Institut für Humangenetik
  • Ahmad A, Dad R, Ullah MI, Baig TA, Ahmad IN, Nasir A, Hübner CA, Hassan MJ. Clinical and genetic studies in patients with Lafora disease from Pakistan. J Neurol Sci 2017; 373:263-267.
  • Ahmad A, Dad R, Ullah MI, Baig TA, Ahmad IN, Nasir A, Hübner CA, Hassan MJ. Corrigendum to "Clinical and genetic studies in patients with Lafora disease from Pakistan" [J. Neurol. Sci. 373 (2017) 263-267]. J Neurol Sci. 2017 Apr 15;375:281.
  • Al-Achkar W, Moassass F, Aroutiounian R, Harutyunyan T, Liehr T, Wafa A. Effect of Glutathione S-transferase mu 1 (GSTM1) gene polymorphism on chronic myeloid leukemia risk and Imatinib treatment response. Metagene 2017, 12:113-117.
  • Asim M, Tarish F, Zecchini HI, Sanjiv K, Gelali E, Massie CE, Baridi A, Warren AY, Zhao W, Ogris C, McDuffus LA, Mascalchi P, Shaw G, Dev H, Wadhwa K, Wijnhoven P, Forment JV, Lyons SR, Lynch AG, O'Neill C, Zecchini VR, Rennie PS, Baniahmad A, Tavaré S, Mills IG, Galanty Y, Crosetto N, Schultz N, Neal D, Helleday T. Synthetic lethality between androgen receptor signalling and the PARP pathway in prostate cancer. Nat Commun 2017, 8:374.
  • Blanquie O, Liebmann L, Hübner CA, Luhmann HJ, Sinning A. NKCC1-mediated GABAergic signaling promotes postnatal cell death in neocortical cajal-retzius cells. Cereb Cortex. 2017, 27:1644-1659.
  • Borges ML, Capela de Matos RR, Amaral BD, Soares-Ventura EM, Leite EP, Silva MO, Cornélio MT, Silva ML, Liehr T, Marques-Salles T. Molecular cytogenetic approach to characterize novel and cryptic chromosome abnormalities in childhood myeloid malignances of Fanconi anemia. J Ped Hematol Oncol 2017, 39:e85-e91.
  • Busch A, Žarković M, Lowe C, Jankofsky M, Ganschow R, Buers I, Kurth I, Reutter H, Rutsch F, Hübner CA. Mutations in CRLF1 cause familial achalasia. Clin Genet. 2017, 92:104-108.
  • Capela de Matos RR, Ney Garcia DR, Cifoni E, Othman MAK, Tavares de Souza M, Carboni EK, Ferreira GM, Liehr T, Ribeiro RC, M Silva MLGAS6 oncogene and reverse MLLT3-KMT2A duplications in an infant with acute myeloid leukemia and a novel complex hyperdiploid karyotype: detailed high-resolution molecular cytogenetic studies. Cytogenet Genome Res 2017, 152:33-37.
  • Carvalho PC, Aguiar de Oliveira E, Bertollo ALC, Yano CF, Oliveira C, Decru E, Jegede OI, Hatanaka T, Liehr T, Al-Rikabi ABH, de Bello Cioffi M. Insights into relationship between African and Neotropical fish groups: First chromosomal analysis in Hepsetidae (Actinopterygii, Characiformes). Frontiers in Genetics, section Evolutionary and Population Genetics 2017; 8:203.
  • Castori M, Morlino S, Ungelenk M, Pareyson D, Salsano E, Grammatico P, Tolosano E, Kurth I, Chiabrando D. Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174:732-739.
  • Coci EG, Codutti L, Fink C, Bartsch S, Grüning G, Lücke T, Kurth I, Riedel J. Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy. Mol Cell Probes. 2017 Apr;32:18-23.
  • Coci EG, Auhuber A, Langenbach A, Mrasek K, Riedel J, Leenen A, Lücke T, LiehrT. Novel unbalanced translocations affecting the long arms of chromosomes 10 and 22 cause complex syndromes with very severe neurodevelopmental delay, speech impairment, autistic behavior, and epilepsy. Cytogenet Genome Res 2017, 151:171-178.
  • de Souza DC, de Figueiredo AF, Ney Garcia DR, da Costa ES, Othman MAK, Liehr T, Abdelhay E, Silva MLM, de Souza Fernandez T. A unique set of complex chromosomal abnormalities in an infant with myeloid leukemia associated with Down syndrome. Mol Cytogenet. 2017, 10:35.
  • Disha K, Schulz S, Kuntze T, Girdauskas E. Transforming growth factor beta-2 mutations in Barlow's disease and aortic dilatation. Ann Thorac Surg. 2017, 104:e19-e21.
  • Donat M, Louis A, Kreskowski K, Ziegler M, Weise A, Schreyer I, Liehr T. X-autosome and X-Y translocations in female carriers: X-chromosome inactivation easily detectable by 5-ethynyl-2-deoxyuridine (EdU). Balk J Med Genet 2017; 20:87-90.
  • Duijster D, Monse B, Dimaisip-Nabuab J, Djuharnoko P, Heinrich-Weltzien R, Hobdell M, Kromeyer-Hauschild K, Kunthearith Y, Mijares-Majini MC, Siegmund N, Soukhanouvong P, Benzian H. 'Fit for school' - a school-based water, sanitation and hygiene programme to improve child health: Results from a longitudinal study in Cambodia, Indonesia and Lao PDR. BMC Public Health. 2017, 17:302.
  • Fischer M, Kosyakova N, Liehr T, Dobrowolski P. Large deletion on the Y-chromosome long arm (Yq) of C57BL/6JBomTac inbred mice. Mamm Genome 2017, 28:31-37.
  • Girdauskas E, Geist L, Disha K, Kazakbaev I, Groß T, Schulz S, Ungelenk M, Kuntze T, Reichenspurner H, Kurth I. Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results. Eur J Cardiothorac Surg. 2017; 52:156-162.
  • Gold WA, Sobreira N, Wiame E, Marbaix A, Van Schaftingen E, Franzka P, Riley LG, Worgan L, Hübner CA, Christodoulou J, Adès LC. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Am J Med Genet A. 2017 173:2246-2250.
  • Guja K, Liehr T, Rincic M, Kosyakova N, Hussein Azawi SS. Molecular cytogenetic characterization identified the murine B-Cell lymphoma cell line A-20 as a model for sporadic Burkitt's lymphoma. J Histochem Cytochem 2017, 65:669-677.
  • Heimrich KG, Gühne F, Schulz S, Mutschke S, Stallmach A, Rüddel J. [Gastroparesis in Noonan syndrome]. Z Gastroenterol. 2017, 55:145-148.
  • Hennings JC, Andrini O, Picard N, Paulais M, Huebner AK, Cayuqueo IK, Bignon Y, Keck M, Cornière N, Böhm D, Jentsch TJ, Chambrey R, Teulon J, Hübner CA, Eladari D. The ClC-K2 chloride channel is critical for salt handling in the distal nephron. J Am Soc Nephrol 2017;28:209-217.
  • Hochstenbach R, Poot M, Liehr T. Mechanisms of origin and clinical effects of multiple small supernumerary marker chromosomes, each derived from a different chromosome. OBM Genetics 2017; 1 doi:10.21926/obm.genet.1701002
  • Karamysheva TV, Torgasheva AA, Yefremov YR, Bogomolov AG, Liehr T, Borodin PM, Rubtsov NB. Spatial organization of fibroblast and spermatocyte nuclei with different B chromosome content in Korean field mouse Apodemus peninsulae (Rodentia, Muridae). Genome 2017; 60:815-824.
  • Karimzad Hagh J, Liehr T, Ghaedi H, Mossalaeie MM, Alimohammadi S, Inanloo Hajiloo F, Moeini Z, Sarabi S, Zare-Abdollahi D. Prenatal diagnosis of mosaic tetrasomy 18p in a case without sonographic abnormalities. Int J Mol Cell Med (IJMCM) 2017; 6:61-65.
  • Kubicova E, Trifonov V, Borovecki F, Liehr T, Rincic M, Kosyakova N, Hussein SS. First molecular cytogenetic characterization of murine malignant mesothelioma cell line AE17 and in silico translation to the human genome. Curr Bioinform 2017, 12:11-18.
  • Kurtovic-Kozaric A, Mehinovic L, Komic H, Kozaric M, Husic-Selimovic A, Ziegler M, LiehrT. Human cytogenetics case report: Yet unreported heteromorphic variant in chromosome 17. J Genetics Genomes 2017; 1:101.
  • Liehr T. “Classical cytogenetics” is not equal to “banding cytogenetics”. Mol Cytogenet 2017; 10:3
  • Liehr T. Chronic lymphocytic leukemia (CLL) diagnostics better to do in cultivated than native cells. (
  • Liehr T. How to characterize best the genetic content of small supernumerary marker chromosomes. (
  • Liehr T. Human cells can count their chromosomes – but how do they do? (
  • Liehr T. What about noninvasive prenatal testing (NIPT) from ‘cell-free fetal DNA’ (cffDNA)?
  • Liehr T. Thorough discussion of cancer research – thoughts against the main stream. Europ J Hum Genet 2017, 25: 902-903.
  • Liehr T. The first internet page on chromosomal heteromorphisms (HMs). ECA newsletter 2017, 40:32-33.
  • Liehr T. What about the real costs of next generation sequencing (NGS) in human genetic diagnostics? (
  • Liehr T. Expert knowledge on human genetic counselling and chromosomics are necessary for sound genetic laboratory diagnostics. Mol Exp Biol Med 2017, 1:1-3
  • Liehr T, Mrasek K, Klein E, Weise A. Modern high throughput approaches are not meant to replace ‘old fashioned’ but robust techniques. J Genet Genomes 2017, 1:e101.
  • Liehr T, Lauten A, Schneider U, Schleussner E, Weise A. Noninvasive prenatal testing (NIPT) – when is it advantageous to apply? Biomed Hub 2017; 2:458432.
  • Liehr T, Carreira IM, Aktas D, Bakker E, Rodríguez de Alba M, Coviello DA, Florentin L, Scheffer H, Rincic M; the Clinical Laboratory Geneticists Professional Branch Board, European Board of Medical Genetics, Vienna, Austria. European registration process for Clinical Laboratory Geneticists in genetic healthcare. Europ J Hum Genet 2017, 25:515-519
  • Liehr T, Weise A, Schreyer I. Humangenetische Diagnostik – muss es immer NGS sein? BIOspektrum 2017, 03/17:350-351.
  • Liehr T,  Buleu O, Karamysheva T, Bugrov A, Rubtsov N. New insights into Phasmatodea chromosomes. Genes (Basel) 2017; 8:E327.
  • Mendez-Rosado LA, Lantigua A, Galarza J, Al-Rikabi ABH, Ziegler M, Liehr T. Unusual de novo partial trisomy 17p12p11.2 due to unbalanced insertion into 5p13.1 in a severely affected boy. J Pediatr Genet 2017, 6:165-168
  • Merlo MA, Iziga R, Portela S, Cross I, Kosyakova N, Liehr T, Manchado M, Rebordinos L. Analysis of the histone cluster in Senegalese sole (Solea senegalensis): evidence for a divergent evolution of two canonical histone clusters. Genome 2017, 60:441-453.
  • Mumtaz R, Trepiccione F, Hennings JC, Huebner AK, Serbin B, Picard N, Ullah AKMS, Păunescu TG, Capen DE, Lashhab RM, Mouro-Chanteloup I, Alper SL, Wagner CA, Cordat E, Brown D, Eladari D, Hübner CA. Intercalated cell depletion and vacuolar H+-ATPase mistargeting in an Ae1 R607H knockin model. J Am Soc Nephrol 2017, 28:1507-1520.
  • Ney Garcia DR, de Souza MT, de Figueiredo AF, Othman MAK, Rittscher K, Abdelhay E, Capela de Matos RR, Meyer C, Marschalek R, Land MGP, Liehr T, Ribeiro RC, Silva MLM. Molecular characterization of KMT2A fusion​ in 13 cases of pediatric leukemia with a complex or cryptic karyotype. Hem Oncol 2017; 35:760-768.
  • Papadopoulou Z, Papoulidis I, Sifaki S, Markopoulos G, Vetro A, Vlaikou A-M, Ziegler M, Liehr T, Thomaidis L, Zuffardi O, Syrrou M, George K, Manolakos E. Partial monosomy 8p and trisomy 16q in two children with developmental delay detected with aCGH. Mol Med Rep 2017;16:8808-8818.
  • Pensold D, Symmank J, Hahn A, Lingner T, Salinas-Riester G, Downie BR, Ludewig F, Rotzsch A, Haag N, Andreas N, Schubert K, Hübner CA, Pieler T, Zimmer G. The DNA methyltransferase 1 (DNMT1) controls the shape and dynamics of migrating POA-derived interneurons fated for the murine cerebral cortex. Cereb Cortex 2017, 27:5696-5714.
  • Portela-Bens S, Merlo MA, Rodríguez ME, Cross I, Manchado M, Kosyakova N, LiehrT, Rebordinos L. Integrated gene mapping and synteny studies give insights into the evolution of a sex proto-chromosome in Solea senegalensis. Chromosoma 2017; 126:261-277.
  • Saini AG, Padmanabh H, Sahu JK, Kurth I, Voigt M, Singhi P. Hereditary sensory polyneuropathy, pain insensitivity and global developmental delay due to novel mutation in PRDM12 gene. Indian J Pediatr. 2017, 84:332-333.
  • Salameh AI, Hübner CA, Boron WF. Role of Cl- -HCO3- exchanger AE3 in intracellular pH homeostasis in cultured murine hippocampal neurons, and in crosstalk to adjacent astrocytes. J Physiol 2017;595:93-124.
  • Santiago F, Lima S, Pinheiro T, Silvestre RT, Otero UB, Tabalipa MM, Kosyakova N, Ornellas MH, Liehr T, Alves G. Benzene poisoning, clinical and blood abnormalities in two Brazilian female gas station attendants: two case reports. BMC Res Notes. 2017,10:52.
  • Seemann E, Sun M, Krueger S, Tröger J, Hou W, Haag N, Schüler S, Westermann M, Huebner CA, Romeike B, Kessels MM, Qualmann B. Deciphering caveolar functions by syndapinIII KO-mediatedimpairment of caveolar invagination. Elife. 2017 Dec 5;6. pii: e29854.
  • Sheth H, Tewari S, Shah K, Liehr T, Trivedi J, Pandya M, Sheth JJ, Sheth F. Prenatal detection of cryptic genomic rearrangement: role of detailed family history, pedigree analysis and advanced genomic technologies. Int J Preg Child Birth 2017; 3:00071.
  • Sinning A, Radionov N, Trepiccione F, López-Cayuqueo KI, Jayat M, Baron S, Cornière N, Alexander RT, Hadchouel J, Eladari D, Hübner CA, Chambrey R. Double Knockout of the Na+-Driven Cl-/HCO3-exchanger and Na+/Cl- cotransporter induces hypokalemia and volume depletion. J Am Soc Nephrol 2017;28:130-139.
  • Teichert M, Liebmann L, Hübner CA, Bolz J. Homeostatic plasticity and synaptic scaling in the adult mouse auditory cortex. Sci Rep. 2017; 7:17423.
  • Tewari S, Lubna N, Shah R, Al-Rikabi ABH, Shah K, Sheth J, Sheth F. Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15. Mol Cytogenet 2017; 10:38.
  • Thooptianrat T, Chaveerach A, Sudmoon R, Tanee T, Liehr T, Babayan N. Screening of phytochemicals and toxicity of medicinal plants, Dillenia species, reveals potential natural product resources. J Food Biochem. 2017;e12363.
  • Trepiccione F, Prosperi F, de la Motte LR, Hübner CA, Chambrey R, Eladari D, Capasso G. New findings on the pathogenesis of distal renal tubular acidosis. Kidney Dis (Basel). 2017 Dec;3(3):98-105.
  • Ullah MI, Ahmad A, Zarkovic M, Shah SS, Nasir A, Mahmood S, Ahmad W, Hübner CA, Hassan MJ. Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy. Saudi Med J. 2017; 38:1190-1195.
  • Valkova C, Liebmann L, Krämer A, Hübner CA, Kaether C. The sorting receptor Rer1 controls Purkinje cell function via voltage gated sodium channels. Sci Rep 2017;7:41248.
  • Volleth M, Truong Son N, Wu Y, Li Y, Yu W, Lin L-K, Arai S, Trifonov V, Liehr T, Harada M. Comparative chromosomal studies in Rhinolophus formosae and R. luctus from China and Vietnam: elevation of R. l. lanosus to species rank. Acta Chiropt 2017, 19: 41-50.
  • Wafa A, As’sad M, Liehr T, Aljapawe A, Al-Achkar W. Childhood pre-B-acute lymphoblastic leukemia with translocation t(1;19)(q21.1;p13.3) and two additional chromosomal aberrations involving chromosomes 1, 6 and 13. J Med Case Rep 2017, 11:94.
  • Wafa A, Almedani S, Liehr T, Ziegler M, Aljapawe A, Al Achkar W. Complex karyotype involving six chromosomes, with one dicentric and three yet unreported acquired chromosomal aberrations in a case of splenic marginal zone lymphoma. Gene Rep 2017; 8:79-83
  • Yano CF, Bertollo LAC, Ezaz T, Trifonov V, Sember A, Liehr T, Cioffi MB. Highly conserved Z and molecularly diverged W chromosomes in the fish genus Triportheus (Characiformes, Triportheidae). Heredity 2017; 118:276-283.
  • Yano CF, Bertollo LA, Rebordinos L, Merlo MA, Liehr T, Portela-Bens S, Cioffi MB. Evolutionary dynamics of rDNAs and U2 small nuclear DNAs in Triportheus (Characiformes, Triportheidae): High variability and particular syntenic organization. Zebrafish 2017, 14:146-154




Fluorescence in situ Hybridization (FISH) – Application Guide, T Liehr (Editor), 2nd Ed., Springer, Berlin, 2017, ISBN: 978-3662529577

FISH-book 2016

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