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Publications 2009

Chioza,B.A., Aicardi,J., Aschauer,H., Brouwer,O., Callenbach,P., Covanis,A., Dooley,J.M., Dulac,O., Durner,M., Eeg-Olofsson,O., Feucht,M., Friis,M.L., Guerrini,R., Kjeldsen,M.J., Nabbout,R., Nashef,L., Sander,T., Sirén,A., Wirrell,E., McKeigue,P., Robinson,R., Gardiner,R.M., and Everett,K.V. (2009). Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. Epilepsy Res. 87, 247-255.

Chung,B.D., Kayserili,H., Ai,M., Freudenberg,J., Uzumcu,A., Uyguner,O., Bartels,C.F., Honing,S., Ramirez,A., Hanisch,F.G., Nurnberg,G., Nurnberg,P., Warman,M.L., Wollnik,B., Kubisch,C., and Netzer,C. (2009). A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats. Hum Mutat. 30, 641-648.

Dathe,K., Kjaer,K.W., Brehm,A., Meinecke,P., Nurnberg,P., Neto,J.C., Brunoni,D., Tommerup,N., Ott,C.E., Klopocki,E., Seemann,P., and Mundlos,S. (2009). Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet. 84, 483-492.

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.

Dibbens,L.M., Mullen,S., Helbig,I., Mefford,H.C., Bayly,M.A., Bellows,S., Leu,C., Trucks,H., Obermeier,T., Wittig,M., Franke,A., Caglayan,H., Yapici,Z., Sander,T., Eichler,E.E., Scheffer,I.E., Mulley,J.C., and Berkovic,S.F. (2009). Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet. 18, 3626-3631.

El-Harith,e.H., Roesl,C., Ballmaier,M., Germeshausen,M., Frye-Boukhriss,H., von Neuhoff,N., Becker,C., Nürnberg,G., Nürnberg,P., Ahmed,M.A., Hübener,J., Schmidtke,J., Welte,K., and Stuhrmann,M. (2009). Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. Br J Haematol. 144, 185-194.

Hansen,L., Mikkelsen,A., Nurnberg,P., Nurnberg,G., Anjum,I., Eiberg,H., and Rosenberg,T. (2009). Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci. 50, 3291-3303.

Haug,K., Warnstedt,M., Alekov,A.K., Sander,T., Ramirez,A., Poser,B., Maljevic,S., Hebeisen,S., Kubisch,C., Rebstock,J., Horvath,S., Hallmann,K., Dullinger,J.S., Rau,B., Haverkamp,F., Beyenburg,S., Schulz,H., Janz,D., Giese,B., Muller-Newen,G., Propping,P., Elger,C.E., Fahlke,C., and Lerche,H. (2009). Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet. 41, 1043.

Heinz-Erian,P., Muller,T., Krabichler,B., Schranz,M., Becker,C., Ruschendorf,F., Nurnberg,P., Rossier,B., Vujic,M., Booth,I.W., Holmberg,C., Wijmenga,C., Grigelioniene,G., Kneepkens,C.M., Rosipal,S., Mistrik,M., Kappler,M., Michaud,L., Doczy,L.C., Siu,V.M., Krantz,M., Zoller,H., Utermann,G., and Janecke,A.R. (2009). Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet. 84, 188-196.

Helbig,I., Mefford,H.C., Sharp,A.J., Guipponi,M., Fichera,M., Franke,A., Muhle,H., de,K.C., Baker,C., von,S.S., Kron,K.L., Steinich,I., Kleefuss-Lie,A.A., Leu,C., Gaus,V., Schmitz,B., Klein,K.M., Reif,P.S., Rosenow,F., Weber,Y., Lerche,H., Zimprich,F., Urak,L., Fuchs,K., Feucht,M., Genton,P., Thomas,P., Visscher,F., de Haan,G.J., Moller,R.S., Hjalgrim,H., Luciano,D., Wittig,M., Nothnagel,M., Elger,C.E., Nurnberg,P., Romano,C., Malafosse,A., Koeleman,B.P., Lindhout,D., Stephani,U., Schreiber,S., Eichler,E.E., and Sander,T. (2009). 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet. 41, 160-162.

Henneke,M., Diekmann,S., Ohlenbusch,A., Kaiser,J., Engelbrecht,V., Kohlschutter,A., Kratzner,R., Madruga-Garrido,M., Mayer,M., Opitz,L., Rodriguez,D., Ruschendorf,F., Schumacher,J., Thiele,H., Thoms,S., Steinfeld,R., Nurnberg,P., and Gartner,J. (2009). RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet. 41, 773-775.

Hildebrandt,F., Heeringa,S.F., Ruschendorf,F., Attanasio,M., Nurnberg,G., Becker,C., Seelow,D., Huebner,N., Chernin,G., Vlangos,C.N., Zhou,W., O'Toole,J.F., Hoskins,B.E., Wolf,M.T., Hinkes,B.G., Chaib,H., Ashraf,S., Schoeb,D.S., Ovunc,B., Allen,S.J., Vega-Warner,V., Wise,E., Harville,H.M., Lyons,R.H., Washburn,J., Macdonald,J., Nurnberg,P., and Otto,E.A. (2009). A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet. 5, e1000353.

Hoffmann,K., Planitz,C., Ruschendorf,F., Muller-Myhsok,B., Stassen,H.H., Lucke,B., Mattheisen,M., Stumvoll,M., Bochmann,R., Zschornack,M., Wienker,T.F., Nurnberg,P., Reis,A., Luft,F.C., and Lindner,T.H. (2009). A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany. J Hypertens. 27, 983-990.

Iseri,S.U., Osborne,R.J., Farrall,M., Wyatt,A.W., Mirza,G., Nurnberg,G., Kluck,C., Herbert,H., Martin,A., Hussain,M.S., Collin,J.R., Lathrop,M., Nurnberg,P., Ragoussis,J., and Ragge,N.K. (2009). Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. Hum Mutat. 30, 1378-1386.

Karsak,M., Malkin,I., Toliat,M.R., Kubisch,C., Nurnberg,P., Zimmer,A., and Livshits,G. (2009). The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample. Hum Genet. [Epub ahead of print].

Kemp,C., Thiele,H., Dankof,A., Schmidt,G., Lauster,C., Fernahl,G., and Lauster,R. (2009). Cleft lip and/or palate with monogenic autosomal recessive transmission in Pyrenees shepherd dogs. Cleft Palate Craniofac J. 46, 81-88.

Kleefuss-Lie,A., Friedl,W., Cichon,S., Haug,K., Warnstedt,M., Alekov,A., Sander,T., Ramirez,A., Poser,B., Maljevic,S., Hebeisen,S., Kubisch,C., Rebstock,J., Horvath,S., Hallmann,K., Dullinger,J.S., Rau,B., Haverkamp,F., Beyenburg,S., Schulz,H., Janz,D., Giese,B., Muller-Newen,G., Propping,P., Elger,C.E., Fahlke,C., and Lerche,H. (2009). CLCN2 variants in idiopathic generalized epilepsy. Nat Genet. 41, 954-955.

Kurth,I., Pamminger,T., Hennings,J.C., Soehendra,D., Huebner,A.K., Rotthier,A., Baets,J., Senderek,J., Topaloglu,H., Farrell,S.A., Nürnberg,G., Nürnberg,P., De Jonghe,P., Gal,A., Kaether,C., Timmerman,V., and Hübner,C.A. (2009). Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet. 41, 1179-1181.

Lang,U.E., Hellweg,R., Sander,T., and Gallinat,J. (2009). The Met allele of the BDNF Val66Met polymorphism is associated with increased BDNF serum concentrations. Mol Psychiatry. 14, 120-122.

Leroy,B.P., Budde,B.S., Wittmer,M., De Baere,E., Berger,W., and Zeitz,C. (2009). A common NYX mutation in Flemish patients with X linked CSNB. Br J Ophthalmol. 93, 692-696.

Loges,N.T., Olbrich,H., Becker-Heck,A., Häffner,K., Heer,A., Reinhard,C., Schmidts,M., Kispert,A., Zariwala,M.A., Leigh,M.W., Knowles,M.R., Zentgraf,H., Seithe,H., Nürnberg,G., Nürnberg,P., Reinhardt,R., and Omran,H. (2009). Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet. 85, 883-889.

Lu,T.T., Lao,O., Nothnagel,M., Junge,O., Freitag-Wolf,S., Caliebe,A., Balascakova,M., Bertranpetit,J., Bindoff,L.A., Comas,D., Holmlund,G., Kouvatsi,A., Macek,M., Mollet,I., Nielsen,F., Parson,W., Palo,J., Ploski,R., Sajantila,A., Tagliabracci,A., Gether,U., Werge,T., Rivadeneira,F., Hofman,A., Uitterlinden,A.G., Gieger,C., Wichmann,H.E., Ruether,A., Schreiber,S., Becker,C., Nurnberg,P., Nelson,M.R., Kayser,M., and Krawczak,M. (2009). An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population. Eur J Hum Genet. 17, 967-975.

Megarbane,A., Slim,R., Nurnberg,G., Ebermann,I., Nurnberg,P., and Bolz,H.J. (2009). A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. Eur J Hum Genet. 17, 1076-1079.

Metherell,L.A., Naville,D., Halaby,G., Begeot,M., Huebner,A., Nurnberg,G., Nurnberg,P., Green,J., Tomlinson,J.W., Krone,N.P., Lin,L., Racine,M., Berney,D.M., Achermann,J.C., Arlt,W., and Clark,A.J. (2009). Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol. Metab. 94, 3865-3871.

Muhammad,F., Mahmood,B.S., Hansen,L., Sajid,H.M., Anjum,I., I, Aslam,M., Anver,Q.J., Toilat,M., Kirst,E., Wajid,M., Nurnberg,P., Eiberg,H., Tommerup,N., and Kjaer,K.W. (2009). Compound heterozygous ASPM mutations in Pakistani MCPH families. Am J Med Genet A. 149A, 926-930.

Neuhaus,A.H., Opgen-Rhein,C., Urbanek,C., Hahn,E., Ta,T.M., Seidelsohn,M., Strathmann,S., Kley,F., Wieseke,N., Sander,T., and Dettling,M. (2009). COMT Val 158 Met polymorphism is associated with cognitive flexibility in a signal discrimination task in schizophrenia. Pharmacopsychiatry. 42, 141-144.

Otto,E.A., Tory,K., Attanasio,M., Zhou,W., Chaki,M., Paruchuri,Y., Wise,E.L., Wolf,M.T., Utsch,B., Becker,C., Nurnberg,G., Nurnberg,P., Nayir,A., Saunier,S., Antignac,C., and Hildebrandt,F. (2009). Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J Med Genet. 46, 663-670.

Preuschhof,C., Heekeren,H.R., Li,S.C., Sander,T., Lindenberger,U., and Backman,L. (2009). KIBRA and CLSTN2 polymorphisms exert interactive effects on human episodic memory. Neuropsychologia. 48, 402-408.

Puk,O., Esposito,I., Soker,T., Loster,J., Budde,B., Nurnberg,P., Michel-Soewarto,D., Fuchs,H., Wolf,E., Hrabe de,A.M., and Graw,J. (2009). A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: a novel model for dry-eye disease? Invest Ophthalmol. Vis. Sci. 50, 4311-4318.

Rakovic,A., Stiller,B., Djarmati,A., Flaquer,A., Freudenberg,J., Toliat,M.R., Linnebank,M., Kostic,V., Lohmann,K., Paus,S., Nurnberg,P., Kubisch,C., Klein,C., Wullner,U., and Ramirez,A. (2009). Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease. Mov Disord. 24, 429-433.

Reversade,B., Escande-Beillard,N., Dimopoulou,A., Fischer,B., Chng,S.C., Li,Y., Shboul,M., Tham,P.Y., Kayserili,H., Al-Gazali,L., Shahwan,M., Brancati,F., Lee,H., O'Connor,B.D., Schmidt-von,K.M., Merriman,B., Nelson,S.F., Masri,A., Alkazaleh,F., Guerra,D., Ferrari,P., Nanda,A., Rajab,A., Markie,D., Gray,M., Nelson,J., Grix,A., Sommer,A., Savarirayan,R., Janecke,A.R., Steichen,E., Sillence,D., Hausser,I., Budde,B., Nurnberg,G., Nurnberg,P., Seemann,P., Kunkel,D., Zambruno,G., Dallapiccola,B., Schuelke,M., Robertson,S., Hamamy,H., Wollnik,B., Van,M.L., Mundlos,S., and Kornak,U. (2009). Mutations in PYCR1 cause cutis laxa with progeroid features. Nat. Genet. 41, 1016-1021.

Rutsch,F., Gailus,S., Miousse,I.R., Suormala,T., Sagne,C., Toliat,M.R., Nurnberg,G., Wittkampf,T., Buers,I., Sharifi,A., Stucki,M., Becker,C., Baumgartner,M., Robenek,H., Marquardt,T., Hohne,W., Gasnier,B., Rosenblatt,D.S., Fowler,B., and Nurnberg,P. (2009). Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet. 41, 234-239.

Seelow,D., Schuelke,M., Hildebrandt,F., and Nurnberg,P. (2009). HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res. 37, W593-W599.

Seifert,W., Holder-Espinasse,M., Kühnisch,J., Kahrizi,K., Tzschach,A., Garshasbi,M., Najmabadi,H., Walter Kuss,A., Kress,W., Laureys,G., Loeys,B., Brilstra,E., Mancini,G.M., Dollfus,H., Dahan,K., Apse,K., Christian Hennies,H., and Horn,D. (2009). Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mutat. 30, E404-E420.

Siddiqui,R.A., Sauermann,U., Altmuller,J., Fritzer,E., Nothnagel,M., Dalibor,N., Fellay,J., Kaup,F.J., Stahl-Hennig,C., Nurnberg,P., Krawczak,M., and Platzer,M. (2009). X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women. Am J Hum Genet. 85, 228-239.

Todt,U., Netzer,C., Toliat,M., Heinze,A., Goebel,I., Nurnberg,P., Gobel,H., Freudenberg,J., and Kubisch,C. (2009). New genetic evidence for involvement of the dopamine system in migraine with aura. Hum Genet. 125, 265-279.

Twigg,S.R., Versnel,S.L., Nurnberg,G., Lees,M.M., Bhat,M., Hammond,P., Hennekam,R.C., Hoogeboom,A.J., Hurst,J.A., Johnson,D., Robinson,A.A., Scambler,P.J., Gerrelli,D., Nurnberg,P., Mathijssen,I.M., and Wilkie,A.O. (2009). Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet. 84, 698-705.

zur Stadt,U., Rohr,J., Seifert,W., Koch,F., Grieve,S., Pagel,J., Strauss,J., Kasper,B., Nürnberg,G., Becker,C., Maul-Pavicic,A., Beutel,K., Janka,G., Griffiths,G., Ehl,S., and Hennies,H.C. (2009). Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet. 85, 482-492.