Publications 2011
Ahmad,A., Daud,S., Kakar,N., Nurnberg,G., Nurnberg,P., Babar,M.E., Thoenes,M., Kubisch,C., Ahmad,J., and Bolz,H.J. (2011). Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. Molecular Vision 17, 1940-1945.
Arweiler-Harbeck,D., Horsthemke,B., Jahnke,K., and Hennies,H.C. (2011). Genetic Aspects of Familial Meniere's Disease. Otology & Neurotology 32, 695-700.
Baasanjav,S., Al-Gazali,L., Hashiguchi,T., Mizumoto,S., Fischer,B., Horn,D., Seelow,D., Ali,B.R., Aziz,S.A.A., Langer,R., Saleh,A.A.H., Becker,C., Nurnberg,G., Cantagrel,V., Gleeson,J.G., Gomez,D., Michel,J.B., Stricker,S., Lindner,T.H., Nurnberg,P., Sugahara,K., Mundlos,S., and Hoffmann,K. (2011). Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects. American Journal of Human Genetics 89, 15-27.
Baig,S.M., Koschak,A., Lieb,A., Gebhart,M., Dafinger,C., Nurnberg,G., Ali,A., Ahmad,I., Sinnegger-Brauns,M.J., Brandt,N., Engel,J., Mangoni,M.E., Farooq,M., Khan,H.U., Nurnberg,P., Striessnig,J., and Bolz,H.J. (2011). Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nature Neuroscience 14, 77-U107.
Blaydon,D.C., Nitoiu,D., Eckl,K.M., Cabral,R.M., Bland,P., Hausser,I., van Heel,D.A., Rajpopat,S., Fischer,J., Oji,V., Zvulunov,A., Traupe,H., Hennies,H.C., and Kelsell,D.P. (2011). Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion. American Journal of Human Genetics 89, 564-571.
Borck,G., Rehman,A.U., Lee,K., Pogoda,H.M., Kakar,N., von Ameln,S., Grillet,N., Hildebrand,M.S., Ahmed,Z.M., Nurnberg,G., Ansar,M., Basit,S., Javed,Q., Morell,R.J., Nasreen,N., Shearer,A.E., Ahmad,A., Kahrizi,K., Shaikh,R.S., Ali,R.A., Khan,S.N., Goebel,I., Meyer,N.C., Kimberling,W.J., Webster,J.A., Stephan,D.A., Schiller,M.R., Bahlo,M., Najmabadi,H., Gillespie,P.G., Nurnberg,P., Wollnik,B., Riazuddin,S., Smith,R.J.H., Ahmad,W., Muller,U., Hammerschmidt,M., Friedman,T.B., Riazuddin,S., Leal,S.M., Ahmad,J., and Kubisch,C. (2011). Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42. American Journal of Human Genetics 88, 127-137.
Breitling,L.P., Muller,H., Illig,T., Rujescu,D., Winterer,G., Dahmen,N., Nitz,B., Raum,E., Rothenbacher,D., and Brenner,H. (2011). Dopamine-related genes and spontaneous smoking cessation in ever-heavy smokers. Pharmacogenomics 12, 1099-1106.
Brinkmeyer,J., Mobascher,A., Musso,F., Schmitz,M., Wagner,M., Frommann,I., Grunder,G., Spreckelmeyer,K.N., Wienker,T., az-Lacava,A., Holler,D., Dahmen,N., Thuerauf,N., Clepce,M., Kiefer,F., de Millas,W., Gallinat,J., and Winterer,G. (2011). P50 sensory gating and smoking in the general population. Addiction Biology 16, 485-498.
Bundschuh,R., Altmuller,J., Becker,C., Nurnberg,P., and Gott,J.M. (2011). Complete characterization of the edited transcriptome of the mitochondrion of Physarum polycephalum using deep sequencing of RNA. Nucleic Acids Research 39, 6044-6055.
Dafinger,C., Liebau,M.C., Elsayed,S.M., Hellenbroich,Y., Boltshauser,E., Korenke,G.C., Fabretti,F., Janecke,A.R., Ebermann,I., Nurnberg,G., Nurnberg,P., Zentgraf,H., Koerber,F., Addicks,K., Elsobky,E., Benzing,T., Schermer,B., and Bolz,H.J. (2011). Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. Journal of Clinical Investigation 121, 2662-2667.
Debrah,A.Y., Batsa,L., Albers,A., Mand,S., Toliat,M.R., Nurnberg,P., Adjei,O., Hoerauf,A., and Pfarr,K. (2011). Transforming growth factor-beta 1 variant Leu10Pro is associated with both lack of microfilariae and differential microfilarial loads in the blood of persons infected with lymphatic filariasis. Human Immunology 72, 1143-1148.
Dolmans,G.H., Werker,P.M., Hennies,H.C., Furniss,D., Festen,E.A., Franke,L., Becker,K., van der Vlies,P., Wolffenbuttel,B.H., Tinschert,S., Toliat,M.R., Nothnagel,M., Franke,A., Klopp,N., Wichmann,H.E., Nurnberg,P., Giele,H., Ophoff,R.A., and Wijmenga,C. (2011). Wnt Signaling and Dupuytren's Disease. New England Journal of Medicine 365, 307-317.
du Moulin,M., Nurnberg,P., Crow,Y.J., and Rutsch,F. (2011). Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations. Proceedings of the National Academy of Sciences of the United States of America 108, E232.
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. (2011). PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome (vol 120, pg 1812, 2011). Journal of Clinical Investigation 121, 821.
Eckl,K.M., Alef,T., Torres,S., and Hennies,H.C. (2011). Full-Thickness Human Skin Models for Congenital Ichthyosis and Related Keratinization Disorders. Journal of Investigative Dermatology 131, 1938-1942.
Fatima,A., Xu,G.X., Shao,K.F., Papadopoulos,S., Lehmann,M., rnaiz-Cot,J.J., Rosa,A.O., Nguemo,F., Matzkies,M., Dittmann,S., Stone,S.L., Linke,M., Zechner,U., Beyer,V., Hennies,H.C., Rosenkranz,S., Klauke,B., Parwani,A.S., Haverkamp,W., Pfitzer,G., Farr,M., Cleemann,L., Morad,M., Milting,H., Hescheler,J., and Saric,T. (2011). In vitro Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells. Cellular Physiology and Biochemistry 28, 579-592.
Fuchs-Telem,D., Stewart,H., Rapaport,D., Nousbeck,J., Gat,A., Gini,M., Lugassy,Y., Emmert,S., Eckl,K., Hennies,H.C., Sarig,O., Goldsher,D., Meilik,B., Ishida-Yamamoto,A., Horowitz,M., and Sprecher,E. (2011). CEDNIK syndrome results from loss-of-function mutations in SNAP29. British Journal of Dermatology 164, 610-616.
Furniss,D., Dolmans,G.H.C.G., and Hennies,H.C. (2011). Genome-Wide Association Scan of Dupuytren's Disease. Journal of Hand Surgery-American Volume 36A, 755-756.
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. (2011). Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol. Pharmacogenetics and Genomics 21, 206-216.
Giegling,I., Drago,A., Schafer,M., Hartmann,A.M., Sander,T., Toliat,M.R., Moller,H.J., De Ronchi,D., Stassen,H.H., Rujescu,D., and Serretti,A. (2011). Lack of association between 71 variations located in candidate genes and response to acute haloperidol treatment. Psychopharmacology 214, 719-728.
Gruber,R., Hennies,H.C., Romani,N., and Schmuth,M. (2011). A Novel Homozygous Missense Mutation in SLURP1 Causing Mal de Meleda With an Atypical Phenotype. Archives of Dermatology 147, 748-750.
Haberlova,J., Mazanec,R., Ridzon,P., Barankova,L., Nurnberg,G., Nurnberg,P., Sticht,H., Huehne,K., Seeman,P., and Rautenstrauss,B. (2011). Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy. Journal of Neurogenetics 25, 182-188.
Heeringa,S.F., Chernin,G., Chaki,M., Zhou,W.B., Sloan,A.J., Ji,Z.M., Xie,L.X., Salviati,L., Hurd,T.W., Vega-Warner,V., Killen,P.D., Raphael,Y., Ashraf,S., Ovunc,B., Schoeb,D.S., McLaughlin,H.M., Airik,R., Vlangos,C.N., Gbadegesin,R., Hinkes,B., Saisawat,P., Trevisson,E., Doimo,M., Casarin,A., Pertegato,V., Giorgi,G., Prokisch,H., Rotig,A., Nurnberg,G., Becker,C., Wang,S., Ozaltin,F., Topaloglu,R., Bakkaloglu,A., Bakkaloglu,S.A., Muller,D., Beissert,A., Mir,S., Berdeli,A., Ozen,S., Zenker,M., Matejas,V., Santos-Ocana,C., Navas,P., Kusakabe,T., Kispert,A., Akman,S., Soliman,N.A., Krick,S., Mundel,P., Reiser,J., Nurnberg,P., Clarke,C.F., Wiggins,R.C., Faul,C., and Hildebrandt,F. (2011). COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. Journal of Clinical Investigation 121, 2013-2024.
Herrmann,A., Haake,A., Ammerpohl,O., Martin-Guerrero,I., Szafranski,K., Stemshorn,K., Nothnagel,M., Kotsopoulos,S.K., Richter,J., Warner,J., Olson,J., Link,D.R., Schreiber,S., Krawczak,M., Platzer,M., Nurnberg,P., Siebert,R., and Hampe,J. (2011). Pipeline for Large-Scale Microdroplet Bisulfite PCR-Based Sequencing Allows the Tracking of Hepitype Evolution in Tumors. Plos One 6.
Huang,L.J., Szymanska,K., Jensen,V.L., Janecke,A.R., Innes,A.M., Davis,E.E., Frosk,P., Li,C.M., Willer,J.R., Chodirker,B.N., Greenberg,C.R., Mcleod,D.R., Bernier,F.P., Chudley,A.E., Muller,T., Shboul,M., Logan,C.V., Loucks,C.M., Beaulieu,C.L., Bowie,R.V., Bell,S.M., Adkins,J., Zuniga,F.I., Ross,K.D., Wang,J., Ban,M.R., Becker,C., Nurnberg,P., Douglas,S., Craft,C.M., Akimenko,M.A., Hegele,R.A., Ober,C., Utermann,G., Bolz,H.J., Bulman,D.E., Katsanis,N., Blacque,O.E., Doherty,D., Parboosingh,J.S., Leroux,M.R., Johnson,C.A., and Boycott,K.M. (2011). TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone. American Journal of Human Genetics 89, 713-730.
Huebner,A.K., Gandia,M., Frommolt,P., Maak,A., Wicklein,E.M., Thiele,H., Altmuller,J., Wagner,F., Vinuela,A., Aguirre,L.A., Moreno,F., Maier,H., Rau,I., Giesselmann,S., Nurnberg,G., Gal,A., Nurnberg,P., Hubner,C.A., Del Castillo,I., and Kurth,I. (2011). Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss. American Journal of Human Genetics 88, 621-627.
Kalay,E., Yigit,G., Aslan,Y., Brown,K.E., Pohl,E., Bicknell,L.S., Kayserili,H., Li,Y., Tuysuz,B., Nurnberg,G., Kiess,W., Koegl,M., Baessmann,I., Buruk,K., Toraman,B., Kayipmaz,S., Kul,S., Ikbal,M., Turner,D.J., Taylor,M.S., Aerts,J., Scott,C., Milstein,K., Dollfus,H., Wieczorek,D., Brunner,H.G., Hurles,M., Jackson,A.P., Rauch,A., Nurnberg,P., Karaguzel,A., and Wollnik,B. (2011). CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nature Genetics 43, 23-26.
Koopmann,A., Dinter,C., Grosshans,M., von der Goltz,C., Hentschel,R., Dahmen,N., Gallinat,J., Wagner,M., Grunder,G., Thurauf,N., Wienker,T., Brinkmeyer,J., Mobascher,A., Spreckelmeyer,K.N., Clepce,M., de Millas,W., Wiedemann,K., Winterer,G., and Kiefer,F. (2011). Psychological and hormonal features of smokers at risk to gain weight after smoking cessation - Results of a multicenter study. Hormones and Behavior 60, 58-64.
Kuchler,S., Henkes,D., Eckl,K.M., Ackermann,K., Plendl,J., Korting,H.C., Hennies,H.C., and Schafer-Korting,M. (2011). Hallmarks of Atopic Skin Mimicked In Vitro by Means of a Skin Disease Model Based on FLG Knock-down. Atla-Alternatives to Laboratory Animals 39, 471-480.
Lenz,B., Sysk,C., Thuerauf,N., Clepce,M., Reich,K., Frieling,H., Winterer,G., Bleich,S., and Kornhuber,J. (2011). NACP-Rep1 relates to Beck Depression Inventory Scores in Healthy Humans. Journal of Molecular Neuroscience 44, 41-47.
Lindenberg,A., Brinkmeyer,J., Dahmen,N., Gallinat,J., de Millas,W., Mobascher,A., Wagner,M., Schulze-Rauschenbach,S., Grunder,G., Spreckelmeyer,K.N., Clepce,M., Thurauf,N., von der Goltz,C., Kiefer,F., Steffens,M., Holler,D., az-Lacava,A., Wienker,T., and Winterer,G. (2011). The German multi-centre study on smoking-related behavior-description of a population-based case-control study. Addiction Biology 16, 638-653.
Loeber,S., Vollstadt-Klein,S., Wilden,S., Schneider,S., Rockenbach,C., Dinter,C., von der Goltz,C., Hermann,D., Wagner,M., Winterer,G., and Kiefer,F. (2011). The effect of pictorial warnings on cigarette packages on attentional bias of smokers. Pharmacology Biochemistry and Behavior 98, 292-298.
Majic,T., Rentzsch,J., Gudlowski,Y., Ehrlich,S., Juckel,G., Sander,T., Lang,U.E., Winterer,G., and Gallinat,J. (2011). COMT Val(108/158)Met genotype modulates human sensory gating. Neuroimage 55, 818-824.
Musso,F., Brinkmeyer,J., Ecker,D., London,M.K., Thieme,G., Warbrick,T., Wittsack,H.J., Saleh,A., Greb,W., de Boer,P., and Winterer,G. (2011). Ketamine effects on brain function - Simultaneous fMRI/EEG during a visual oddball task. Neuroimage 58, 508-525.
Nousbeck,J., Ishida-Yamamoto,A., Bidder,M., Fuchs,D., Eckl,K., Hennies,H.C., Sagiv,N., Gat,A., Gini,M., Filip,I., Matz,H., Goldberg,I., Enk,C.D., Sarig,O., Meilik,B., Aberdam,D., Gilhar,A., and Sprecher,E. (2011). IGFBP7 as a Potential Therapeutic Target in Psoriasis. Journal of Investigative Dermatology 131, 1767-1770.
Pernhorst,K., Raabe,A., Niehusmann,P., van Loo,K.M.J., Grote,A., Hoffmann,P., Cichon,S., Sander,T., Schoch,S., and Becker,A.J. (2011). Promoter Variants Determine gamma-Aminobutyric Acid Homeostasis-Related Gene Transcription in Human Epileptic Hippocampi. Journal of Neuropathology and Experimental Neurology 70, 1080-1088.
Querings,S., Altmuller,J., Ansen,S., Zander,T., Seidel,D., Gabler,F., Peifer,M., Markert,E., Stemshorn,K., Timmermann,B., Saal,B., Klose,S., Ernestus,K., Scheffler,M., Engel-Riedel,W., Stoelben,E., Brambilla,E., Wolf,J., Nurnberg,P., and Thomas,R.K. (2011). Benchmarking of Mutation Diagnostics in Clinical Lung Cancer Specimens. Plos One 6.
Schmid,F., Glaus,E., Barthelmes,D., Fliegauf,M., Gaspar,H., Nurnberg,G., Nurnberg,P., Omran,H., Berger,W., and Neidhardt,J. (2011). U1 snRNA-Mediated Gene Therapeutic Correction of Splice Defects Caused by an Exceptionally Mild BBS Mutation. Human Mutation 32, 815-824.
Seifert,W., Kuhnisch,J., Maritzen,T., Horn,D., Haucke,V., and Hennies,H.C. (2011). Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity. Journal of Biological Chemistry 286, 37665-37675.
Vollstadt-Klein,S., Loeber,S., Winter,S., Lemenager,T., von der Goltz,C., Dinter,C., Koopmann,A., Wied,C., Winterer,G., and Kiefer,F. (2011). Attention Shift towards Smoking Cues Relates to Severity of Dependence, Smoking Behavior and Breath Carbon Monoxide. European Addiction Research 17, 217-224.
Warbrick,T., Mobascher,A., Brinkmeyer,J., Musso,F., Stoecker,T., Shah,N.J., Vossel,S., and Winterer,G. (2011). Direction and magnitude of nicotine effects on the fMRI BOLD response are related to nicotine effects on behavioral performance. Psychopharmacology 215, 333-344.
Weber,S., Thiele,H., Mir,S., Toliat,M.R., Sozeri,B., Reutter,H., Draaken,M., Ludwig,M., Altmuller,J., Frommolt,P., Stuart,H.M., Ranjzad,P., Hanley,N.A., Jennings,R., Newman,W.G., Wilcox,D.T., Thiel,U., Schlingmann,K.P., Beetz,R., Hoyer,P.F., Konrad,M., Schaefer,F., Nurnberg,P., and Woolf,A.S. (2011). Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. American Journal of Human Genetics 89, 668-674.
Weiss,J., Sos,M.L., Seidel,D., Peifer,M., Zander,T., Heuckmann,J.M., Ullrich,R.T., Menon,R., Maier,S., Soltermann,A., Moch,H., Wagener,P., Fischer,F., Heynck,S., Koker,M., Schottle,J., Leenders,F., Gabler,F., Dabow,I., Querings,S., Heukamp,L.C., Balke-Want,H., Ansen,S., Rauh,D., Baessmann,I., Altmuller,J., Wainer,Z., Conron,M., Wright,G., Russell,P., Solomon,B., Brambilla,E., Brambilla,C., Lorimier,P., Sollberg,S., Brustugun,O.T., Engel-Riedel,W., Ludwig,C., Petersen,I., Sanger,J., Clement,J., Groen,H., Timens,W., Sietsma,H., Thunnissen,E., Smit,E., Heideman,D., Cappuzzo,F., Ligorio,C., Damiani,S., Hallek,M., Beroukhim,R., Pao,W., Klebl,B., Baumann,M., Buettner,R., Ernestus,K., Stoelben,E., Wolf,J., Nurnberg,P., Perner,S., and Thomas,R.K. (2011). Frequent and Focal FGFR1 Amplification Associates with Therapeutically Tractable FGFR1 Dependency in Squamous Cell Lung Cancer (vol 2, 62ra93, 2010). Science Translational Medicine 3.