Center for Molecular Medicine Cologne

Bodo Beck / Janine Altmüller - C 1

Rare renal disorders identify core aspects of renal homeostasis - an integral approach to discover fundamental molecular principles of the kidney

The project represents an innovative approach to utilize genomic profiling in Rare Kidney Disease (RKD) in order to identify new causative genes and genotypes, gain knowledge about fundamental aspects of kidney homeostasis, and improve our understanding of the genomic basis of renal disease. We aim to provide missing links that change our perception of (molecular) renal physiology in health and disease.

Introduction

Nearly all children/adolescents and at least 10% of adults requiring dialysis and renal transplantation suffer from rare kidney diseases (RKD). The fact that many RKD entities are genetically heterogenous together with the phenotypic overlap complicates descriptive assessment by clinical, imaging, and histopathology studies. These problems can be overcome by genomic profiling approaches and advanced bioinformatic analyses. Now, timely detection of causative variants even in sporadic cases is technically feasible. Genetic research therefore has not merely produced important insights into the genetic basis of Mendelian disease, but has also led to profound insights into the physiology of the kidney.

Complete assembly of the VNTR in ADTKD-MUC1

The Mucin-1 (MUC1) gene has been identified as a causal gene of autosomal dominant tubulo-interstitial kidney disease (ADTKD). Most causative mutations are buried within a GC-rich 60 basepair variable number of tandem repeat (VNTR), which escapes identification by conventional or parallel sequencing due to the complexity of the VNTR.

We established long read single molecule sequencing targeted to the MUC1-VNTR as an alternative strategy to the snapshot assay. Our approach allows complete VNTR assembly, thereby enabling the detection of all variants residing within the VNTR as well as determination of VNTR length (Figure 1). We confirmed the diagnosis in all previously tested cases, reconstruct both VNTR alleles and determine the exact position of the causative variant in eight of nine families.

Functional studies on MAGED2

We recently discovered mutations in the X-chromosomal MAGED2 gene as a novel cause for a transient form of antenatal Bartter-syndrome with severe polyhydramnios leading to prematurity and an increased risk for stillbirth. Besides several mutations affecting correct mRNA splicing, we identified a missense mutation (R446C) resulting in the expression of a full-length-protein. Subcellular fractionation as well as immunostaining experiments revealed altered protein MAGED2 localization within HEK293T and Cos-7 cells. We analysed interaction partners of MAGED2 via interactome and co-immunoprecipitation experiments and identified GNAS that binds wild-type but not R446C-MAGED2 protein. GNAS encodes the alpha-subunit of the stimulatory G protein (Gsα), which is a signaling protein able to increase NKCC2 and NCC expression and maturation via a cAMP-dependent pathway. As GNAS knock-out in mice had already been shown to result in impaired membrane expression of NKCC2, this could represent a pathomechanism of MAGED2 loss.

Analysis of structural variations within the complement factor H gene cluster on chr 1q32

Hemolytic uremic syndrome (HUS) is a rare but severe disease that belongs to a group of thrombotic microangiopathies (TMA) and arises from an initial endothelial cell injury. The atypical form (aHUS) is a consequence of the deregulation of the alternative pathway of the complement system and many mutations in the complement genes including structural variations have been detected already. Using the Molecular Combing Technology from Genomic Vision we designed probes to detect structural variations within the regulators of complement activation (RCA) cluster. We were able to receive a full haplotype view, that can close the gap of structural aberration detection in this region characterized by high sequence homology.

Biomarker discovery in kidney diseases

So far, no reliable biomarkers for screening, diagnostic, monitoring and therapy efficacy purposes have been successfully established in RKD. The investigation of cell free-DNA (cfDNA) in blood and urine is a promising approach for biomarker discovery, as cfDNA is obtainable from minimally or non-invasive procedures. Analyzing epi-genomic marks in cfDNA is a challenging task, for low abundance, little fragment size, and a short half-life. Nevertheless, precise measures of methylation profiles in promoter regions of genes exclusively transcribed in renal tissue and cell-type specific nucleosome footprints could qualify as biomarker.

Perspectives

A precision diagnosis is the first step toward development of precision medicine approaches for individuals suffering from rare diseases. Due to the advances in sequencing technology and bio-informatics, genomic profiling is today a fast and economic approach to start investigations on hereditary disease. With help of the CMMC funding our group provides integral support for RKD way beyond standard diagnostics. We connect with all clinicians and researchers interested in the kidney disease to improve patient care even if the disease is beyond curative treatment- which can change due to breakthroughs in biotechnology any day, once a definite genetic diagnosis has been made.

Selected publications

1. Staubach S, Wenzel A, Beck BB, Rinschen MM, Müller S, Hanisch FG. (2018) Autosomal Tubulointerstitial Kidney Disease-MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells. Proteomics. Apr;18(7):e1700456. 

2. Wenzel A, Altmueller J,…, Huettel B*, Beck BB* (2018). Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations. Sci Rep. Mar 8;8(1):4170. 

3. Živná M, Kidd K,…, Wenzel A, Beck BB,…, Bleyer AJ, Kmoch S. (2018) Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease. J Am Soc Nephrol. Sep;29(9):2418-2431. 

4. Knaup KX,…, Wenzel A,…, Beck BB,…, Wiesener MS (2018). Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition. J Am Soc Nephrol.  Sep;29(9):2298-2309.

5. Braun DA,..., Altmüller J,..., Hildebrandt F (2018). Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.J Clin Invest. Oct 1;128(10):4313-4328.

6. Choi YJ, Halbritter J,…, Körber F, Sethi SK, Lifton RP, Beck BB, Apte SS, Gee HY, Hildebrandt F (2019). Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. Am J Hum Genet.  Jan 3;104(1):45-54. 

7. Lahrouchi N,..., Altmueller J,..., Sefiani A (2019). Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.Nat Commun. Mar 12;10(1):1180. 

8. Arthuis CJ,…, Beck BB,…, Winer N, Isidor B (2018). A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant. J Obstet Gynaecol.  Jun 12:1-3.

Arthuis, C.J., Nizon, M., Komhoff, M., Beck, B.B., Riehmer, V., Bihouee, T., Bruel, A., Benbrik, N., Winer, N., and Isidor, B. (2019). A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant. J Obstet Gynaecol 39, 395-7.

Bauer, C.K., Schneeberger, P.E., Kortum, F., Altmuller, J., Santos-Simarro, F., Baker, L., Keller-Ramey, J., White, S.M., Campeau, P.M., Gripp, K.W., and Kutsche, K. (2019). Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. American Journal of Human Genetics 104, 1139-57.

Dafsari, H.S., Sprute, R., Wunderlich, G., Daimaguler, H.S., Karaca, E., Contreras, A., Becker, K., Schulze-Rhonhof, M., Kiening, K., Karakulak, T., Kloss, M., Horn, A., Pauls, A., Nurnberg, P., Altmuller, J., Thiele, H., Assmann, B., Koy, A., and Cirak, S. (2019). Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia. J Hum Genet10.1038/s10038-019-0644-y.

Dafsari, H.S., Sprute, R., Wunderlich, G., Daimaguler, H.S., Karaca, E., Contreras, A., Becker, K., Schulze-Rhonhof, M., Kiening, K., Karakulak, T., Kloss, M., Horn, A., Pauls, A., Nurnberg, P., Altmuller, J., Thiele, H., Assmann, B., Koy, A., and Cirak, S. (2019). Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J Hum Genet 64, 803-13.

Grimm, C., Fischer, A., Farrelly, A.M., Kalachand, R., Castiglione, R., Wasserburger, E., Hussong, M., Schultheis, A.M., Altmuller, J., Thiele, H., Reinhardt, H.C., Hauschulz, K., Hennessy, B.T., Herwig, R., Lienhard, M., Buettner, R., and Schweiger, M.R. (2019). Combined Targeted Resequencing of Cytosine DNA Methylation and Mutations of DNA Repair Genes with Potential Use for Poly(ADP-Ribose) Polymerase 1 Inhibitor Sensitivity Testing. J Mol Diagn 21, 198-213.

Hauke, J., Hahnen, E., Schneider, S., Reuss, A., Richters, L., Kommoss, S., Heimbach, A., Marme, F., Schmidt, S., Prieske, K., Gevensleben, H., Burges, A., Borde, J., De Gregorio, N., Nurnberg, P., El-Balat, A., Thiele, H., Hilpert, F., Altmuller, J., Meier, W., Dietrich, D., Kimmig, R., Schoemig-Markiefka, B., Kast, K., Braicu, E., Baumann, K., Jackisch, C., Park-Simon, T.W., Ernst, C., Hanker, L., Pfisterer, J., Schnelzer, A., du Bois, A., Schmutzler, R.K., and Harter, P.(2019). Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883). J Med Genet10.1136/jmedgenet-2018-105930.

Herberg, M., Siebert, S., Quaas, M., Thalheim, T., Rother, K., Hussong, M., Altmuller, J., Kerner, C., Galle, J., Schweiger, M.R., and Aust, G. (2019). Loss of Msh2 and a single-radiation hit induce common, genome-wide, and persistent epigenetic changes in the intestine. Clin Epigenetics 11, 65.

Jurkute, N., Leu, C., Pogoda, H.M., Arno, G., Robson, A.G., Nurnberg, G., Altmuller, J., Thiele, H., Motameny, S., Toliat, M.R., Powell, K., Hohne, W., Michaelides, M., Webster, A.R., Moore, A.T., Hammerschmidt, M., Nurnberg, P., Yu-Wai-Man, P., and Votruba, M. (2019). SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann Neurol 86, 368-83.

Kmietczyk, V., Riechert, E., Kalinski, L., Boileau, E., Malovrh, E., Malone, B., Gorska, A., Hofmann, C., Varma, E., Jurgensen, L., Kamuf-Schenk, V., Altmuller, J., Tappu, R., Busch, M., Most, P., Katus, H.A., Dieterich, C., and Volkers, M. (2019). m(6)A-mRNA methylation regulates cardiac gene expression and cellular growth. Life Sci Alliance 2.

Lindner, A., Marbach, F., Tschernitz, S., Ortner, C., Berneburg, M., Felthaus, O., Prantl, L., Kye, M.J., Rappl, G., Altmuller, J., Thiele, H., Schreml, S., and Schreml, J. (2019). Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis. Sci Rep 9, 8444.

Niestroj, L.M., May, P., Artomov, M., Kobow, K., Coras, R., Perez-Palma, E., Altmuller, J., Thiele, H., Nurnberg, P., Leu, C., Palotie, A., Daly, M.J., Klein, K.M., Beschorner, R., Weber, Y.G., Blumcke, I., and Lal, D. (2019). Assessment of genetic variant burden in epilepsy-associated brain lesions. Eur J Hum Genet10.1038/s41431-019-0484-4.

Okorn, C., Goertz, A., Vester, U., Beck, B.B., Bergmann, C., Habbig, S., Konig, J., Konrad, M., Muller, D., Oh, J., Ortiz-Bruchle, N., Patzer, L., Schild, R., Seeman, T., Staude, H., Thumfart, J., Tonshoff, B., Walden, U., Weber, L., Zaniew, M., Zappel, H., Hoyer, P.F., and Weber, S. (2019). HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry. Pediatr Nephrol 34, 1065-75.

Pauli, S., Altmuller, J., Schroder, S., Ohlenbusch, A., Dreha-Kulaczewski, S., Bergmann, C., Nurnberg, P., Thiele, H., Li, Y., Wollnik, B., and Brockmann, K. (2019). Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J Med Genet 56, 261-4.

Preising, M.N., Gorg, B., Friedburg, C., Qvartskhava, N., Budde, B.S., Bonus, M., Toliat, M.R., Pfleger, C., Altmuller, J., Herebian, D., Beyer, M., Zollner, H.J., Wittsack, H.J., Schaper, J., Klee, D., Zechner, U., Nurnberg, P., Schipper, J., Schnitzler, A., Gohlke, H., Lorenz, B., Haussinger, D., and Bolz, H.J. (2019). Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. FASEB J10.1096/fj.201900914RR, fj201900914RR.

Renner, S., Schuler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V.C., Olfe, J., Roser, E., Seggewies, F.S., Mahlmann, A., Hempel, M., Hartmann, M.J., Hillebrand, M., Wieczorek, D., Volk, A.E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R., Mitter, D., Altmuller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T.S., von Kodolitsch, Y., Kutsche, K., and Rosenberger, G. (2019). Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genet Med 21, 1832-41.

Vogelmann, S., Kleinheinz, K., Altmuller, J., Thiele, H., Nurnberg, P., Schlesner, M., Klapper, W., Bruggemann, M., Siebert, R., Wagener, R., and Oschlies, I. (2019). Genetic Characterization of two Variants of the primary cutaneous Follicle Center Lymphoma. Journal Der Deutschen Dermatologischen Gesellschaft 17, 1-2.

Wagener, R., Seufert, J., Raimondi, F., Bens, S., Kleinheinz, K., Nagel, I., Altmuller, J., Thiele, H., Hubschmann, D., Kohler, C.W., Nurnberg, P., Au-Yeung, R., Burkhardt, B., Horn, H., Leoncini, L., Jaffe, E.S., Ott, G., Rymkiewicz, G., Schlesner, M., Russell, R.B., Klapper, W., and Siebert, R. (2019). The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma. Blood 133, 962-6.

Weber-Lassalle, N., Borde, J., Weber-Lassalle, K., Horvath, J., Niederacher, D., Arnold, N., Kaulfuss, S., Ernst, C., Paul, V.G., Honisch, E., Klaschik, K., Volk, A.E., Kubisch, C., Rapp, S., Lichey, N., Altmuller, J., Lepkes, L., Pohl-Rescigno, E., Thiele, H., Nurnberg, P., Larsen, M., Richters, L., Rhiem, K., Wappenschmidt, B., Engel, C., Meindl, A., Schmutzler, R.K., Hahnen, E., and Hauke, J. (2019). Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. Breast Cancer Res 21, 55.

Ackermann S, Cartolano M, Hero B, Welte A, Kahlert Y, Roderwieser A, Bartenhagen C, Walter E, Gecht J, Kerschke L, Volland R, Menon R, Heuckmann JM, Gartlgruber M, Hartlieb S, Henrich KO, Okonechnikov K, Altmuller J, Nurnberg P, Lefever S, de Wilde B, Sand F, Ikram F, Rosswog C, Fischer J, Theissen J, Hertwig F, Singhi AD, Simon T, Vogel W, Perner S, Krug B, Schmidt M, Rahmann S, Achter V, Lang U, Vokuhl C, Ortmann M, Buttner R, Eggert A, Speleman F, O'Sullivan RJ, Thomas RK, Berthold F, Vandesompele J, Schramm A, Westermann F, Schulte JH, Peifer M, and Fischer M (2018). A mechanistic classification of clinical phenotypes in neuroblastoma. Science 362, 1165-1170.

Alawbathani S, Kawalia A, Karakaya M, Altmuller J, Nurnberg P, and Cirak S (2018). Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia. Cold Spring Harb Mol Case Stud 4.

Belostotsky R, Lyakhovetsky R, Sherman MY, Shkedy F, Tzvi-Behr S, Bar R, Hoppe B, Reusch B, Beck BB, and Frishberg Y (2018). Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria. J Mol Med (Berl) 10.1007/s00109-018-1651-8.

Boehm V, Britto-Borges T, Steckelberg AL, Singh KK, Gerbracht JV, Gueney E, Blazquez L, Altmuller J, Dieterich C, and Gehring NH (2018). Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity. Mol Cell 72, 482-495 e487.

Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmuller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroglu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nurnberg P, Khokha MK, and Hildebrandt F (2018). Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest 128, 4313-4328.

Broekaert IJ, Becker K, Gottschalk I, Korber F, Dotsch J, Thiele H, Altmuller J, Nurnberg P, Hunseler C, and Cirak S (2018). Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. J Med Genet 10.1136/jmedgenet-2018-105262.

Demenais F, Margaritte-Jeannin P, Barnes KC, Cookson WOC, Altmuller J, Ang W, Barr RG, Beaty TH, Becker AB, Beilby J, Bisgaard H, Bjornsdottir US, Bleecker E, Bonnelykke K, Boomsma DI, Bouzigon E, Brightling CE, Brossard M, Brusselle GG, Burchard E, Burkart KM, Bush A, Chan-Yeung M, Chung KF, Couto Alves A, Curtin JA, Custovic A, Daley D, de Jongste JC, Del-Rio-Navarro BE, Donohue KM, Duijts L, Eng C, Eriksson JG, Farrall M, Fedorova Y, Feenstra B, Ferreira MA, Australian Asthma Genetics Consortium c, Freidin MB, Gajdos Z, Gauderman J, Gehring U, Geller F, Genuneit J, Gharib SA, Gilliland F, Granell R, Graves PE, Gudbjartsson DF, Haahtela T, Heckbert SR, Heederik D, Heinrich J, Heliovaara M, Henderson J, Himes BE, Hirose H, Hirschhorn JN, Hofman A, Holt P, Hottenga J, Hudson TJ, Hui J, Imboden M, Ivanov V, Jaddoe VWV, James A, Janson C, Jarvelin MR, Jarvis D, Jones G, Jonsdottir I, Jousilahti P, Kabesch M, Kahonen M, Kantor DB, Karunas AS, Khusnutdinova E, Koppelman GH, Kozyrskyj AL, Kreiner E, Kubo M, Kumar R, Kumar A, Kuokkanen M, Lahousse L, Laitinen T, Laprise C, Lathrop M, Lau S, Lee YA, Lehtimaki T, Letort S, Levin AM, Li G, Liang L, Loehr LR, London SJ, Loth DW, Manichaikul A, Marenholz I, Martinez FJ, Matheson MC, Mathias RA, Matsumoto K, Mbarek H, McArdle WL, Melbye M, Melen E, Meyers D, Michel S, Mohamdi H, Musk AW, Myers RA, Nieuwenhuis MAE, Noguchi E, O'Connor GT, Ogorodova LM, Palmer CD, Palotie A, Park JE, Pennell CE, Pershagen G, Polonikov A, Postma DS, Probst-Hensch N, Puzyrev VP, Raby BA, Raitakari OT, Ramasamy A, Rich SS, Robertson CF, Romieu I, Salam MT, Salomaa V, Schlunssen V, Scott R, Selivanova PA, Sigsgaard T, Simpson A, Siroux V, Smith LJ, Solodilova M, Standl M, Stefansson K, Strachan DP, Stricker BH, Takahashi A, Thompson PJ, Thorleifsson G, Thorsteinsdottir U, Tiesler CMT, Torgerson DG, Tsunoda T, Uitterlinden AG, van der Valk RJP, Vaysse A, Vedantam S, von Berg A, von Mutius E, Vonk JM, Waage J, Wareham NJ, Weiss ST, White WB, Wickman M, Widen E, Willemsen G, Williams LK, Wouters IM, Yang JJ, Zhao JH, Moffatt MF, Ober C, and Nicolae DL (2018). Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. Nat Genet 50, 42-53.

Fazeli W, Becker K, Herkenrath P, Duchting C, Korber F, Landgraf P, Nurnberg P, Altmuller J, Thiele H, Koy A, Liebau MC, Simon T, Dotsch J, and Cirak S (2018). Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. Neuropediatrics 10.1055/s-0038-1668141.

George J, Walter V, Peifer M, Alexandrov LB, Seidel D, Leenders F, Maas L, Muller C, Dahmen I, Delhomme TM, Ardin M, Leblay N, Byrnes G, Sun R, De Reynies A, McLeer-Florin A, Bosco G, Malchers F, Menon R, Altmuller J, Becker C, Nurnberg P, Achter V, Lang U, Schneider PM, Bogus M, Soloway MG, Wilkerson MD, Cun Y, McKay JD, Moro-Sibilot D, Brambilla CG, Lantuejoul S, Lemaitre N, Soltermann A, Weder W, Tischler V, Brustugun OT, Lund-Iversen M, Helland A, Solberg S, Ansen S, Wright G, Solomon B, Roz L, Pastorino U, Petersen I, Clement JH, Sanger J, Wolf J, Vingron M, Zander T, Perner S, Travis WD, Haas SA, Olivier M, Foll M, Buttner R, Hayes DN, Brambilla E, Fernandez-Cuesta L, and Thomas RK (2018). Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors. Nat Commun 9, 1048.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmuller J, Nurnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, and Gleeson JG (2018). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet 103, 431-439.

Goncalves I, Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmuller J, Vilchez D, Sahin M, Wirth B, and Kye MJ (2018). Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep 8, 7907.

Grimm C, Fischer A, Farrelly AM, Kalachand R, Castiglione R, Wasserburger E, Hussong M, Schultheis AM, Altmuller J, Thiele H, Reinhardt HC, Hauschulz K, Hennessy BT, Herwig R, Lienhard M, Buettner R, and Schweiger MR (2018). Combined Targeted Re-Sequencing of Cytosine DNA Methylation and Mutations of DNA Repair Genes with Potential Use for PARP1 Inhibitor Sensitivity Testing. J Mol Diagn 10.1016/j.jmoldx.2018.10.007.

Harms FL, Nampoothiri S, Kortum F, Thomas J, Panicker VV, Alawi M, Altmuller J, Yesodharan D, and Kutsche K (2018). Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body. Br J Dermatol 10.1111/bjd.16912.

Herling CD, Abedpour N, Weiss J, Schmitt A, Jachimowicz RD, Merkel O, Cartolano M, Oberbeck S, Mayer P, Berg V, Thomalla D, Kutsch N, Stiefelhagen M, Cramer P, Wendtner CM, Persigehl T, Saleh A, Altmuller J, Nurnberg P, Pallasch C, Achter V, Lang U, Eichhorst B, Castiglione R, Schafer SC, Buttner R, Kreuzer KA, Reinhardt HC, Hallek M, Frenzel LP, and Peifer M (2018). Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia. Nat Commun 9, 727.

Hohne M, Frese CK, Grahammer F, Dafinger C, Ciarimboli G, Butt L, Binz J, Hackl MJ, Rahmatollahi M, Kann M, Schneider S, Altintas MM, Schermer B, Reinheckel T, Gobel H, Reiser J, Huber TB, Kramann R, Seeger-Nukpezah T, Liebau MC, Beck BB, Benzing T, Beyer A, and Rinschen MM (2018). Single-nephron proteomes connect morphology and function in proteinuric kidney disease. Kidney Int 93, 1308-1319.

Irmak D, Fatima A, Gutierrez-Garcia R, Rinschen MM, Wagle P, Altmuller J, Arrigoni L, Hummel B, Klein C, Frese CK, Sawarkar R, Rada-Iglesias A, and Vilchez D (2018). Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ-expanded huntingtin mutations. Hum Mol Genet 27, 4117-4134.

Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmuller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA, Euro ECC, Zara F, Lehesjoki AE, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, and Nurnberg P (2018). Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS One 13, e0202022.

Knaup KX, Hackenbeck T, Popp B, Stoeckert J, Wenzel A, Buttner-Herold M, Pfister F, Schueler M, Seven D, May AM, Halbritter J, Grone HJ, Reis A, Beck BB, Amann K, Ekici AB, and Wiesener MS (2018). Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition. J Am Soc Nephrol 29, 2298-2309.

Lanver D, Muller AN, Happel P, Schweizer G, Haas FB, Franitza M, Pellegrin C, Reissmann S, Altmuller J, Rensing SA, and Kahmann R (2018). The Biotrophic Development of Ustilago maydis Studied by RNA-Seq Analysis. Plant Cell 30, 300-323.

Matei A, Ernst C, Gunl M, Thiele B, Altmuller J, Walbot V, Usadel B, and Doehlemann G (2018). How to make a tumour: cell type specific dissection of Ustilago maydis-induced tumour development in maize leaves. New Phytol 217, 1681-1695.

Mross C, Marko M, Munck M, Glockner G, Motameny S, Altmuller J, Noegel AA, Eichinger L, Peche VS, and Neumann S (2018). Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice. Nucleus 9, 503-515.

Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmuller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Muller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, and Hennekam RC (2018). Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. J Med Genet 10.1136/jmedgenet-2018-105528.

Pauli S, Altmuller J, Schroder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, Nurnberg P, Thiele H, Li Y, Wollnik B, and Brockmann K (2018). Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J Med Genet 10.1136/jmedgenet-2018-105470.

Peeva V, Blei D, Trombly G, Corsi S, Szukszto MJ, Rebelo-Guiomar P, Gammage PA, Kudin AP, Becker C, Altmuller J, Minczuk M, Zsurka G, and Kunz WS (2018). Linear mitochondrial DNA is rapidly degraded by components of the replication machinery. Nat Commun 9, 1727.

Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Altmuller J, Nurnberg P, Ellwanger J, Gambon R, Baumer A, Kohlschmidt N, Metze D, Holdenrieder S, Paus R, Lutjohann D, Frank J, Geyer M, Bertolini M, Kokordelis P, and Betz RC (2018). Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am J Hum Genet 103, 777-785.

Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, Konig J, Lee JJY, Drogemoller B, Imminger K, Beck BB, Altmuller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, and Konrad M (2018). Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. Am J Hum Genet 103, 808-816.

Schrader A, Crispatzu G, Oberbeck S, Mayer P, Putzer S, von Jan J, Vasyutina E, Warner K, Weit N, Pflug N, Braun T, Andersson EI, Yadav B, Riabinska A, Maurer B, Ventura Ferreira MS, Beier F, Altmuller J, Lanasa M, Herling CD, Haferlach T, Stilgenbauer S, Hopfinger G, Peifer M, Brummendorf TH, Nurnberg P, Elenitoba-Johnson KSJ, Zha S, Hallek M, Moriggl R, Reinhardt HC, Stern MH, Mustjoki S, Newrzela S, Frommolt P, and Herling M (2018). Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL. Nat Commun 9, 697.

Staubach S, Wenzel A, Beck BB, Rinschen MM, Muller S, and Hanisch FG (2018). Autosomal Tubulointerstitial Kidney Disease-MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells. Proteomics 18, e1700456.

Wagener R, Lopez C, Kleinheinz K, Bausinger J, Aukema SM, Nagel I, Toprak UH, Seufert J, Altmuller J, Thiele H, Schneider C, Kolarova J, Park J, Hubschmann D, Murga Penas EM, Drexler HG, Attarbaschi A, Hovland R, Kjeldsen E, Kneba M, Kontny U, de Leval L, Nurnberg P, Oschlies I, Oscier D, Schlegelberger B, Stilgenbauer S, Wossmann W, Schlesner M, Burkhardt B, Klapper W, Jaffe ES, Kuppers R, and Siebert R (2018). IG-MYC-positive neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas. Blood 10.1182/blood-2018-03-842088.

Weber L, Massberg D, Becker C, Altmuller J, Ubrig B, Bonatz G, Wolk G, Philippou S, Tannapfel A, Hatt H, and Gisselmann G (2018). Olfactory Receptors as Biomarkers in Human Breast Carcinoma Tissues. Front Oncol 8, 33.

Weitensteiner V, Zhang R, Bungenberg J, Marks M, Gehlen J, Ralser DJ, Hilger AC, Sharma A, Schumacher J, Gembruch U, Merz WM, Becker A, Altmuller J, Thiele H, Herrmann BG, Odermatt B, Ludwig M, and Reutter H (2018). Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene. Birth Defects Res 110, 587-597.

Wenzel A, Altmueller J, Ekici AB, Popp B, Stueber K, Thiele H, Pannes A, Staubach S, Salido E, Nuernberg P, Reinhardt R, Reis A, Rump P, Hanisch FG, Wolf MTF, Wiesener M, Huettel B, and Beck BB (2018). Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations. Sci Rep 8, 4170.

Yu PH, Kuo YR, Altmuller J, and Hwang DY (2018). Senior-Loken syndrome with IQCB1 mutation in Taiwan. Kaohsiung J Med Sci 34, 588-589.

Zirkel A, Nikolic M, Sofiadis K, Mallm JP, Brackley CA, Gothe H, Drechsel O, Becker C, Altmuller J, Josipovic N, Georgomanolis T, Brant L, Franzen J, Koker M, Gusmao EG, Costa IG, Ullrich RT, Wagner W, Roukos V, Nurnberg P, Marenduzzo D, Rippe K, and Papantonis A (2018). HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell Types. Mol Cell 70, 730-744 e736.

Zivna M, Kidd K, Pristoupilova A, Baresova V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannova H, Hodanova K, Stranecky V, Vrbacka A, Vyletal P, Zivny J, Votruba M, Sovova J, Hulkova H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklicky O, Rajnochova-Bloudickova S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, and Kmoch S (2018). Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease. J Am Soc Nephrol 29, 2418-2431.

 

Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nurnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MMA, Hassan I, Rehman SU, Thiele H, Altmuller J, Noegel AA, and Nurnberg P (2017). Genetic heterogeneity in Pakistani microcephaly families revisited. Clin Genet 92, 62-8.

Altmuller J, Haenisch B, Kawalia A, Menzen M, Nothen MM, Fier H, and Molderings GJ (2017). Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing. Immunogenetics 69, 359-69.

Awazawa M, Gabel P, Tsaousidou E, Nolte H, Kruger M, Schmitz J, Ackermann PJ, Brandt C, Altmuller J, Motameny S, Wunderlich FT, Kornfeld JW, Bluher M, and Bruning JC (2017). A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle. Nat Med 23, 1466-73.

Bartram MP, Mishra T, Reintjes N, Fabretti F, Gharbi H, Adam AC, Gobel H, Franke M, Schermer B, Haneder S, Benzing T, Beck BB, and Muller RU (2017). Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. BMC Med Genet 18, 53.

Ebner K, Dafinger C, Ortiz-Bruechle N, Koerber F, Schermer B, Benzing T, Dotsch J, Zerres K, Weber LT, Beck BB, and Liebau MC (2017a). Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations. Pediatr Nephrol 32, 1269-73.

Ebner K, Reintjes N, Feldkotter M, Korber F, Nagel M, Dotsch J, Hoppe B, Weber LT, Beck BB, and Liebau MC (2017b). A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome. Clin Nephrol 88, 45-51.

Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmuller J, Netzer C, Thiele H, Nurnberg P, Yigit G, Jager M, Hecht J, Kruger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, and Kornak U (2017). De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet 101, 833-43.

Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmuller J, Dion C, Thiele H, Gurzau AD, Nurnberg P, Meschede D, Muhlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschke P, Ragge N, Levy N, Tuncbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, and Reversade B (2017). De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet 49, 249-55.

Hackl A, Ehren R, Kirschfink M, Zipfel PF, Beck BB, Weber LT, and Habbig S (2017a). Successful discontinuation of eculizumab under immunosuppressive therapy in DEAP-HUS. Pediatr Nephrol 32, 1081-7.

Hackl A, Mehler K, Gottschalk I, Vierzig A, Eydam M, Hauke J, Beck BB, Liebau MC, Ensenauer R, Weber LT, and Habbig S (2017b). Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities. Pediatr Nephrol 32, 791-800.

Harter P, Hauke J, Heitz F, Reuss A, Kommoss S, Marme F, Heimbach A, Prieske K, Richters L, Burges A, Neidhardt G, de Gregorio N, El-Balat A, Hilpert F, Meier W, Kimmig R, Kast K, Sehouli J, Baumann K, Jackisch C, Park-Simon TW, Hanker L, Krober S, Pfisterer J, Gevensleben H, Schnelzer A, Dietrich D, Neunhoffer T, Krockenberger M, Brucker SY, Nurnberg P, Thiele H, Altmuller J, Lamla J, Elser G, du Bois A, Hahnen E, and Schmutzler R (2017). Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1). PLoS One 12, e0186043.

Horpaopan S, Kirfel J, Peters S, Kloth M, Huneburg R, Altmuller J, Drichel D, Odenthal M, Kristiansen G, Strassburg C, Nattermann J, Hoffmann P, Nurnberg P, Buttner R, Thiele H, Kahl P, Spier I, and Aretz S (2017). Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS). Hered Cancer Clin Pract 15, 22.

Huppke P, Weissbach S, Church JA, Schnur R, Krusen M, Dreha-Kulaczewski S, Kuhn-Velten WN, Wolf A, Huppke B, Millan F, Begtrup A, Almusafri F, Thiele H, Altmuller J, Nurnberg P, Muller M, and Gartner J (2017). Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat Commun 8, 818.

Khan AO, Becirovic E, Betz C, Neuhaus C, Altmuller J, Maria Riedmayr L, Motameny S, Nurnberg G, Nurnberg P, and Bolz HJ (2017). A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. Sci Rep 7, 1411.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmuller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brustle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schols L, Nurnberg P, Zuchner S, Klockgether T, Ramirez A, and Schule R (2017). Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain 140, 1561-78.

Neidhardt G, Becker A, Hauke J, Horvath J, Bogdanova Markov N, Heilmann-Heimbach S, Hellebrand H, Thiele H, Altmuller J, Nurnberg P, Meindl A, Rhiem K, Blumcke B, Wappenschmidt B, Schmutzler RK, and Hahnen E (2017). The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer. Eur J Cancer Prev 26, 165-9.

Paeger L, Karakasilioti I, Altmuller J, Frommole P, Bruning J, and Kloppenburg P (2017). Antagonistic modulation of NPY/AgRP and POMC neurons in the arcuate nucleus by noradrenalin. Elife 6.

Ralser DJ, Basmanav FBU, Tafazzoli A, Wititsuwannakul J, Delker S, Danda S, Thiele H, Wolf S, Busch M, Pulimood SA, Altmuller J, Nurnberg P, Lacombe D, Hillen U, Wenzel J, Frank J, Odermatt B, and Betz RC (2017). Mutations in gamma-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. Journal of Clinical Investigation 127, 1485-90.

Rehimi R, Bartusel M, Solinas F, Altmuller J, and Rada-Iglesias A (2017). Chromatin Immunoprecipitation (ChIP) Protocol for Low-abundance Embryonic Samples. J Vis Exp 10.3791/56186.

Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaite Z, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmuller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nurnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, and Stewart GS (2017). Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nat Genet 49, 537-49.

Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, and Netzer C (2017). A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome. Am J Med Genet A 173, 2132-8.

Siede D, Rapti K, Gorska AA, Katus HA, Altmuller J, Boeckel JN, Meder B, Maack C, Volkers M, Muller OJ, Backs J, and Dieterich C (2017). Identification of circular RNAs with host gene-independent expression in human model systems for cardiac differentiation and disease. J Mol Cell Cardiol 109, 48-56.

Sukumaran SK, Stumpf M, Salamon S, Ahmad I, Bhattacharya K, Fischer S, Muller R, Altmuller J, Budde B, Thiele H, Tariq M, Malik NA, Nurnberg P, Baig SM, Hussain MS, and Noegel AA (2017). CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. Mol Genet Genomics 292, 365-83.

van Doormaal PTC, Ticozzi N, Weishaupt JH, Kenna K, Diekstra FP, Verde F, Andersen PM, Dekker AM, Tiloca C, Marroquin N, Overste DJ, Pensato V, Nurnberg P, Pulit SL, Schellevis RD, Calini D, Altmuller J, Francioli LC, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph AC, van den Berg LH, Kubisch C, Landers JE, Veldink JH, Silani V, and Volk AE (2017). The role of de novo mutations in the development of amyotrophic lateral sclerosis. Hum Mutat 38, 1534-41.

Weissbach S, Reinert MC, Altmuller J, Kratzner R, Thiele H, Rosenbaum T, Nurnberg P, and Gartner J (2017). A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Am J Med Genet A 173, 2803-7.

Dr. Bodo Beck CMMC Cologne
Dr. Bodo Beck

Institute for Human Genetics / RG location - CMMC Building

Principal Investigator C 1

+49 221 478 86824

+49 221 478 97835

Institute for Human Genetics / RG location - CMMC Building

Kerpener Str. 34

50931 Cologne

http://humangenetik.uk-koeln.de/

CMMC Profile Page

Publications - Bodo Beck

Link to PubMed

Dr. Janine Altmüller CMMC Cologne
Dr. Janine Altmüller

Cologne Center for Genomics / RG location - CMMC Building

Co-Principal Investigator C 1

+49 221 478 96819

+49 221 478 78910

Cologne Center for Genomics / RG location - CMMC Building

Weyertal 115b

50931 Cologne

http://portal.ccg.uni-koeln.de/ccg/

CMMC Profile Page

Publications - Janine Altmüller

Link to PubMed

Group Members

Andrea Wenzel (PostDoc)
Florian Erger (Clinician Scientist)
Björn Reusch (PhD student)
Nikolai Tschernoster (PhD student)
Deborah Nörling (master student)

Figure 1

Figure 2