90, 661-674.
Aubin,H.J., Rollema,H., Svensson,T.H., and Winterer,G. (2012). Smoking, quitting, and psychiatric disease: a review. Neurosci Biobehav Rev. 36, 271-284.
Aufenvenne,K., Rice,R.H., Hausser,I., Oji,V., Hennies,H.C., Rio,M.D., Traupe,H., and Larcher,F. (2012). Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies. J Invest Dermatol. 132, 1918-1921.
Ballantyne,K.N., Keerl,V., Wollstein,A., Choi,Y., Zuniga,S.B., Ralf,A., Vermeulen,M., de Knijff,P., and Kayser,M. (2012). A new future of forensic Y-chromosome analysis: Rapidly mutating Y-STRs for differentiating male relatives and paternal lineages. Forensic Sci Int Genet. 6, 208-218.
Basel-Vanagaite,L., Dallapiccola,B., Ramirez-Solis,R., Segref,A., Thiele,H., Edwards,A., Arends,M.J., Miró,X., White,J.K., Désir,J., Abramowicz,M., Dentici,M.L., Lepri,F., Hofmann,K., Har-Zahav,A., Ryder,E., Karp,N.A., Estabel,J., Gerdin,A.K., Podrini,C., Ingham,N.J., Altmüller,J., Nürnberg,G., Frommolt,P., Abdelhak,S., Pasmanik-Chor,M., Konen,O., Kelley,R.I., Shohat,M., Nürnberg,P., Flint,J., Steel,K.P., Hoppe,T., Kubisch,C., Adams,D.J., and Borck,G. (2012). Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 91, 998-1010.
Bendon,C.L., Fenwick,A.L., Hurst,J.A., Nürnberg,G., Nürnberg,P., Wall,S.A., Wilkie,A.O., and Johnson,D. (2012). Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med Genet. 13, 104.
Bettecken,T., Frenkel,Z.M., Altmüller,J., Nürnberg,P., and Trifonov,E.N. (2012). Apoptotic cleavage of DNA in human lymphocyte chromatin shows high sequence specificity. J Biomol Struct Dyn. 30, 211-216.
Blaydon,D.C., Etheridge,S.L., Risk,J.M., Hennies,H.C., Gay,L.J., Carroll,R., Plagnol,V., McRonald,F.E., Stevens,H.P., Spurr,N.K., Bishop,D.T., Ellis,A., Jankowski,J., Field,J.K., Leigh,I.M., South,A.P., and Kelsell,D.P. (2012). RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet. 90, 340-346.
Borck,G., Kakar,N., Hoch,J., Friedrich,K., Freudenberg,J., Nürnberg,G., Yilmaz,R., Daud,S., Baloch,D.M., Nürnberg,P., Oldenburg,J., Ahmad,J., and Kubisch,C. (2012). An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group. Hum Genet. 131, 209-216.
Borck,G., Shin,B.S., Stiller,B., Mimouni-Bloch,A., Thiele,H., Kim,J.R., Thakur,M., Skinner,C., Aschenbach,L., Smirin-Yosef,P., Har-Zahav,A., Nürnberg,G., Altmüller,J., Frommolt,P., Hofmann,K., Konen,O., Nürnberg,P., Munnich,A., Schwartz,C.E., Gothelf,D., Colleaux,L., Dever,T.E., Kubisch,C., and Basel-Vanagaite,L. (2012). eIF2? Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation. Mol Cell. 48, 641-646.
Breitenkamp,A.F.S., Sinzig,J., Nurnberg,P., and Herzig,S. (2012). Autistic patients exhibit rare missense mutations in the calcium channel beta 2 subunit gene which result in a reduced time-dependent inactivation of Ca(V)1.2. Naunyn Schmiedebergs Arch Pharmacol. 385 1, 15-16.
Buers,I., Coelho,D., Kim,J.C., Miousse,I.R., du Moulin,M., Suormala,T., Nurnberg,P., Thiele,H., Hohne,W., Longo,N., Pasquali,M., Mengel,E., Watkins,D., Majewski,J., Rosenblatt,D.S., Fowler,B., Baumgartner,M.R., and Rutsch,F. (2012). Mutations in ABCD4 lead to a novel cobalamin complementation class. Eur J Pediatr. 171, 1427.
Chaki,M., Airik,R., Ghosh,A.K., Giles,R.H., Chen,R., Slaats,G.G., Wang,H., Hurd,T.W., Zhou,W., Cluckey,A., Gee,H.Y., Ramaswami,G., Hong,C.J., Hamilton,B.A., Cervenka,I., Ganji,R.S., Bryja,V., Arts,H.H., van Reeuwijk,J., Oud,M.M., Letteboer,S.J., Roepman,R., Husson,H., Ibraghimov-Beskrovnaya,O., Yasunaga,T., Walz,G., Eley,L., Sayer,J.A., Schermer,B., Liebau,M.C., Benzing,T., Le Corre,S., Drummond,I., Janssen,S., Allen,S.J., Natarajan,S., O'Toole,J.F., Attanasio,M., Saunier,S., Antignac,C., Koenekoop,R.K., Ren,H., Lopez,I., Nayir,A., Stoetzel,C., Dollfus,H., Massoudi,R., Gleeson,J.G., Andreoli,S.P., Doherty,D.G., Lindstrad,A., Golzio,C., Katsanis,N., Pape,L., Abboud,E.B., Al-Rajhi,A.A., Lewis,R.A., Omran,H., Lee,E.Y., Wang,S., Sekiguchi,J.M., Saunders,R., Johnson,C.A., Garner,E., Vanselow,K., Andersen,J.S., Shlomai,J., Nurnberg,G., Nurnberg,P., Levy,S., Smogorzewska,A., Otto,E.A., and Hildebrandt,F. (2012). Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 150, 533-548.
Cirak,S., Foley,R.A., Herrmann,R., Willer,T., Elisabeth,S., Yau,M., Brodd,L., Torelli,S., Kamynina,A., Vondracek,P., Roper,H., Longman,C., Korinthenberg,R., Marrosu,G., Nurnberg,P., Plagnol,V., Hurles,M., Sewry,C.A., Campbell,K.P., Voit,T., Muntoni,F., and UK,W.T. (2012). Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies. Neuromuscul Disord. 22, 812.
Coelho,D., Kim,J.C., Miousse,I.R., Fung,S., du Moulin,M., Buers,I., Suormala,T., Burda,P., Frapolli,M., Stucki,M., Nürnberg,P., Thiele,H., Robenek,H., Höhne,W., Longo,N., Pasquali,M., Mengel,E., Watkins,D., Shoubridge,E.A., Majewski,J., Rosenblatt,D.S., Fowler,B., Rutsch,F., and Baumgartner,M.R. (2012). Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 44, 1152-1155.
Cohrs,S., Rodenbeck,A., Riemann,D., Szagun,B., Jaehne,A., Brinkmeyer,J., Grunder,G., Wienker,T., az-Lacava,A., Mobascher,A., Dahmen,N., Thuerauf,N., Kornhuber,J., Kiefer,F., Gallinat,J., Wagner,M., Kunz,D., Grittner,U., and Winterer,G. (2012). Impaired sleep quality and sleep duration in smokers-results from the German Multicenter Study on Nicotine Dependence. Addict. Biol. 10-1600.
Dickmann,F., Falkner,J., Gunia,W., Hampe,J., Hausmann,M., Herrmann,A., Kepper,N., Knoch,T.A., Lauterbach,S., Lippert,J., Peter,K., Schmitt,E., Schwardmann,U., Solodenko,J., Sommerfeld,D., Steinke,T., Weisbecker,A., and Sax,U. (2012). Solutions for biomedical grid computing?CöCase studies from the D-Grid project Services@MediGRID. J Comput Sci. 3, 280-297.
Eisenberger,T., Slim,R., Mansour,A., Nauck,M., Nürnberg,G., Nürnberg,P., Decker,C., Dafinger,C., Ebermann,I., Bergmann,C., and Bolz,H.J. (2012). Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. Orphanet J Rare Dis. 7, 59.
Elleder,D., Kim,O., Padhi,A., Bankert,J.G., Simeonov,I., Schuster,S.C., Wittekindt,N.E., Motameny,S., and Poss,M. (2012). Polymorphic integrations of an endogenous gammaretrovirus in the mule deer genome. J Virol. 86, 2787-2796.
Ellinghaus,E., Stanulla,M., Richter,G., Ellinghaus,D., te Kronnie,G., Cario,G., Cazzaniga,G., Horstmann,M., Panzer Grümayer,R., Cavé,H., Trka,J., Cinek,O., Teigler-Schlegel,A., ElSharawy,A., Häsler,R., Nebel,A., Meissner,B., Bartram,T., Lescai,F., Franceschi,C., Giordan,M., Nürnberg,P., Heinzow,B., Zimmermann,M., Schreiber,S., Schrappe,M., and Franke,A. (2012). Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. Leukemia. 26, 902-909.
EPICURE Consortium, EMINet Consortium, Steffens,M., Leu,C., Ruppert,A.K., Zara,F., Striano,P., Robbiano,A., Capovilla,G., Tinuper,P., Gambardella,A., Bianchi,A., La Neve,A., Crichiutti,G., de Kovel,C.G., Kasteleijn-Nolst Trenité,D., de Haan,G.J., Lindhout,D., Gaus,V., Schmitz,B., Janz,D., Weber,Y.G., Becker,F., Lerche,H., Steinhoff,B.J., Kleefuß-Lie,A.A., Kunz,W.S., Surges,R., Elger,C.E., Muhle,H., von Spiczak,S., Ostertag,P., Helbig,I., Stephani,U., Møller,R.S., Hjalgrim,H., Dibbens,L.M., Bellows,S., Oliver,K., Mullen,S., Scheffer,I.E., Berkovic,S.F., Everett,K.V., Gardiner,M.R., Marini,C., Guerrini,R., Lehesjoki,A.E., Siren,A., Guipponi,M., Malafosse,A., Thomas,P., Nabbout,R., Baulac,S., Leguern,E., Guerrero,R., Serratosa,J.M., Reif,P.S., Rosenow,F., Mörzinger,M., Feucht,M., Zimprich,F., Kapser,C., Schankin,C.J., Suls,A., Smets,K., De Jonghe,P., Jordanova,A., Caglayan,H., Yapici,Z., Yalcin,D.A., Baykan,B., Bebek,N., Ozbek,U., Gieger,C., Wichmann,H.E., Balschun,T., Ellinghaus,D., Franke,A., Meesters,C., Becker,T., Wienker,T.F., Hempelmann,A., Schulz,H., Rüschendorf,F., Leber,M., Pauck,S.M., Trucks,H., Toliat,M.R., Nürnberg,P., Avanzini,G., Koeleman,B.P., and Sander,T. (2012). Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet. 21, 5359-5372.
EPICURE Consortium, Leu,C., de Kovel,C.G., Zara,F., Striano,P., Pezzella,M., Robbiano,A., Bianchi,A., Bisulli,F., Coppola,A., Giallonardo,A.T., Beccaria,F., Trenité,D.K., Lindhout,D., Gaus,V., Schmitz,B., Janz,D., Weber,Y.G., Becker,F., Lerche,H., Kleefuss-Lie,A.A., Hallman,K., Kunz,W.S., Elger,C.E., Muhle,H., Stephani,U., Møller,R.S., Hjalgrim,H., Mullen,S., Scheffer,I.E., Berkovic,S.F., Everett,K.V., Gardiner,M.R., Marini,C., Guerrini,R., Lehesjoki,A.E., Siren,A., Nabbout,R., Baulac,S., Leguern,E., Serratosa,J.M., Rosenow,F., Feucht,M., Unterberger,I., Covanis,A., Suls,A., Weckhuysen,S., Kaneva,R., Caglayan,H., Turkdogan,D., Baykan,B., Bebek,N., Ozbek,U., Hempelmann,A., Schulz,H., Rüschendorf,F., Trucks,H., Nürnberg,P., Avanzini,G., Koeleman,B.P., Sander,T., Zimprich,F., Mçrzinger,M., Feucht,M., Suls,A., Weckhuysen,S., Claes,L., Deprez,L., Smets,K., Van Dyck,T., Deconinck,T., De Jonghe,P., Velizarova,R., Dimova,P., Radionova,M., Tournev,I., Kancheva,D., Kaneva,R., Jordanova,A., Møller,R.S., Hjalgrim,H., Møller,R.S., Lehesjoki,A.E., Siren,A., Baulac,M., Baulac,S., Gourfinkel-An,I., Helbig,I., Muhle,H., von Spiczak,S., Ostertag,P., Stephani,U., Leber,M., Leu,C., Sander,T., Toliat,M.R., Trucks,H., Nürnberg,P., Hempelmann,A., Rüschendorf,F., Sander,T., Elger,C.E., Hallmann,K., Kleefuss-Lie,A.A., Kunz,W.S., Gaus,V., Janz,D., Sander,T., Schmitz,B., Klein,K.M., Reif,P.S., Oertel,W.H., Hamer,H.M., Rosenow,F., Becker,F., Weber,Y., Lerche,H., Marini,C., Guerrini,R., Mei,D., Norci,V., Zara,F., Striano,P., Robbiano,A., Pezzella,M., Bianchi,A., Gambardella,A., Tinuper,P., La Neve,A., Capovilla,G., Vigliano,P., Crichiutti,G., Vanadia,F., Vignoli,A., Coppola,A., Striano,S., Egeo,G., Giallonardo,A.T., Franceschetti,S., Belcastro,V., Benna,P., Coppola,G., De Palo,A., Ferlazzo,E., Vecchi,M., Martinelli,V., Bisulli,F., Beccaria,F., Del Giudice,E., Mancardi,M., Stranci,G., Scabar,A., Gobbi,G., Giordano,I., Guerero,R., Giraldez,B.G., Serratosa,J.M., Koeleman,B.P., de Kovel,C., Lindhout,D., de Haan,G.J., Ozbek,U., Bebek,N., Baykan,B., Ozdemir,O., Ugur,S., Kocasoy-Orhan,E., Yücesan,E., Cine,N., Gokyigit,A., Gurses,C., Gul,G., Ayta,S., Yapici,Z., Ozkara,C., Caglayan,H., Yalcin,O., Yalcin,D., Turkdogan,D., Arslan,K., Bozdemir,H., Dizdarer,G., and Uluduz,D. (2012). Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. Epilepsia. 53, 308-318.
Forstbauer,L.M., Brockschmidt,F.F., Moskvina,V., Herold,C., Redler,S., Herzog,A., Hillmer,A.M., Meesters,C., Heilmann,S., Albert,F., Alblas,M., Hanneken,S., Eigelshoven,S., Giehl,K.A., Jagielska,D., Blume-Peytavi,U., Garcia Bartels,N., Kuhn,J., Hennies,H.C., Goebeler,M., Jung,A., Peitsch,W.K., Kortüm,A.K., Moll,I., Kruse,R., Lutz,G., Wolff,H., Blaumeiser,B., Böhm,M., Kirov,G., Becker,T., Nöthen,M.M., and Betz,R.C. (2012). Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. Eur J Hum Genet. 20, 326-332.
Frommolt,P., Abdallah,A.T., Altmüller,J., Motameny,S., Thiele,H., Becker,C., Stemshorn,K., Fischer,M., Freilinger,T., and Nürnberg,P. (2012). Assessing the enrichment performance in targeted resequencing experiments. Hum Mutat. 33, 635-641.
Gortner,L., Ahnert,P., Gopel,W., and Nurnberg,P. (2012). Genomic risk factors for bronchopulmonary dysplasia (BPD) in preterm neonates. Klin Padiatr. 224, 478.
Haberlova,J., Mazanec,R., Ridzon,P., Barankova,L., Nurnberg,G., Nurnberg,P., Sticht,H., Huehne,K., Seeman,P., and Rautenstrauss,B. (2012). Phenotypic Variability in a Large Czech Family with a Dynamin 2 - Associated Charcot-Marie-Tooth Neuropathy (vol 25, pg 182, 2011). J Neurogenet. 26, 252.
Halevy,A., Basel-Vanagaite,L., Shuper,A., Helman,S., Har-Zahav,A., Birk,E., Maya,I., Kornreich,L., Inbar,D., Nürnberg,G., Nürnberg,P., Steinberg,T., and Straussberg,R. (2012). Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12. Pediatr Neurol. 46, 363-368.
Hansen,L., Mikkelsen,A., Nurnberg,P., Nurnberg,G., Anjum,I., Eiberg,H., and Rosenberg,T. (2012). Comprehensive Mutational Screening in a Cohort of Danish Families with Hereditary Congenital Cataract (vol 50, pg 3291, 2009). Invest Ophthalmol Vis Sci. 53, 6667.
Hermsen,A., Menzler,K., Reif,P.S., Balkenhol,K., Bugiel,H., Klein,K.M., Duddek,C., Hamer,H.M., Trucks,H., Sander,T., Haag,A., and Rosenow,F. (2012). THE SCN1A-PLOYMORPHISM AND CARBAMAZEPINE - EFFECTS ON CORTICAL EXCITABILITY IN HEALTHY ADULTS IN A TMS-STUDY IN THE EPICURE-CONSORTIUM. Epilepsia. 53 5, 133.
Horvath,R., Holinski-Feder,E., Neeve,V.C., Pyle,A., Griffin,H., Ashok,D., Foley,C., Hudson,G., Rautenstrauss,B., Nürnberg,G., Nürnberg,P., Kortler,J., Neitzel,B., Bässmann,I., Rahman,T., Keavney,B., Loughlin,J., Hambleton,S., Schoser,B., Lochmüller,H., Santibanez-Koref,M., and Chinnery,P.F. (2012). A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Mov Disord. 27, 789-793.
Huppke,P., Brendel,C., Kalscheuer,V., Korenke,G.C., Marquardt,I., Freisinger,P., Christodoulou,J., Hillebrand,M., Pitelet,G., Wilson,C., Gruber-Sedlmayr,U., Ullmann,R., Haas,S., Elpeleg,O., Nürnberg,G., Nürnberg,P., Dad,S., Møller,L.B., Kaler,S.G., and Gärtner,J. (2012). Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. Am J Hum Genet. 90, 61-68.
Hussain,M.S., Baig,S.M., Neumann,S., Nürnberg,G., Farooq,M., Ahmad,I., Alef,T., Hennies,H.C., Technau,M., Altmüller,J., Frommolt,P., Thiele,H., Noegel,A.A., and Nürnberg,P. (2012). A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet. 90, 871-878.
Imboden,M., Bouzigon,E., Curjuric,I., Ramasamy,A., Kumar,A., Hancock,D.B., Wilk,J.B., Vonk,J.M., Thun,G.A., Siroux,V., Nadif,R., Monier,F., Gonzalez,J.R., Wjst,M., Heinrich,J., Loehr,L.R., Franceschini,N., North,K.E., Altmüller,J., Koppelman,G.H., Guerra,S., Kronenberg,F., Lathrop,M., Moffatt,M.F., O'Connor,G.T., Strachan,D.P., Postma,D.S., London,S.J., Schindler,C., Kogevinas,M., Kauffmann,F., Jarvis,D.L., Demenais,F., and Probst-Hensch,N.M. (2012). Genome-wide association study of lung function decline in adults with and without asthma. J Allergy Clin Immunol. 129, 1218-1228.
Jansen,P.A., van den Bogaard,E.H., Kersten,F.F., Oostendorp,C., van Vlijmen-Willems,I.M., Oji,V., Traupe,H., Hennies,H.C., Schalkwijk,J., and Zeeuwen,P.L. (2012). Cystatin M/E knockdown by lentiviral delivery of shRNA impairs epidermal morphogenesis of human skin equivalents. Exp Dermatol. 21, 889-891.
Kakar,N., Goebel,I., Daud,S., Nürnberg,G., Agha,N., Ahmad,A., Nürnberg,P., Kubisch,C., Ahmad,J., and Borck,G. (2012). A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly. Eur J Med Genet. 55, 727-731.
Konrad,A., Dielentheis,T.F., El Masri,D., Dellani,P.R., Stoeter,P., Vucurevic,G., and Winterer,G. (2012). White matter abnormalities and their impact on attentional performance in adult attention-deficit/hyperactivity disorder. Eur Arch Psychiatry Clin Neurosci. 262, 351-360.
Konrad,A., Vucurevic,G., Musso,F., and Winterer,G. (2012). VBM-DTI correlates of verbal intelligence: a potential link to Broca's area. J Cogn Neurosci. 24, 888-895.
Kumar,S., Rathkolb,B., Budde,B.S., Nürnberg,P., de Angelis,M.H., Aigner,B., and Schneider,M.R. (2012). Gsdma3(I359N) is a novel ENU-induced mutant mouse line for studying the function of Gasdermin A3 in the hair follicle and epidermis. J Dermatol Sci. 67, 190-192.
Kühn,S., Romanowski,A., Schilling,C., Mobascher,A., Warbrick,T., Winterer,G., and Gallinat,J. (2012). Brain grey matter deficits in smokers: focus on the cerebellum. Brain Struct Funct. 217, 517-522.
Kühn,S., Musso,F., Mobascher,A., Warbrick,T., Winterer,G., and Gallinat,J. (2012). Hippocampal subfields predict positive symptoms in schizophrenia: first evidence from brain morphometry. Transl Psychiatry. 2, e127.
Lenz,B., Klafki,H.W., Hillemacher,T., Frieling,H., Clepce,M., Gossler,A., Thuerauf,N., Winterer,G., Kornhuber,J., and Bleich,S. (2012). ERK1/2 protein and mRNA levels in human blood are linked to smoking behavior. Addict Biol. 17, 1026-1035.
Lessel,D., Gamulin,M., Kulis,T., Toliat,M.R., Grgic,M., Friedrich,K., Zunec,R., Balija,M., Nürnberg,P., Nürnberg,P., Kastelan,Z., Högel,J., and Kubisch,C. (2012). Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population. Carcinogenesis. 33, 1548-1552.
Luckhaus,C., Henning,U., Ferrea,S., Musso,F., Mobascher,A., and Winterer,G. (2012). Nicotinic acetylcholine receptor expression on B-lymphoblasts of healthy versus schizophrenic subjects stratified for smoking: [3H]-nicotine binding is decreased in schizophrenia and correlates with negative symptoms. J Neural Transm. 119, 587-595.
Mahmood,S., Beetz,C., Tahir,M.M., Imran,M., Mumtaz,R., Bassmann,I., Jahic,A., Malik,M., Nürnberg,G., Hassan,S.A., Rana,S., Nürnberg,P., and Hübner,C.A. (2012). First HPSE2 missense mutation in urofacial syndrome. Clin Genet. 81, 88-92.
Meimaridou,E., Kowalczyk,J., Guasti,L., Hughes,C.R., Wagner,F., Frommolt,P., Nürnberg,P., Nürnberg,P., Mann,N.P., Banerjee,R., Saka,H.N., Chapple,J.P., King,P.J., Clark,A.J., and Metherell,L.A. (2012). Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet. 44, 740-742.
Mobascher,A., Warbrick,T., Brinkmeyer,J., Musso,F., Stoecker,T., Jon,S.N., and Winterer,G. (2012). Nicotine effects on anterior cingulate cortex in schizophrenia and healthy smokers as revealed by EEG-informed fMRI. Psychiatry Res. 204, 168-177.
Mutschler,J., Abbruzzese,E., von der Goltz,C., Dinter,C., Mobascher,A., Thiele,H., az-Lacava,A., Dahmen,N., Gallinat,J., Majic,T., Petrovsky,N., Kornhuber,J., Thuerauf,N., Gründer,G., Brinkmeyer,J., Wienker,T., Wagner,M., Winterer,G., and Kiefer,F. (2012). Genetic variation in the neuropeptide Y gene promoter is associated with increased risk of tobacco smoking. Eur Addict Res. 18, 246-252.
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