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Publications 2007

Alef,T., Hennies,H.C., Kolberg,S., Torres,S., Hausser,I., Metze,D., Tursen,U., and Lestringant,G.G. (2007). Syndrome of ichthyosis, follicular atrophoderma, and hypotrichosis is associated with loss-of-function mutations in matriptase. J Invest Dermatol. 127 Suppl., S78.

Attanasio,M., Uhlenhaut,N.H., Sousa,V.H., O'Toole,J.F., Otto,E., Anlag,K., Klugmann,C., Treier,A.C., Helou,J., Sayer,J.A., Seelow,D., Nürnberg,G., Becker,C., Chudley,A.E., Nürnberg,P., Hildebrandt,F., and Treier,M. (2007). Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet. 39, 1018-1024.

Aufenvenne,K., Oji,V., Walker,T., Hennies,H.C., Seller,N., Bruckner,P., and Traupe,H. (2007). TGM1 mutations in bathing suit ichthyosis: A functional understanding. J Invest Dermatol. 127 Suppl., S81.

Brinckmann,A., Rüther,K., Williamson,K., Lorenz,B., Lucke,B., Nürnberg,P., Trijbels,F., Janssen,A., and Schuelke,M. (2007). De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease. J Mol Med. 85, 163-168.

Brinckmann,A., Mischung,C., Bässmann,I., Kühnisch,J., Schuelke,M., Tinschert,S., and Nürnberg,P. (2007). Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing. Electrophoresis. 28, 4295-4301.

Bruck,H., Schwerdtfeger,T., Toliat,M., Leineweber,K., Heusch,G., Philipp,T., Nürnberg,P., and Brodde,O.E. (2007). Presynaptic alpha-2C adrenoceptor-mediated control of noradrenaline release in humans: genotype- or age-dependent? Clin Pharmacol Ther. 82, 525-530.

Buch,S., Schafmayer,C., Völzke,H., Becker,C., Franke,A., von Eller-Eberstein,H., Kluck,C., Bässmann,I., Brosch,M., Lammert,F., Miquel,J.F., Nervi,F., Wittig,M., Rosskopf,D., Timm,B., Höll,C., Seeger,M., ElSharawy,A., Lu,T., Egberts,J., Fändrich,F., Fölsch,U.R., Krawczak,M., Schreiber,S., Nürnberg,P., Tepel,J., and Hampe,J. (2007). A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet. 39, 995-999.

Budde,B.S., Binner,P., Waldmüller,S., Höhne,W., Blankenfeldt,W., Hassfeld,S., Brömsen,J., Dermintzoglou,A., Wieczorek,M., May,E., Kirst,E., Selignow,C., Rackebrandt,K., Müller,M., Goody,R.S., Vosberg,H.P., Nürnberg,P., and Scheffold,T. (2007). Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the beta-Myosin Heavy Chain Gene. PLoS ONE. 2, e1362.

Cavalleri,G.L., Walley,N.M., Soranzo,N., Mulley,J., Doherty,C.P., Kapoor,A., Depondt,C., Lynch,J.M., Scheffer,I.E., Heils,A., Gehrmann,A., Kinirons,P., Gandhi,S., Satishchandra,P., Wood,N.W., Anand,A., Sander,T., Berkovic,S.F., Delanty,N., Goldstein,D.B., and Sisodiya,S.M. (2007). A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy. Epilepsia. 48, 706-712.

Cirak,S., Deimling,F.V., Hermann,R., Bonnemann,C., Prive,G., Nurnberg,P., and Voit,T. (2007). Ubiquitin-proteasome pathway alteration in distal myopathy due to a mutation in a novel kelch protein. Eur J Pediatr. 166, 290.

Crisponi,L., Crisponi,G., Meloni,A., Toliat,M.R., Nurnberg,G., Usala,G., Uda,M., Masala,M., Hohne,W., Becker,C., Marongiu,M., Chiappe,F., Kleta,R., Rauch,A., Wollnik,B., Wollnik,B., Strasser,F., Reese,T., Jakobs,C., Kurlemann,G., Cao,A., Nurnberg,P., and Rutsch,F. (2007). Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet. 80, 971-981.

Debrah,A.Y., Mand,S., Toliat,M.R., Marfo-Debrekyei,Y., Batsa,L., Nürnberg,P., Lawson,B., Adjei,O., Hoerauf,A., and Pfarr,K. (2007). Plasma vascular endothelial growth Factor-A (VEGF-A) and VEGF-A gene polymorphism are associated with hydrocele development in lymphatic filariasis. Am J Trop Med Hyg. 77, 601-608.

Debrah,A.Y., Mand,S., Toliat,M.R., Marfo-Debrekyei,Y., Batsa,L., Nuernberg,P., Lawson,B., Adjei,O., Hoerauf,A., and Pfarr,K. (2007). Targeting endosymbiotic Wolbachia in Wuchereria bancrofti reduces plasma VEGF-A and improves condition of hydrocele patients. Am J Trop Med Hyg. 77 Suppl., 112.

Deffke,I., Sander,T., Heidenreich,J., Sommer,W., Curio,G., Trahms,L., and Lueschow,A. (2007). MEG/EEG sources of the 170-ms response to faces are co-localized in the fusiform gyrus. Neuroimage. 35, 1495-1501.

Dempfle,A., Wudy,S.A., Saar,K., Hagemann,S., Friedel,S., Scherag,A., Berthold,L.D., Alzen,G., Gortner,L., Blum,W.F., Hinney,A., Nurnberg,P., Schafer,H., and Hebebrand,J. (2007). Linkage genome scan and subsequent association studies show involvement of the vitamin D receptor gene in idiopathic short stature. Genet Epidemiol. 31, 469.

Detjen,A.K., Tinschert,S., Kaufmann,D., Algermissen,B., Nürnberg,P., and Schuelke,M. (2007). Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1. Twin Res Hum Genet. 10, 486-495.

Dietter,J., Mattheisen,M., Fürst,R., Rüschendorf,F., Wienker,T.F., and Strauch,K. (2007). Linkage analysis using sex-specific recombination fractions with GENEHUNTER-MODSCORE. Bioinformatics. 23, 64-70.

Ebermann,I., Walger,M., Scholl,H.P., Charbel Issa,P., Lüke,C., Nürnberg,G., Lang-Roth,R., Becker,C., Nürnberg,P., and Bolz,H.J. (2007). Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. Hum Mutat. 28, 571-577.

Eckl,K.M., Torres,S., Juanes,S., Metze,D., Krieg,P., and Hennies,H.C. (2007). Functional model systems for congenital ichthyosis: Basic and long way to therapy. J Invest Dermatol. 127 Suppl., S79.

Everett,K., Chioza,B., Aicardi,J., Aschauer,H., Brouwer,O., Callenbach,P., Covanis,A., Dooley,J., Dulac,O., Durner,M., Eeg-Olofsson,O., Feucht,M., Friis,M., Guerrini,R., Heils,A., Kjeldsen,M., Nabbout,R., Sander,T., Wirrell,E., McKeigue,P., Robinson,R., Taske,N., and Gardiner,M. (2007). Linkage and mutational analysis of CLCN2 in childhood absence epilepsy. Epilepsy Res. 75, 145-153.

Everett,K.V., Chioza,B., Aicardi,J., Aschauer,H., Brouwer,O., Callenbach,P., Covanis,A., Dulac,O., Eeg-Olofsson,O., Feucht,M., Friis,M., Goutieres,F., Guerrini,R., Heils,A., Kjeldsen,M., Lehesjoki,A.E., Makoff,A., Nabbout,R., Olsson,I., Sander,T., Sirén,A., McKeigue,P., Robinson,R., Taske,N., Rees,M., and Gardiner,M. (2007). Linkage and association analysis of CACNG3 in childhood absence epilepsy. Eur J Hum Genet. 15, 463-472.

Fagerlund,A., Brillard,J., Fürst,R., Guinebretière,M.H., and Granum,P.E. (2007). Toxin production in a rare and genetically remote cluster of strains of the Bacillus cereus group. BMC Microbiol. 7, 43.

Fehr,C., Sander,T., Hohmann,N., Tadic,A., Dahmen,N., Lieb,K., Lenzen,K., Zill,P., Soyka,M., and Preuss,U. (2007). Synaptosomal gene as candidate gene of the alcohol addiction and alcoholism-acceptor phenotype. Nervenarzt. 78 Suppl., 163.

Fürstenberger,G., Epp,N., Eckl,K.M., Hennies,H.C., Jørgensen,C., Hallenborg,P., Kristiansen,K., and Krieg,P. (2007). Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation. Prostaglandins Other Lipid Mediat. 82, 128-134.

Gallinat,J., Götz,T., Kalus,P., Bajbouj,M., Sander,T., and Winterer,G. (2007). Genetic variations of the NR3A subunit of the NMDA receptor modulate prefrontal cerebral activity in humans. J Cogn Neurosci. 19, 59-68.

Gallinat,J., Sander,T., and Lang,U. (2007). Genetical principles of dysfunctional cerebral activation for smoking. Nervenarzt. 78 Suppl., 313.

Hempelmann,A., Cobilanschi,J., Heils,A., Muhle,H., Stephani,U., Weber,Y., Lerche,H., and Sander,T. (2007). Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy. Epilepsy Res. 74, 28-32.

Hoffmann,K., Mattheisen,M., Dahm,S., Nürnberg,P., Roe,C., Johnson,J., Cox,N.J., Wichmann,H.E., Wienker,T.F., Schulze,J., Schwarz,P.E., and Lindner,T.H. (2007). A German genome-wide linkage scan for type 2 diabetes supports the existence of a metabolic syndrome locus on chromosome 1p36.13 and a type 2 diabetes locus on chromosome 16p12.2. Diabetologia. 50, 1418-1422.

Hoyer,J., Dreweke,A., Becker,C., Göhring,I., Thiel,C.T., Peippo,M.M., Rauch,R., Hofbeck,M., Trautmann,U., Zweier,C., Zenker,M., Hüffmeier,U., Kraus,C., Ekici,A.B., Rüschendorf,F., Nürnberg,P., Reis,A., and Rauch,A. (2007). Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet. 44, 629-636.

Ioana Braicu,E., Mustea,A., Toliat,M.R., Pirvulescu,C., Könsgen,D., Sun,P., Nürnberg,P., Lichtenegger,W., and Sehouli,J. (2007). Polymorphism of IL-1alpha, IL-1beta and IL-10 in patients with advanced ovarian cancer: results of a prospective study with 147 patients. Gynecol Oncol. 104, 680-685.

Jenkins,D., Seelow,D., Jehee,F.S., Perlyn,C.A., Alonso,L.G., Bueno,D.F., Donnai,D., Josifova,D., Josifiova,D., Mathijssen,I.M., Morton,J.E., Orstavik,K.H., Sweeney,E., Wall,S.A., Marsh,J.L., Nurnberg,P., Passos-Bueno,M.R., and Wilkie,A.O. (2007). RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet. 80, 1162-1170.

Kalay,E., Uzumcu,A., Krieger,E., Caylan,R., Uyguner,O., Ulubil-Emiroglu,M., Erdol,H., Kayserili,H., Baserer,N., Heister,A.J.G.M., Hennies,H.C., Nurnberg,P., Basaran,S., Brunner,H.G., Cremers,C.W.R.J., Karaguzel,A., Wollnik,B., Wollnik,B., and Kremer,H. (2007). MY015A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A. 143A, 2382-2389.

Kalay,E., Uzumcu,A., Krieger,E., Caylan,R., Uyguner,O., Ulubil-Emiroglu,M., Erdol,H., Kayserili,H., Hafiz,G., erer,N., Heister,A.J., Hennies,H.C., Nürnberg,P., aran,S., Brunner,H.G., Cremers,C.W., Karaguzel,A., Wollnik,B., and Kremer,H. (2007). MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A. 143, 2382-2389.

Knöll,R., Postel,R., Wang,J., Krätzner,R., Hennecke,G., Vacaru,A.M., Vakeel,P., Schubert,C., Murthy,K., Rana,B.K., Kube,D., Knöll,G., Schäfer,K., Hayashi,T., Holm,T., Kimura,A., Schork,N., Toliat,M.R., Nürnberg,P., Schultheiss,H.P., Schaper,W., Schaper,J., Bos,E., Den Hertog,J., van Eeden,F.J., Peters,P.J., Hasenfuss,G., Chien,K.R., and Bakkers,J. (2007). Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. Circulation. 116, 515-525.

Kuhnisch,J., Lobner,J., Stumpp,S., Epari,D., Giehl,M., Thiele,H., Felsenberg,D., Nurnberg,P., Mundlos,S., and Kornak,U. (2007). Reduced plasma membrane access of ANK causes craniometaphyseal dysplasia. Calcif Tissue Int. 80 Suppl., S80.

Lang,T., Janke,D., Mehralivand,S., Shamsinejad,M., Strand,D., Godtel-Armbrust,U., Habermeier,A., Gradhand,U., Fischer,C., Toliat,M.R., Fritz,P., Zanger,U.M., Schwab,M., Fromm,M.F., Nurnberg,P., Closs,E.I., and Wojnowski,L. (2007). Missense mutations in the multidrug resistance-associated protein 2 (MRP2/ABCC2) and 4 (MRP4/ABCC4): impact on protein expression and drug tansport. Basic Clin Pharmacol Toxicol. 101, 377.

Lang,U.E., Sander,T., Lohoff,F.W., Hellweg,R., Bajbouj,M., Winterer,G., and Gallinat,J. (2007). Association of the met66 allele of brain-derived neurotrophic factor (BDNF) with smoking. Psychopharmacology (Berl). 190, 433-439.

Lang,U.E., Bajbouj,M., Sander,T., and Gallinat,J. (2007). Gender-dependent association of the functional catechol-O-methyltransferase Val158Met genotype with sensation seeking personality trait. Neuropsychopharmacology. 32, 1950-1955.

Leach,N.T., Sun,Y., Michaud,S., Zheng,Y., Ligon,K.L., Ligon,A.H., Sander,T., Korf,B.R., Lu,W., Harris,D.J., Gusella,J.F., Maas,R.L., Quade,B.J., Cole,A.J., Kelz,M.B., and Morton,C.C. (2007). Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. Am J Hum Genet. 80, 792-799.

Leistner,S., Scheer,H.J., Sander,T., Burghoff,M., Trahms,L., Curio,G., and Mackert,B.M. (2007). Recording of focal direct current (DC) changes in the human cerebral cortex using refined non-invasive DC-EEG methodology. Biomed Tech (Berl). 52, 102-105.

Leistner,S., Sander,T., Burghoff,M., Curio,G., Trahms,L., and Mackert,B.M. (2007). Combined MEG and EEG methodology for non-invasive recording of infraslow activity in the human cortex. Clin Neurophysiol. 118, 2774-2780.

Lorenz,S., Heils,A., Kasper,J.M., and Sander,T. (2007). Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy. Am J Med Genet B Neuropsychiatr Genet. 144, 10-13.

Merkl,A., Sander,T., Aust,S., Ropke,S., Reinecker,H., Trahms,L., and Heuser,I. (2007). Time course of perception in facial expression of emotion in borderline personality disorder (BPD): A magnetoncephalographic (MEG) study. Biol Psychiatry. 61 Suppl., 153S.

Muller,C., Schmidt,E., Traupe,H., Hausser,I., Hennies,H.C., Oji,V., Brocker,E.B., and Hamm,H. (2007). Distinct transglutaminase-1-negative lamellar ichthyosis in a 9-year-old boy. Klin Padiatr. 219, 120.

Myles,S., Hradetzky,E., Engelken,J., Lao,O., Nürnberg,P., Trent,R.J., Wang,X., Kayser,M., and Stoneking,M. (2007). Identification of a candidate genetic variant for the high prevalence of type II diabetes in Polynesians. Eur J Hum Genet. 15, 584-589.

Nenci,A., Becker,C., Wullaert,A., Gareus,R., van Loo,G., Danese,S., Huth,M., Nikolaev,A., Neufert,C., Madison,B., Gumucio,D., Neurath,M.F., and Pasparakis,M. (2007). Epithelial NEMO links innate immunity to chronic intestinal inflammation. Nature. 446, 557-561.

Neubauer,B., Waldegger,S., Hahn,A., Eberhardt,F., Kurlemann,G., Garkisch,S., Muller,U., Stephani,U., and Sander,T. (2007). KCNQ3 and KCNQ2 mutations contribute to rare and common forms of idiopathic epilepsy. Epilepsia. 48 Suppl., 7.

Nothnagel,M., Wollstein,A., and Krawczak,M. (2007). Comparative assessment of the association information captured by SNP tagging. Hum Hered. 64, 27-34.

Pasutto,F., Sticht,H., Hammersen,G., Gillessen-Kaesbach,G., Fitzpatrick,D.R., Nürnberg,G., Brasch,F., Schirmer-Zimmermann,H., Tolmie,J.L., Chitayat,D., Houge,G., Fernández-Martínez,L., Keating,S., Mortier,G., Hennekam,R.C., von der Wense,A., Slavotinek,A., Meinecke,P., Bitoun,P., Becker,C., Nürnberg,P., Reis,A., and Rauch,A. (2007). Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet. 80, 550-560.

Ruf,N., Bähring,S., Galetzka,D., Pliushch,G., Luft,F.C., Nürnberg,P., Haaf,T., Kelsey,G., and Zechner,U. (2007). Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human. Hum Mol Genet. 16, 2591-2599.

Rutsch,F., Gailus,S., Marquardt,T., Fowler,B., Nurnberg,P., and Rosenblatt,D.S. (2007). Genome wide linkage for cobalamin F disease. J Inherit Metab Dis. 30 Suppl., 134.

Rutsch,F., Crisponi,L., Meloni,A., Toliat,M.R., Nurnberg,G., Usala,G., Uda,M., Masala,M., Hohne,W., Becker,C., Marangiu,M., Chiappe,F., Kleta,R., Rauch,A., Wollnik,B., Strasser,F., Reese,T., Jakobs,C., Kurlemann,G., Cao,A., Nurenberg,P., and Crisponi,G. (2007). Crisponi syndrome and cold-induced sweating syndrome type 1: Two faces of the same coin. J Inherit Metab Dis. 30 Suppl., 142.

Schirmer,M., Rosenberger,A., Klein,K., Kulle,B., Toliat,M.R., Nürnberg,P., Zanger,U.M., and Wojnowski,L. (2007). Sex-dependent genetic markers of CYP3A4 expression and activity in human liver microsomes. Pharmacogenomics. 8, 443-453.

Schmack,K., Schlagenhauf,F., Wrase,J., Puls,I., Sander,T., Gallinat,J., and Heinz,A. (2007). Effect of genotypes of the NR3A-subunit of the NMDA-receptors on the volume of the prefrontal cortex for schizophrenic patients and health controls. Nervenarzt. 78 Suppl., 298.

Seifert,W. (2007). Are pharma pipelines sustainable? A prediction of future pharma output. Basic Clin Pharmacol Toxicol. 101, 388.

Timmann,C., Evans,J.A., Konig,I.R., Kleensang,A., Ruschendorf,F., Lenzen,J., Sievertsen,J., Becker,C., Enuameh,Y., Kwakye,K.O., Opoku,E., Browne,E.N.L., Ziegler,A., Nurnberg,P., and Horstmann,R.D. (2007). Genome-wide linkage analysis of malaria infection intensity and mild disease. PLoS Genet. 3, 393-400.

Timmann,C., Evans,J.A., König,I.R., Kleensang,A., Rüschendorf,F., Lenzen,J., Sievertsen,J., Becker,C., Enuameh,Y., Kwakye,K.O., Opoku,E., Browne,E.N., Ziegler,A., Nürnberg,P., and Horstmann,R.D. (2007). Genome-wide linkage analysis of malaria infection intensity and mild disease. PLoS Genet. 3, e48.

Uyguner,O., Kayserili,H., Li,Y., Karaman,B., Nürnberg,G., Hennies,H., Becker,C., Nürnberg,P., aran,S., Apak,M.Y., and Wollnik,B. (2007). A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. Clin Genet. 71, 212-219.

Voit,T., Cirak,S., Abraham,S., Karakesisoglou,I., Parano,E., Pavone,P., Falsaperia,R., Amthor,H., Schroeder,J., Muntoni,F., Guicheney,P., Nurnberg,P., Noegel,A., and Herrmann,R. (2007). Congenital muscular dystrophy with adducted thumbs, mental retardation, cerebellar hypoplasia and cataracts is caused by mutation of Enaptin (Nesprin-1): The third nuclear envelopathy with muscular dystrophy. Neuromuscul Disord. 17, 833-834.

Vormfelde,S.V., Sehrt,D., Toliat,M.R., Schirmer,M., Meineke,I., Tzvetkov,M., Nürnberg,P., and Brockmöller,J. (2007). Genetic variation in the renal sodium transporters NKCC2, NCC, and ENaC in relation to the effects of loop diuretic drugs. Clin Pharmacol Ther. 82, 300-309.

Vormfelde,S.V., Schirmer,M., Toliat,M.R., Meineke,I., Kirchheiner,J., Nürnberg,P., and Brockmöller,J. (2007). Genetic variation at the CYP2C locus and its association with torsemide biotransformation. Pharmacogenomics J. 7, 200-211.

Vormfelde,S.V., Toliat,M.R., Schirmer,M., Meineke,I., Nurnberg,P., and Brockmoller,J. (2007). OATP1B1 polymorphisms and torsemide pharmacokinetics and pharmacodynamics. Basic Clin Pharmacol Toxicol. 101, 384.

Weber,S., Schaller,A., Waldegger,S., Gallati,S., Nurnberg,P., and Konrad,M. (2007). Mutations in CLDN19 are associated with renal magnesium wasting and severe ocular involvement. Eur J Pediatr. 166, 278.

Winterer,G., Musso,F., Konrad,A., Vucurevic,G., Stoeter,P., Sander,T., and Gallinat,J. (2007). Association of attentional network function with exon 5 variations of the CHRNA4 gene. Hum Mol Genet. 16, 2165-2174.

Wjst,M., Altmüller,J., Braig,C., Bahnweg,M., and André,E. (2007). A genome-wide linkage scan for 25-OH-D(3) and 1,25-(OH)2-D3 serum levels in asthma families. J Steroid Biochem Mol Biol. 103, 799-802.

Wollstein,A., Herrmann,A., Wittig,M., Nothnagel,M., Franke,A., Nürnberg,P., Schreiber,S., Krawczak,M., and Hampe,J. (2007). Efficacy assessment of SNP sets for genome-wide disease association studies. Nucleic Acids Res. 35, e113.

Zander,T., Furst,R., Franklin,J., Hampe,J., Numberg,P., Schreiber,S., Wolf,J., Diehl,V., Thomas,R.K., and Re,D. (2007). Analysis of genetic predisposition to hematotoxicity in Hodgkin Lymphoma patients. Haematologica Hematol J. 92 Suppl., 13.

Zweier,C., Peippo,M.M., Hoyer,J., Sousa,S., Bottani,A., Clayton-Smith,J., Reardon,W., Saraiva,J., Cabral,A., Gohring,I., Devriendt,K., de Ravel,T., Bijlsma,E.K., Hennekam,R.C., Orrico,A., Cohen,M., Dreweke,A., Reis,A., Nurnberg,P., and Rauch,A. (2007). Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet. 80, 994-1001.