Prof. Dr. rer. nat. Uwe Kornak

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  • 2022 | Journal Article | 
    ​ ​Early‐onset osteoporosis: Rare monogenic forms elucidate the complexity of disease pathogenesis beyond type I collagen​
    Costantini, A.; Mäkitie, R. E.; Hartmann, M. A.; Fratzl‐Zelman, N.; Zillikens, M. C.; Kornak, U.   & Søe, K. et al.​ (2022) 
    Journal of Bone and Mineral Research, art. jbmr.4668​.​ DOI: https://doi.org/10.1002/jbmr.4668 
    ​Details  DOI 
  • 2021 | Journal Article
    ​ ​A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions​
    Rodríguez de los Santos, M.; Rivalan, M.; David, F. S.; Stumpf, A.; Pitsch, J.; Tsortouktzidis, D. & Velasquez, L. M. et al.​ (2021) 
    Proceedings of the National Academy of Sciences, 118(2) pp. e2014481118​.​ DOI: https://doi.org/10.1073/pnas.2014481118 
    ​Details  DOI 
  • 2021 | Journal Article
    ​ ​Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa​
    Vogt, G.; El Choubassi, N.; Herczegfalvi, Á.; Kölbel, H.; Lekaj, A.; Schara, U. & Holtgrewe, M. et al.​ (2021) 
    Journal of Inherited Metabolic Disease,.​ DOI: https://doi.org/10.1002/jimd.12341 
    ​Details  DOI 
  • 2021 | Journal Article
    ​ ​Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX​
    Stürznickel, J.; Jähn‐Rickert, K.; Zustin, J.; Hennig, F.; Delsmann, M. M.; Schoner, K. & Rehder, H. et al.​ (2021) 
    Journal of Bone and Mineral Research,.​ DOI: https://doi.org/10.1002/jbmr.4277 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene​
    Rolvien, T.; Avci, O.; von Kroge, S.; Koehne, T.; Selbert, S.; Sonntag, S. & Shmerling, D. et al.​ (2020) 
    Bone Reports, 12 art. 100281​.​ DOI: https://doi.org/10.1016/j.bonr.2020.100281 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article
    ​ ​VarFish: comprehensive DNA variant analysis for diagnostics and research​
    Holtgrewe, M.; Stolpe, O.; Nieminen, M.; Mundlos, S.; Knaus, A.; Kornak, U.   & Seelow, D. et al.​ (2020) 
    Nucleic Acids Research,.​ DOI: https://doi.org/10.1093/nar/gkaa241 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article
    ​ ​Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism​
    Ehmke, N.; Cusmano-Ozog, K.; Koenig, R.; Holtgrewe, M.; Nur, B.; Mihci, E. & Babcock, H. et al.​ (2020) 
    Bone, 133 art. 115219​.​ DOI: https://doi.org/10.1016/j.bone.2019.115219 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article
    ​ ​Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation​
    Howaldt, A.; Hennig, A. F.; Rolvien, T.; Rössler, U.; Stelzer, N.; Knaus, A. & Böttger, S. et al.​ (2020) 
    Journal of Bone and Mineral Research,.​ DOI: https://doi.org/10.1002/jbmr.3995 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article
    ​ ​Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency​
    Oheim, R.; Zimmerman, K.; Maulding, N. D; Stürznickel, J.; von Kroge, S.; Kavanagh, D. & Stabach, P. R et al.​ (2020) 
    Journal of Bone and Mineral Research, 35(3) pp. 528​-539​.​ DOI: https://doi.org/10.1002/jbmr.3911 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article
    ​ ​Mice lacking plastin-3 display a specific defect of cortical bone acquisition​
    Yorgan, T. A.; Sari, H.; Rolvien, T.; Windhorst, S.; Failla, A. V.; Kornak, U.   & Oheim, R. et al.​ (2020) 
    Bone, 130 art. 115062​.​ DOI: https://doi.org/10.1016/j.bone.2019.115062 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article
    ​ ​Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early‐Onset Osteoporosis ( EOOP )​
    Stürznickel, J.; Rolvien, T.; Delsmann, A.; Butscheidt, S.; Barvencik, F.; Mundlos, S. & Schinke, T. et al.​ (2020) 
    Journal of Bone and Mineral Research, 36(2) pp. 271​-282​.​ DOI: https://doi.org/10.1002/jbmr.4197 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​TFE3 activation in a TSC1 ‐altered malignant PEComa : challenging the dichotomy of the underlying pathogenic mechanisms​
    Schmiester, M.; Dolnik, A.; Kornak, U. ; Pfitzner, B.; Hummel, M.; Treue, D. & Hartmann, A. et al.​ (2020) 
    The Journal of Pathology: Clinical Research, 7(1) pp. 3​-9​.​ DOI: https://doi.org/10.1002/cjp2.187 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals​
    Suter, A.; Santos‐Simarro, F.; Toerring, P. M.; Abad Perez, A.; Ramos‐Mejia, R.; Heath, K. E. & Huckstadt, V. et al.​ (2020) 
    American Journal of Medical Genetics Part A, 182(9) pp. 2068​-2076​.​ DOI: https://doi.org/10.1002/ajmg.a.61735 
    ​Details  DOI 
  • 2020 | Preprint
    ​ ​A CRISPR-Cas9-engineered mouse model for GPI anchor deficiency mirrors human phenotype and shows hippocampal synaptic dysfunctions​
    de los Santos, M. R.; Rivalan, M.; David, F. S.; Knaus, A.; Stumpf, A.; Velasquez, L. M.& Voigt, A. et al.​ (2020). DOI: https://doi.org/10.1101/2020.04.20.050591 
    ​Details  DOI 
  • 2020 | Preprint
    ​ ​VarFish - Collaborative and Comprehensive Variant Analysis for Diagnosis and Research​
    Holtgrewe, M.; Stolpe, O.; Nieminen, M.; Mundlos, S.; Knaus, A.; Kornak, U.  & Seelow, D. et al.​ (2020). DOI: https://doi.org/10.1101/2020.01.27.921965 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​Craniosynostosis‐microphthalmia syndrome belongs to the spectrum of BCOR ‐related disorders​
    Cinnirella, G.; Taylor, R. L.; Coco, C.; Piludu, F.; Vidiri, A.; Sinibaldi, L. & Kornak, U.  et al.​ (2020) 
    Clinical Genetics, 98(4) pp. 413​-415​.​ DOI: https://doi.org/10.1111/cge.13808 
    ​Details  DOI 
  • 2020 | Journal Article | 
    ​ ​Humangenetische Zeitenwende in der Osteologie​
    Kornak, U.   & Oheim, R.​ (2020) 
    Medizinische Genetik, 31(4) pp. 355​-356​.​ DOI: https://doi.org/10.1007/s11825-019-00270-7 
    ​Details  DOI 
  • 2020 | Journal Article | Overview | 
    ​ ​Premature aging disorders: A clinical and genetic compendium​
    Schnabel, F.; Kornak, U.   & Wollnik, B. ​ (2020) 
    Clinical Genetics, 99(1) pp. 3​-28​.​ DOI: https://doi.org/10.1111/cge.13837 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article
    ​ ​Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis​
    Rolvien, T.; Yorgan, T A; Kornak, U. ; Hermans-Borgmeyer, I.; Mundlos, S.; Schmidt, T. & Niemeier, A. et al.​ (2020) 
    Osteoarthritis and Cartilage, 28(3) pp. 334​-343​.​ DOI: https://doi.org/10.1016/j.joca.2019.12.011 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article | 
    ​ ​Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences​
    Altinbas, L.; Bormann, N.; Lehmann, D.; Jeuthe, S.; Wulsten, D.; Kornak, U.   & Robinson, P. N et al.​ (2019) 
    International Journal of Molecular Sciences, 20(23) pp. 6059​.​ DOI: https://doi.org/10.3390/ijms20236059 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article
    ​ ​Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome​
    Howaldt, A.; Nampoothiri, S.; Yesodharan, D.; Udayakumaran, S.; Subash, P. & Kornak, U. ​ (2019) 
    Journal of Human Genetics, 64(9) pp. 867​-873​.​ DOI: https://doi.org/10.1038/s10038-019-0638-9 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article | Erratum | 
    ​ ​Correction: Arterial tortuosity syndrome: 40 new families and literature review​
    Beyens, A.; Albuisson, J.; Boel, A.; Al-Essa, M.; Al-Manea, W.; Bonnet, D. & Bostan, O. et al.​ (2019) 
    Genetics in Medicine, 21(8) pp. 1894​-1895​.​ DOI: https://doi.org/10.1038/s41436-018-0035-3 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article
    ​ ​SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy​
    Fischer-Zirnsak, B.; Koenig, R.; Alisch, F.; Güneş, N.; Hausser, I.; Saha, N. & Beck-Woedl, S. et al.​ (2019) 
    Journal of Human Genetics, 64(7) pp. 609​-616​.​ DOI: https://doi.org/10.1038/s10038-019-0602-8 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article
    ​ ​Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency​
    Satapathy, A. K.; Pandey, S.; Chaudhary, M. R.; Bagga, A.; Kabra, M.; Kornak, U.   & Gupta, N.​ (2019) 
    Journal of Pediatric Genetics, 8(2) pp. 91​-94​.​ DOI: https://doi.org/10.1055/s-0038-1675781 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article
    ​ ​A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee​
    Rolvien, T.; Kornak, U. ; Schinke, T.; Amling, M. & Oheim, R.​ (2019) 
    Osteoporosis International, 30(3) pp. 685​-689​.​ DOI: https://doi.org/10.1007/s00198-018-4667-6 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article | 
    ​ ​GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution​
    Hansen, P.; Ali, S.; Blau, H.; Danis, D.; Hecht, J.; Kornak, U.   & Lupiáñez, D. G et al.​ (2019) 
    BMC Genomics, 20(1) pp. 40​.​ DOI: https://doi.org/10.1186/s12864-018-5376-4 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article | Discussion
    ​ ​Response to "Letter to the editor": ​Refers to: Serap Turan - Letter to the Editor: Dysosteosclerosis related to the unique mutation in SLC29A3​
    Kornak, U. ​ (2019) 
    Bone, 128 art. 115065​.​ DOI: https://doi.org/10.1016/j.bone.2019.115065 
    ​Details  DOI  PMID  PMC 
  • 2019 | Report
    ​ ​Osteopetrosis leading to subtotal loss of the viscerocranial bones​
    Howaldt, A.; Hennig, A.; Stelzer, N.; Böttger, S.; Zustin, J.; Oheim, R.& Amling, M. et al.​ (2019)
    ​Details 
  • 2019 | Journal Article
    ​ ​Osteopetrose​
    Kornak, U.   & Schulz, A.​ (2019) 
    Osteologie, 27(4) pp. 222​-228​.​ DOI: https://doi.org/10.1055/s-0038-1676926 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Vorläufige Ergebnisse der Gen-Panel-Diagnostik im Rahmen der Schwangerschafts-assoziierten Osteoporose (SSAO)​
    Butscheidt, S.; Tsourdi, E.; Rolvien, T.; Delsmann, A.; Hofbauer, L.; Amling, M. & Kornak, U.  et al.​ (2019) 
    Osteologie, 28(1) pp. 49​-50​.​ DOI: https://doi.org/10.1055/s-0039-1679975 
    ​Details  DOI 
  • 2019 | Preprint
    ​ ​Crowdfunded whole-genome sequencing of the celebrity cat Lil BUB identifies causal mutations for her osteopetrosis and polydactyly​
    Bridavsky, M.; Kuhl, H.; Woodruff, A.; Kornak, U. ; Timmermann, B.; Mages, N.& Lupiáñez, D. G. et al.​ (2019). DOI: https://doi.org/10.1101/556761 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Loss of mechanosensitivity in a mouse model for gerodermia osteodysplastica due to an altered lacuno-canalicular osteocyte network​
    Kornak, U. ; Thelen, M.; Chan, W.; Duda, G.; Willie, B.; Roschger, A. & Weinkamer, R.​ (2019) 
    Osteologie, 28(1) pp. 50​.​ DOI: https://doi.org/10.1055/s-0039-1679976 
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​Monogene frühmanifeste Osteoporose und Altersosteoporose – ein Kontinuum​
    Kornak, U.   & Oheim, R.​ (2019) 
    Medizinische Genetik, 31(4) pp. 383​-390​.​ DOI: https://doi.org/10.1007/s11825-019-00273-4 
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​PEDIA: prioritization of exome data by image analysis​
    Hsieh, T.-C.; Mensah, M. A; Pantel, J. T; Aguilar, D.; Bar, O.; Bayat, A. & Becerra-Solano, L. et al.​ (2019) 
    Genetics in Medicine, 21(12) pp. 2807​-2814​.​ DOI: https://doi.org/10.1038/s41436-019-0566-2 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article
    ​ ​Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders​
    Fischer-Zirnsak, B.; Segebrecht, L.; Schubach, M.; Charles, P.; Alderman, E.; Brown, K. & Cadieux-Dion, M. et al.​ (2019) 
    The American Journal of Human Genetics, 105(3) pp. 631​-639​.​ DOI: https://doi.org/10.1016/j.ajhg.2019.07.002 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article
    ​ ​Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1​
    Howaldt, A.; Nampoothiri, S.; Quell, L.-M.; Ozden, A.; Fischer-Zirnsak, B.; Collet, C. & de Vernejoul, M.-C. et al.​ (2019) 
    Bone, 120 pp. 495​-503​.​ DOI: https://doi.org/10.1016/j.bone.2018.12.002 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article
    ​ ​Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis​
    Hennig, A. F.; Rössler, U.; Boiti, F.; von der Hagen, M.; Gossen, M.; Kornak, U.   & Stachelscheid, H.​ (2019) 
    Stem Cell Research, 35 art. 101367​.​ DOI: https://doi.org/10.1016/j.scr.2018.101367 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article | 
    ​ ​GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation​
    Witkos, T. M; Chan, W. L.; Joensuu, M.; Rhiel, M.; Pallister, E.; Thomas-Oates, J. & Mould, A P. et al.​ (2019) 
    Nature Communications, 10(1) pp. 127​.​ DOI: https://doi.org/10.1038/s41467-018-08044-6 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article
    ​ ​Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI​
    Fortugno, P.; Angelucci, F.; Cestra, G.; Camerota, L.; Ferraro, A. S.; Cordisco, S. & Uccioli, L. et al.​ (2019) 
    Human Mutation, 40(1) pp. 106​-114​.​ DOI: https://doi.org/10.1002/humu.23678 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​Congenital disorders of glycosylation (CDG): Quo vadis?​
    Péanne, R.; de Lonlay, P.; Foulquier, F.; Kornak, U. ; Lefeber, D. J; Morava, E. & Pérez, B. et al.​ (2018) 
    European Journal of Medical Genetics, 61(11) pp. 643​-663​.​ DOI: https://doi.org/10.1016/j.ejmg.2017.10.012 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1​
    Piard, J.; Lespinasse, J.; Vlckova, M.; Mensah, M.; Lurian, S.; Simandlova, M. & Malikova, M. et al.​ (2018) 
    American Journal of Medical Genetics. Part A, 176A pp. 668​-675​.​ DOI: https://doi.org/10.1002/ajmg.a.38604 
    ​Details  DOI 
  • 2018 | Journal Article
    ​ ​Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II)​
    Butscheidt, S.; Rolvien, T.; Kornak, U. ; Schmidt, F. N; Schinke, T.; Amling, M. & Oheim, R.​ (2018) 
    Calcified Tissue International, 102(1) pp. 41​-52​.​ DOI: https://doi.org/10.1007/s00223-017-0332-x 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation​
    Geissler, S.; Textor, M.; Stumpp, S.; Seitz, S.; Lekaj, A.; Brunk, S. & Klaassen, S. et al.​ (2018) 
    PLoS One, 13(6) art. e0198510​.​ DOI: https://doi.org/10.1371/journal.pone.0198510 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​Arterial tortuosity syndrome: 40 new families and literature review​
    Beyens, A.; Albuisson, J.; Boel, A.; Al-Essa, M.; Al-Manea, W.; Bonnet, D. & Bostan, O. et al.​ (2018) 
    Genetics in Medicine, 20(10) pp. 1236​-1245​.​ DOI: https://doi.org/10.1038/gim.2017.253 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome​
    Ramaekers, V T.; Segers, K.; Sequeira, J M; Koenig, M.; Van Maldergem, L.; Bours, V. & Kornak, U.  et al.​ (2018) 
    Molecular Genetics and Metabolism, 124(1) pp. 87​-93​.​ DOI: https://doi.org/10.1016/j.ymgme.2018.03.001 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome​
    Castori, M.; Ott, C.-E.; Bisceglia, L.; Leone, M. P.; Mazza, T.; Castellana, S. & Tomassi, J. et al.​ (2018) 
    American Journal of Medical Genetics. Part A, 176(9) pp. 2028​-2033​.​ DOI: https://doi.org/10.1002/ajmg.a.40379 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis​
    Rolvien, T.; Stürznickel, J.; Schmidt, F. N; Butscheidt, S.; Schmidt, T.; Busse, B. & Mundlos, S. et al.​ (2018) 
    Calcified Tissue International, 103(5) pp. 512​-521​.​ DOI: https://doi.org/10.1007/s00223-018-0447-8 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand​
    Luther, J.; Yorgan, T. A.; Rolvien, T.; Ulsamer, L.; Koehne, T.; Liao, N. & Keller, D. et al.​ (2018) 
    Science Translational Medicine, 10(466) art. eaau7137​.​ DOI: https://doi.org/10.1126/scitranslmed.aau7137 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica​
    Chan, W. L.; Steiner, M.; Witkos, T.; Egerer, J.; Busse, B.; Mizumoto, S. & Pestka, J. M et al.​ (2018) 
    PLoS Genetics, 14(3) art. e1007242​.​ DOI: https://doi.org/10.1371/journal.pgen.1007242 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses​
    Khayal, L. A.; Grünhagen, J.; Provazník, I.; Mundlos, S.; Kornak, U. ; Robinson, P. N & Ott, C.-E.​ (2018) 
    Bone, 113 pp. 29​-40​.​ DOI: https://doi.org/10.1016/j.bone.2018.04.006 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta​
    Mrosk, J.; Bhavani, G. S.; Shah, H.; Hecht, J.; Krüger, U.; Shukla, A. & Kornak, U.  et al.​ (2018) 
    Bone, 110 pp. 368​-377​.​ DOI: https://doi.org/10.1016/j.bone.2018.02.029 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern​
    Rolvien, T.; Kornak, U. ; Stürznickel, J.; Schinke, T.; Amling, M.; Mundlos, S. & Oheim, R.​ (2018) 
    Osteoporosis International, 29(1) pp. 243​-246​.​ DOI: https://doi.org/10.1007/s00198-017-4224-8 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Examining tissue composition, whole-bone morphology and mechanical behavior of GorabPrx1 mice tibiae: A mouse model of premature aging​
    Yang, H.; Albiol, L.; Chan, W.-L.; Wulsten, D.; Seliger, A.; Thelen, M. & Thiele, T. et al.​ (2017) 
    Journal of Biomechanics, 65 pp. 145​-153​.​ DOI: https://doi.org/10.1016/j.jbiomech.2017.10.018 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities​
    Horn, D.; Siebert, E.; Seidel, U.; Rost, I.; Mayer, K.; Abou Jamra, R. & Mitter, D. et al.​ (2017) 
    American Journal of Medical Genetics. Part A, 173(9) pp. 2534​-2538​.​ DOI: https://doi.org/10.1002/ajmg.a.38345 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms​
    Afzal, M.; Zaman, Q.; Kornak, U. ; Mundlos, S.; Malik, S. & Flöttmann, R.​ (2017) 
    European Journal of Medical Genetics, 60(8) pp. 421​-425​.​ DOI: https://doi.org/10.1016/j.ejmg.2017.05.004 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus​
    Schoner, K.; Bald, R.; Horn, D.; Rehder, H.; Kornak, U.   & Ehmke, N.​ (2017) 
    American Journal of Medical Genetics. Part A, 173(6) pp. 1694​-1697​.​ DOI: https://doi.org/10.1002/ajmg.a.38209 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Disruption of the vacuolar-type H+-ATPase complex in liver causes MTORC1-independent accumulation of autophagic vacuoles and lysosomes​
    Kissing, S.; Rudnik, S.; Damme, M.; Lüllmann-Rauch, R.; Ichihara, A.; Kornak, U.   & Eskelinen, E.-L. et al.​ (2017) 
    Autophagy, 13(4) pp. 670​-685​.​ DOI: https://doi.org/10.1080/15548627.2017.1280216 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article | 
    ​ ​A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa​
    Al-Bughaili, M.; Neuhann, T. M; Flöttmann, R.; Mundlos, S.; Spielmann, M.; Kornak, U.   & Fischer-Zirnsak, B.​ (2017) 
    Journal of Human Genetics, 62(2) pp. 325​-328​.​ DOI: https://doi.org/10.1038/jhg.2016.111 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Osteoporose - Symptom seltener genetischer Erkrankungen​
    Kornak, U. ​ (2017) 
    Osteologie, 18(4) pp. 269​-274​.​ DOI: https://doi.org/10.1055/s-0037-1619906 
    ​Details  DOI 
  • 2017 | Report
    ​ ​Altered Bone Formation Response to Mechanical Loading in a Mouse Model of the Progeroid Disorder Gerodermia Osteodysplastica​
    Yang, H.; Seliger, A.; Thelen, M.; Chan, W.-L.; Kornak, U.  & Willie, B.​ (2017)
    ​Details 
  • 2017 | Journal Article
    ​ ​Next generation sequencing and genome editing, game changers in the field of skeletal research​
    Kornak, U. ​ (2017) 
    Bone Abstracts, 6 art. IS08​.​ DOI: https://doi.org/10.1530/boneabs.6.IS08 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Mutationsanalyse erbringt den Nachweis von Monogenetischen Knochenerkrankungen bei Frauen mit suspekter Schwangerschafts-assoziierter Osteoporose (SSAO)​
    Butscheidt, S.; Delsman, A.; Rolvien, T.; Mundlos, S.; Kornak, U. ; Amling, M. & Oheim, R.​ (2017) 
    Zeitschrift für Geburtshilfe und Neonatologie, 221(1) pp. E1​-E113​.​ DOI: https://doi.org/10.1055/s-0037-1607858 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis​
    Rolvien, T.; Koehne, T.; Kornak, U. ; Lehmann, W.; Amling, M.; Schinke, T. & Oheim, R.​ (2017) 
    Journal of Bone and Mineral Research, 32(2) pp. 277​-284​.​ DOI: https://doi.org/10.1002/jbmr.2980 
    ​Details  DOI  PMID  PMC  WoS 
  • 2017 | Journal Article | 
    ​ ​Sost deficiency led to a greater cortical bone formation response to mechanical loading and altered gene expression​
    Pflanz, D.; Birkhold, A. I; Albiol, L.; Thiele, T.; Julien, C.; Seliger, A. & Thomson, E. et al.​ (2017) 
    Scientific Reports, 7(1) pp. 9435​.​ DOI: https://doi.org/10.1038/s41598-017-09653-9 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article | Research Paper
    ​ ​De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction​
    Ehmke, N.; Graul-Neumann, L.; Smorag, L. ; Koenig, R.; Segebrecht, L.; Magoulas, P. & Scaglia, F. et al.​ (2017) 
    The American Journal of Human Genetics, 101(5) pp. 833​-843​.​ DOI: https://doi.org/10.1016/j.ajhg.2017.09.016 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa​
    Van Damme, T.; Gardeitchik, T.; Mohamed, M.; Guerrero-Castillo, S.; Freisinger, P.; Guillemyn, B. & Kariminejad, A. et al.​ (2017) 
    The American Journal of Human Genetics, 100(2) pp. 216​-227​.​ DOI: https://doi.org/10.1016/j.ajhg.2016.12.010 
    ​Details  DOI  PMID  PMC 
  • 2016 | Journal Article
    ​ ​An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing​
    Mackenroth, L.; Fischer-Zirnsak, B.; Egerer, J.; Hecht, J.; Kallinich, T.; Stenzel, W. & Spors, B. et al.​ (2016) 
    American Journal of Medical Genetics. Part A, 170A(4) pp. 1080​-1085​.​ DOI: https://doi.org/10.1002/ajmg.a.37547 
    ​Details  DOI  PMID  PMC 
  • 2016 | Journal Article
    ​ ​Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients​
    Rudnik-Schöneborn, S.; Tölle, D.; Senderek, J.; Eggermann, K.; Elbracht, M.; Kornak, U.   & von der Hagen, M. et al.​ (2016) 
    Clinical Genetics, 89(1) pp. 34​-43​.​ DOI: https://doi.org/10.1111/cge.12594 
    ​Details  DOI  PMID  PMC 
  • 2016 | Journal Article
    ​ ​Novel FBLN5 Mutation of Congenital Autosomal Recessive Cutis Laxa With Isolated Right Ventricular Non-Compaction (RVNC): New Findings on Echocardiographic Speckle-Tracking Strain Imaging of RVNC​
    Malakan Rad, E.; Zeinaloo, A.-A.; Kariminejad, A.; Kornak, U. ; Fischer-Zirnsak, B. & Mohamadpour, M.​ (2016) 
    Iranian Journal of Pediatrics,.​ DOI: https://doi.org/10.5812/ijp.6135 
    ​Details  DOI 
  • 2016 | Journal Article
    ​ ​The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface​
    Seifert, W.; Posor, Y.; Schu, P.; Stenbeck, G.; Mundlos, S.; Klaassen, S. & Nürnberg, P. et al.​ (2016) 
    Human Molecular Genetics, 25(17) pp. 3836​-3848​.​ DOI: https://doi.org/10.1093/hmg/ddw230 
    ​Details  DOI  PMID  PMC 
  • 2015 | Journal Article
    ​ ​Key features and clinical variability of COG6-CDG​
    Rymen, D.; Winter, J.; Van Hasselt, P. M; Jaeken, J.; Kasapkara, C.; Gokçay, G. & Haijes, H. et al.​ (2015) 
    Molecular Genetics and Metabolism, 116(3) pp. 163​-170​.​ DOI: https://doi.org/10.1016/j.ymgme.2015.07.003 
    ​Details  DOI  PMID  PMC 
  • 2015 | Journal Article
    ​ ​GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting​
    Egerer, J.; Emmerich, D.; Fischer-Zirnsak, B.; Chan, W. L.; Meierhofer, D.; Tuysuz, B. & Marschner, K. et al.​ (2015) 
    Journal of Investigative Dermatology, 135(10) pp. 2368​-2376​.​ DOI: https://doi.org/10.1038/jid.2015.192 
    ​Details  DOI  PMID  PMC 
  • 2015 | Journal Article
    ​ ​Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa​
    Fischer-Zirnsak, B.; Escande-Beillard, N.; Ganesh, J.; Tan, Y. X.; Al Bughaili, M.; Lin, A. E & Sahai, I. et al.​ (2015) 
    The American Journal of Human Genetics, 97(3) pp. 483​-492​.​ DOI: https://doi.org/10.1016/j.ajhg.2015.08.001 
    ​Details  DOI  PMID  PMC 
  • 2015 | Journal Article | 
    ​ ​Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome​
    Kolanczyk, M.; Krawitz, P.; Hecht, J.; Hupalowska, A.; Miaczynska, M.; Marschner, K. & Schlack, C. et al.​ (2015) 
    European Journal of Human Genetics, 23(5) pp. 633​-638​.​ DOI: https://doi.org/10.1038/ejhg.2014.109 
    ​Details  DOI  PMID  PMC 
  • 2015 | Journal Article
    ​ ​Mutations in patients with osteogenesis imperfecta from consanguineous Indian families​
    Stephen, J.; Girisha, K. M.; Dalal, A.; Shukla, A.; Shah, H.; Srivastava, P. & Kornak, U.  et al.​ (2015) 
    European Journal of Medical Genetics, 58(1) pp. 21​-27​.​ DOI: https://doi.org/10.1016/j.ejmg.2014.10.001 
    ​Details  DOI  PMID  PMC 
  • 2015 | Book Chapter
    ​ ​ATP6V0A2-related cutis laxa​
    Maldergem, L.; Dobyns, W.& Kornak, U. ​ (2015)
    In:​Pagon, Roberta A.; Bird, Thomas D.; Dolan, Cynthia R.; Stephens, Karen; Adam, Margaret P.​ (Eds.), GeneReviews. 
    ​Details 
  • 2015 | Journal Article
    ​ ​The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity​
    Goyal, M.; Singh, A.; Kornak, U.   & Kapoor, S.​ (2015) 
    Indian Journal of Dermatology, 60(5) pp. 521​.​ DOI: https://doi.org/10.4103/0019-5154.164434 
    ​Details  DOI  PMID  PMC 
  • 2014 | Journal Article
    ​ ​Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome​
    Ehmke, N.; Caliebe, A.; Koenig, R.; Kant, S. G; Stark, Z.; Cormier-Daire, V. & Wieczorek, D. et al.​ (2014) 
    The American Journal of Human Genetics, 95(6) pp. 763​-770​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.11.004 
    ​Details  DOI  PMID  PMC 
  • 2014 | Journal Article
    ​ ​Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome​
    Zemojtel, T.; Köhler, S.; Mackenroth, L.; Jäger, M.; Hecht, J.; Krawitz, P. & Graul-Neumann, L. et al.​ (2014) 
    Science Translational Medicine, 6(252) art. 252ra123​.​ DOI: https://doi.org/10.1126/scitranslmed.3009262 
    ​Details  DOI  PMID  PMC 
  • 2014 | Journal Article
    ​ ​Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1​
    Fischer, B.; Callewaert, B.; Schröter, P.; Coucke, P. J; Schlack, C.; Ott, C.-E. & Morroni, M. et al.​ (2014) 
    Molecular Genetics and Metabolism, 112(4) pp. 310​-316​.​ DOI: https://doi.org/10.1016/j.ymgme.2014.05.003 
    ​Details  DOI  PMID  PMC 
  • 2014 | Journal Article | 
    ​ ​Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa​
    Gardeitchik, T.; Mohamed, M.; Fischer, B.; Lammens, M.; Lefeber, D.; Lace, B. & Parker, M. et al.​ (2014) 
    European Journal of Human Genetics, 22(7) pp. 888​-895​.​ DOI: https://doi.org/10.1038/ejhg.2013.154 
    ​Details  DOI  PMID  PMC 
  • 2014 | Journal Article
    ​ ​Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions​
    Weinert, S.; Jabs, S.; Hohensee, S.; Chan, W. L.; Kornak, U.   & Jentsch, T. J​ (2014) 
    EMBO Reports, 15(7) pp. 784​-791​.​ DOI: https://doi.org/10.15252/embr.201438553 
    ​Details  DOI  PMID  PMC 
  • 2014 | Journal Article
    ​ ​Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients​
    Greally, M. T; Kalis, N. N; Agab, W.; Ardati, K.; Giurgea, S.; Kornak, U.   & Van Maldergem, L.​ (2014) 
    American Journal of Medical Genetics. Part A, 164A(5) pp. 1245​-1253​.​ DOI: https://doi.org/10.1002/ajmg.a.36411 
    ​Details  DOI  PMID  PMC 
  • 2014 | Journal Article
    ​ ​Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene​
    Jacquinet, A.; Verloes, A.; Callewaert, B.; Coremans, C.; Coucke, P.; de Paepe, A. & Kornak, U.  et al.​ (2014) 
    European Journal of Medical Genetics, 57(5) pp. 230​-234​.​ DOI: https://doi.org/10.1016/j.ejmg.2014.02.012 
    ​Details  DOI  PMID  PMC 
  • 2014 | Journal Article
    ​ ​CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals​
    Barvencik, F.; Kurth, I.; Koehne, T.; Stauber, T.; Zustin, J.; Tsiakas, K. & Ludwig, C. F et al.​ (2014) 
    Journal of Bone and Mineral Research, 29(4) pp. 982​-991​.​ DOI: https://doi.org/10.1002/jbmr.2100 
    ​Details  DOI  PMID  PMC 
  • 2014 | Journal Article
    ​ ​ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion​
    Supanchart, C.; Wartosch, L.; Schlack, C.; Kühnisch, J.; Felsenberg, D.; Fuhrmann, J C & de Vernejoul, M.-C. et al.​ (2014) 
    Bone, 58 pp. 92​-102​.​ DOI: https://doi.org/10.1016/j.bone.2013.09.022 
    ​Details  DOI  PMID  PMC 
  • 2014 | Journal Article
    ​ ​Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3​
    Kornak, U. ; Mademan, I.; Schinke, M.; Voigt, M. & Krawitz, P.​ (2014) 
    Brain: A Journal of Neurology,.​
    ​Details 
  • 2014 | Journal Article
    ​ ​Role of TRPC channels in rheumatic diseases​
    Umlauf, D.; Lindeman, O.; Harrach, S.; Frank, S.; Dankbar, B.; Hidding, H. & Cromme, C. et al.​ (2014) 
    Zeitschrift für Rheumatologie, 73 pp. 6​.​
    ​Details 
  • 2014 | Report
    ​ ​Gene Panel Diagnostics for Disorders with Abnormal Bone Mass: Results From 50 Patients​
    Kornak, U. ; Oheim, R.; Krawitz, P.; Zemojtel, T.; Amling, M.; Mundlos, S.& Robinson, P.​ (2014)
    ​Details 
  • 2014 | Journal Article
    ​ ​OP0041 Essential role for TRPC1 channels in osteoclast fusion and in osteoporotic bone loss​
    Umlauf, D.; Hidding, H.; Lindemann, L.; Frank, S.; Dankbar, B.; Cromme, C. & Rupp, M. et al.​ (2014) 
    Annals of the Rheumatic Diseases, 71(Suppl. 3) pp. 66​-67​.​ DOI: https://doi.org/10.1136/annrheumdis-2012-eular.1724 
    ​Details  DOI 
  • 2014 | Journal Article
    ​ ​Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1​
    Kühnisch, J.; Seto, J.; Lange, C.; Schrof, S.; Stumpp, S.; Kobus, K. & Grohmann, J. et al.​ (2014) 
    PLoS One, 9(1) art. e86115​.​ DOI: https://doi.org/10.1371/journal.pone.0086115 
    ​Details  DOI  PMID  PMC 
  • 2013 | Journal Article
    ​ ​Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1​
    Ott, C.-E.; Fischer, B.; Schröter, P.; Richter, R.; Gupta, N.; Verma, N. & Kabra, M. et al.​ (2013) 
    Bone, 55(2) pp. 292​-297​.​ DOI: https://doi.org/10.1016/j.bone.2013.04.007 
    ​Details  DOI  PMID  PMC 
  • 2013 | Journal Article
    ​ ​SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity​
    Pangrazio, A.; Fasth, A.; Sbardellati, A.; Orchard, P. J; Kasow, K. A; Raza, J. & Albayrak, C. et al.​ (2013) 
    Journal of Bone and Mineral Research, 28(5) pp. 1041​-1049​.​ DOI: https://doi.org/10.1002/jbmr.1849 
    ​Details  DOI  PMID  PMC 
  • 2013 | Journal Article
    ​ ​Inactivation of anoctamin-6/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues​
    Ehlen, H. W A; Chinenkova, M.; Moser, M.; Munter, H.-M.; Krause, Y.; Gross, S. & Brachvogel, B. et al.​ (2013) 
    Journal of Bone and Mineral Research, 28(2) pp. 246​-259​.​ DOI: https://doi.org/10.1002/jbmr.1751 
    ​Details  DOI  PMID  PMC 
  • 2013 | Journal Article
    ​ ​Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa​
    Callewaert, B.; Su, C.-T.; Van Damme, T.; Vlummens, P.; Malfait, F.; Vanakker, O. & Schulz, B. et al.​ (2013) 
    Human Mutation, 34(1) pp. 111​-121​.​ DOI: https://doi.org/10.1002/humu.22165 
    ​Details  DOI  PMID  PMC 
  • 2013 | Journal Article
    ​ ​Monogene Ionenkanalerkrankungen des Knochens​
    Stauber, T.; Horn, D. & Kornak, U. ​ (2013) 
    Medizinische Genetik, 25(4) pp. 493​-500​.​ DOI: https://doi.org/10.1007/s11825-013-0420-x 
    ​Details  DOI 
  • 2013 | Journal Article
    ​ ​Long bone fragility in NF1 is due to deficiency of architecture, micro-structure and matrix mineralization​
    Kuhnisch, J.; Seto, J.; Lange, C.; Schrof, S.; Stumpp, S.; Kobus, K. & Grohmann, J. et al.​ (2013) 
    Bone Abstracts, 1 art. PP454​.​ DOI: https://doi.org/10.1530/boneabs.1.PP454 
    ​Details  DOI 
  • 2013 | Journal Article | Research Paper
    ​ ​Mutations in WNT1 Cause Different Forms of Bone Fragility​
    Keupp, K.; Beleggia, F.; Kayserili, H.; Barnes, A. M.; Steiner, M.; Semler, O. & Fischer, B. et al.​ (2013) 
    American journal of human genetics, 92(4) pp. 565​-574​.​ DOI: https://doi.org/10.1016/j.ajhg.2013.02.010 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa​
    Dimopoulou, A.; Fischer, B.; Gardeitchik, T.; Schroeter, P.; Kayserili, H.; Schlack, C. & Li, Y.  et al.​ (2013) 
    Molecular Genetics and Metabolism, 110(3) pp. 352​-361​.​ DOI: https://doi.org/10.1016/j.ymgme.2013.08.009 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article
    ​ ​The antimicrobial peptide, LL-37, inhibits in vitro osteoclastogenesis​
    Supanchart, C.; Thawanaphong, S.; Makeudom, A.; Bolscher, J G; Nazmi, K.; Kornak, U.   & Krisanaprakornkit, S.​ (2012) 
    Journal of Dental Research, 91(11) pp. 1071​-1077​.​ DOI: https://doi.org/10.1177/0022034512460402 
    ​Details  DOI  PMID  PMC 
  • 2012 | Journal Article
    ​ ​Further characterization of ATP6V0A2-related autosomal recessive cutis laxa​
    Fischer, B.; Dimopoulou, A.; Egerer, J.; Gardeitchik, T.; Kidd, A.; Jost, D. & Kayserili, H. et al.​ (2012) 
    Human Genetics (Berlin), 131(11) pp. 1761​-1773​.​ DOI: https://doi.org/10.1007/s00439-012-1197-8 
    ​Details  DOI  PMID  PMC 
  • 2012 | Journal Article
    ​ ​Kongenitale autosomal rezessive Cutis laxa Typ II A Wrinkly-Skin-Syndrom​
    Tantcheva-Poor, I.; Schuster, A.; Kornak, U. ; Chelius, K. & Mauch, C.​ (2012) 
    Klinische Pädiatrie, 224(5) pp. 322​-323​.​ DOI: https://doi.org/10.1055/s-0032-1312677 
    ​Details  DOI  PMID  PMC 
  • 2012 | Journal Article
    ​ ​A rare cause of a relatively common neonatal emergency​
    Guran, T.; Karasu, G. T.; Degirmenci, S.; Say, A.; Guran, O.; Paketci, A. T. & Kornak, U. ​ (2012) 
    Pediatric Hematology and Oncology, 29(4) pp. 365​-367​.​ DOI: https://doi.org/10.3109/08880018.2011.630441 
    ​Details  DOI  PMID  PMC 
  • 2012 | Journal Article
    ​ ​De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction​
    Zampatti, S.; Castori, M.; Fischer, B.; Ferrari, P.; Garavelli, L.; Dionisi-Vici, C. & Agolini, E. et al.​ (2012) 
    American Journal of Medical Genetics. Part A, 158A(4) pp. 927​-931​.​ DOI: https://doi.org/10.1002/ajmg.a.35231 
    ​Details  DOI  PMID  PMC 
  • 2012 | Journal Article
    ​ ​RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations​
    Pangrazio, A.; Cassani, B.; Guerrini, M. M; Crockett, J. C; Marrella, V.; Zammataro, L. & Strina, D. et al.​ (2012) 
    Journal of Bone and Mineral Research, 27(2) pp. 342​-351​.​ DOI: https://doi.org/10.1002/jbmr.559 
    ​Details  DOI  PMID  PMC 
  • 2012 | Journal Article
    ​ ​Transient receptor potential canonical channel 1 dependent pathways are required for osteoclast fusion and mediate osteoporotic bone loss​
    Umlauf, D.; Hidding, H.; Lindemann, O.; Dankbar, B.; Frank, S.; Cromme, C. & Dietrich, A. et al.​ (2012) 
    Annals of the Rheumatic Diseases, 71(Suppl. 1) pp. A67.2​-A67​.​ DOI: https://doi.org/10.1136/annrheumdis-2011-201237.16 
    ​Details  DOI 
  • 2012 | Journal Article
    ​ ​Progeroide autosomal-rezessive Cutis-laxa-Syndrome​
    Kornak, U. ​ (2012) 
    Medizinische Genetik, 24(4) pp. 273​-278​.​ DOI: https://doi.org/10.1007/s11825-012-0353-9 
    ​Details  DOI 
  • 2012 | Journal Article
    ​ ​Osteoporosis in gerodermia osteodysplastica is due to osteoblast impairment​
    Kornak, U. ; Chan, H. W. L.; Steiner, M.; Chan, D. & Mundlos, S.​ (2012) 
    Bone, 50 pp. S179​.​ DOI: https://doi.org/10.1016/j.bone.2012.02.565 
    ​Details  DOI 
  • 2012 | Journal Article | 
    ​ ​Progeroide Erkrankungen und ihre Mechanismen​
    Wollnik, B.   & Kornak, U. ​ (2012) 
    Medizinische Genetik, 24(4) pp. 253​-256​.​ DOI: https://doi.org/10.1007/s11825-012-0350-z 
    ​Details  DOI 
  • 2011 | Journal Article
    ​ ​Animal models with pathological mineralization phenotypes​
    Kornak, U. ​ (2011) 
    Joint Bone Spine, 78(6) pp. 561​-567​.​ DOI: https://doi.org/10.1016/j.jbspin.2011.03.020 
    ​Details  DOI  PMID  PMC 
  • 2011 | Journal Article
    ​ ​Metabolic cutis laxa syndromes​
    Mohamed, M.; Kouwenberg, D.; Gardeitchik, T.; Kornak, U. ; Wevers, R. A & Morava, E.​ (2011) 
    Journal of Inherited Metabolic Disease, 34(4) pp. 907​-916​.​ DOI: https://doi.org/10.1007/s10545-011-9305-9 
    ​Details  DOI  PMID  PMC 
  • 2011 | Journal Article
    ​ ​Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS)​
    Skidmore, D. L; Chitayat, D.; Morgan, T.; Hinek, A.; Fischer, B.; Dimopoulou, A. & Somers, G. et al.​ (2011) 
    American Journal of Medical Genetics. Part A, 155A(8) pp. 1848​-1856​.​ DOI: https://doi.org/10.1002/ajmg.a.34057 
    ​Details  DOI  PMID  PMC 
  • 2011 | Journal Article
    ​ ​Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family​
    Morava, E.; Kühnisch, J.; Drijvers, J. M; Robben, J. H; Cremers, C.; van Setten, P. & Branten, A. et al.​ (2011) 
    The Journal of Clinical Endocrinology & Metabolism, 96(1) pp. E189​-E198​.​ DOI: https://doi.org/10.1210/jc.2010-1539 
    ​Details  DOI  PMID  PMC 
  • 2011 | Journal Article
    ​ ​Intermediate osteopetrosis upon loss of H+−driven lysosomal CL-accumulation​
    Kornak, U. ; Weinert, S.; Jabs, S.; Supanchart, C.; Schweizer, M.; Gimber, N. & Richter, M. et al.​ (2011) 
    Bone, 48 pp. S136​.​ DOI: https://doi.org/10.1016/j.bone.2011.03.280 
    ​Details  DOI 
  • 2011 | Report
    ​ ​Trophoblast Development Is Compromised By The Mitochondrial Dysfunction​
    Kolanczyk, M.; Pech, M.; Zemojtel, T.; Yamamoto, H.; Mikula, I.; Calvaruso, M.-A.& Richter-Dennerlein, R.  et al.​ (2011)
    ​Details 
  • 2011 | Monograph
    ​ ​The Role Of Osteocytes In The Skeletal Pathology Of Neurofibromatosis Type I (Nf1)​ ​
    Kühnisch, J.; Lange, C.; Seto, J.; Grohmann, J.; Stumpp, S.; Stevenson, D.& Elefteriou, F. et al.​ (2011)
    ​Details 
  • 2011 | Journal Article
    ​ ​Modèles animaux avec phénotypes pathologiques de minéralisation​
    Kornak, U. ​ (2011) 
    Revue du Rhumatisme, 78(6) pp. 512​-518​.​ DOI: https://doi.org/10.1016/j.rhum.2011.09.005 
    ​Details  DOI 
  • 2010 | Journal Article
    ​ ​MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking​
    Albrecht, B.; de Brouwer, A. P; Lefeber, D. J; Cremer, K.; Hausser, I.; Rossen, N. & Wortmann, S. B et al.​ (2010) 
    American Journal of Medical Genetics. Part A, 152A(11) pp. 2916​-2918​.​ DOI: https://doi.org/10.1002/ajmg.a.33712 
    ​Details  DOI  PMID  PMC 
  • 2010 | Journal Article
    ​ ​Severe developmental bone phenotype in ClC-7 deficient mice​
    Neutzsky-Wulff, A V; Sims, N A; Supanchart, C.; Kornak, U. ; Felsenberg, D.; Poulton, I J & Martin, T J et al.​ (2010) 
    Developmental Biology, 344(2) pp. 1001​-1010​.​ DOI: https://doi.org/10.1016/j.ydbio.2010.06.018 
    ​Details  DOI  PMID  PMC 
  • 2010 | Journal Article
    ​ ​Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome​
    Brancati, F.; Fortugno, P.; Bottillo, I.; Lopez, M.; Josselin, E.; Boudghene-Stambouli, O. & Agolini, E. et al.​ (2010) 
    The American Journal of Human Genetics, 87(2) pp. 265​-273​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.07.003 
    ​Details  DOI  PMID  PMC 
  • 2010 | Journal Article
    ​ ​Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation​
    Weinert, S.; Jabs, S.; Supanchart, C.; Schweizer, M.; Gimber, N.; Richter, M. & Rademann, J. et al.​ (2010) 
    Science, 328(5984) pp. 1401​-1403​.​ DOI: https://doi.org/10.1126/science.1188072 
    ​Details  DOI  PMID  PMC 
  • 2010 | Journal Article
    ​ ​Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss​
    Kornak, U. ; Brancati, F.; Le Merrer, M.; Lichtenbelt, K.; Höhne, W.; Tinschert, S. & Garaci, F. G. et al.​ (2010) 
    American Journal of Medical Genetics. Part A, 152A(4) pp. 870​-874​.​ DOI: https://doi.org/10.1002/ajmg.a.33301 
    ​Details  DOI  PMID  PMC 
  • 2010 | Journal Article
    ​ ​Heritable sclerosing bone disorders: presentation and new molecular mechanisms​
    de Vernejoul, M.-C. & Kornak, U. ​ (2010) 
    Annals of the New York Academy of Sciences, 1192(1) pp. 269​-277​.​ DOI: https://doi.org/10.1111/j.1749-6632.2009.05244.x 
    ​Details  DOI  PMID  PMC 
  • 2010 | Journal Article
    ​ ​Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance​
    Reversade, B.; Escande-Beillard, N.; Dimopoulou, A.; Fischer, B.; Li, Y.; Kayserili, H. & Al-Gazali, L. et al.​ (2010) 
    Bone, 47 pp. 154​-155​.​ DOI: https://doi.org/10.1016/j.bone.2010.04.356 
    ​Details  DOI 
  • 2010 | Journal Article
    ​ ​The 2nd Berlin BedRest study: Protocol and implementation​
    Belavy, D.; Bock, O.; Börst, H.; Armbrecht, G.; Gast, U.; Degner, C. & Beller, G. et al.​ (2010) 
    Journal of Musculoskeletal and Neuronal Interactions, 10 pp. 207​-219​.​
    ​Details 
  • 2010 | Journal Article
    ​ ​Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis​
    Phadke, S.; Fischer-Zirnsak, B.; Gupta, N.; Ranganath, P.; Kabra, M. & Kornak, U. ​ (2010) 
    Indian Journal of Medical Research, 131 pp. 508​-514​.​
    ​Details 
  • 2010 | Journal Article
    ​ ​Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation​
    Kunte, H.; Trendelenburg, g.; Matzen, J.; Ventz, M.; Kornak, U.   & Harms, L.​ (2010) 
    Neuroendocrinology Letters, 31 pp. 301​-303​.​
    ​Details 
  • 2009 | Journal Article | 
    ​ ​Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?​
    Kornak, U. ​ (2009) 
    European Journal of Human Genetics, 17(9) pp. 1097​-1098​.​ DOI: https://doi.org/10.1038/ejhg.2009.59 
    ​Details  DOI  PMID  PMC 
  • 2009 | Journal Article
    ​ ​Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa​
    Guillard, M.; Dimopoulou, A.; Fischer, B.; Morava, E.; Lefeber, D. J; Kornak, U.   & Wevers, R. A​ (2009) 
    Biochimica et Biophysica Acta, 1792(9) pp. 903​-914​.​ DOI: https://doi.org/10.1016/j.bbadis.2008.12.009 
    ​Details  DOI  PMID  PMC 
  • 2009 | Journal Article
    ​ ​Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts​
    Ott, C.-E.; Bauer, S.; Manke, T.; Ahrens, S.; Rödelsperger, C.; Grünhagen, J. & Kornak, U.  et al.​ (2009) 
    Journal of Bone and Mineral Research, 24(7) pp. 1247​-1262​.​ DOI: https://doi.org/10.1359/jbmr.090206 
    ​Details  DOI  PMID  PMC 
  • 2009 | Journal Article
    ​ ​Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival​
    Hucthagowder, V.; Morava, E.; Kornak, U. ; Lefeber, D. J; Fischer, B.; Dimopoulou, A. & Aldinger, A. et al.​ (2009) 
    Human Molecular Genetics, 18(12) pp. 2149​-2165​.​ DOI: https://doi.org/10.1093/hmg/ddp148 
    ​Details  DOI  PMID  PMC 
  • 2009 | Journal Article
    ​ ​Impaired gastric acidification negatively affects calcium homeostasis and bone mass​
    Schinke, T.; Schilling, A. F; Baranowsky, A.; Seitz, S.; Marshall, R. P; Linn, T. & Blaeker, M. et al.​ (2009) 
    Nature Medicine, 15(6) pp. 674​-681​.​ DOI: https://doi.org/10.1038/nm.1963 
    ​Details  DOI  PMID  PMC 
  • 2009 | Journal Article
    ​ ​Intractable seizures in malignant infantile osteopetrosis due to CLCN7 mutation: lysosomal aspects​
    Rittinger, O. & Kornak, U. ​ (2009) 
    Neuropediatrics, 39(5).​ DOI: https://doi.org/10.1055/s-0029-1215830 
    ​Details  DOI 
  • 2009 | Journal Article
    ​ ​Osteoporosis as a symptom for rare hereditary disorders​
    Kornak, U. ​ (2009) 
    Osteologie, 18 pp. 269​-274​.​
    ​Details 
  • 2009 | Journal Article | Research Paper
    ​ ​Mutations in PYCR1 cause cutis laxa with progeroid features​
    Reversade, B.; Escande-Beillard, N.; Dimopoulou, A.; Fischer, B.; Chng, S. C.; Li, Y.   & Shboul, M. et al.​ (2009) 
    Nature Genetics, 41(9) pp. 1016​-U88​.​ DOI: https://doi.org/10.1038/ng.413 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article
    ​ ​Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin​
    Hennies, H. C.; Kornak, U. ; Zhang, H.; Egerer, J.; Zhang, X.; Seifert, W. & Kühnisch, J. et al.​ (2008) 
    Nature Genetics, 40(12) pp. 1410​-1412​.​ DOI: https://doi.org/10.1038/ng.252 
    ​Details  DOI  PMID  PMC 
  • 2008 | Journal Article | 
    ​ ​Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin​
    Kolanczyk, M.; Kühnisch, J.; Kossler, N.; Osswald, M.; Stumpp, S.; Thurisch, B. & Kornak, U.  et al.​ (2008) 
    BMC Medicine, 6(1) pp. 21​.​ DOI: https://doi.org/10.1186/1741-7015-6-21 
    ​Details  DOI  PMID  PMC 
  • 2008 | Journal Article
    ​ ​Bone remodeling: facts and perspectives​
    Marie, P.; Kornak, U.   & Teti, A.​ (2008) 
    Archives of Biochemistry and Biophysics, 473(2) pp. 97​.​ DOI: https://doi.org/10.1016/j.abb.2008.04.002 
    ​Details  DOI  PMID  PMC 
  • 2008 | Journal Article
    ​ ​Ion channels and transporters in osteoclasts​
    Supanchart, C. & Kornak, U. ​ (2008) 
    Archives of Biochemistry and Biophysics, 473(2) pp. 161​-165​.​ DOI: https://doi.org/10.1016/j.abb.2008.03.029 
    ​Details  DOI  PMID  PMC 
  • 2008 | Journal Article
    ​ ​Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman​
    Rajab, A.; Kornak, U. ; Budde, B S; Hoffmann, K.; Jaeken, J.; Nürnberg, P. & Mundlos, S.​ (2008) 
    American Journal of Medical Genetics. Part A, 146A(8) pp. 965​-976​.​ DOI: https://doi.org/10.1002/ajmg.a.32143 
    ​Details  DOI  PMID  PMC 
  • 2008 | Journal Article
    ​ ​Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2​
    Kornak, U. ; Reynders, E.; Dimopoulou, A.; van Reeuwijk, J.; Fischer, B.; Rajab, A. & Budde, B. et al.​ (2008) 
    Nature Genetics, 40(1) pp. 32​-34​.​ DOI: https://doi.org/10.1038/ng.2007.45 
    ​Details  DOI  PMID  PMC 
  • 2008 | Journal Article
    ​ ​Tibia and humerus bowing in a mouse model for neurofibromatosis type 1​
    Kühnisch, J.; Kolanczyk, M.; Stumpp, S.; Kossler, N.; Mattern, J.; Supanchart, C. & Inderchand, M. et al.​ (2008) 
    Calcified Tissue International, 82.​
    ​Details 
  • 2008 | Journal Article
    ​ ​Cutis laxa syndromes with congenital disorder of glycosylation: Clinical, biochemical and genetic review​
    Morava, É.; Guillard, M.; Rodenburg, R.; Kornak, U. ; Urban, Z.; Lefeber, D. & Wevers, R.​ (2008) 
    Journal of Inherited Metabolic Disease, 31 pp. 51​.​
    ​Details 
  • 2008 | Journal Article
    ​ ​Osteopetrosis - Current diagnostics and therapy​
    Schulz, A. & Kornak, U. ​ (2008) 
    Journal für Mineralstoffwechsel, 15 pp. 174​-182​.​
    ​Details 
  • 2007 | Journal Article
    ​ ​Multiple roles for neurofibromin in skeletal development and growth​
    Kolanczyk, M.; Kossler, N.; Kühnisch, J.; Lavitas, L.; Stricker, S.; Wilkening, U. & Manjubala, I. et al.​ (2007) 
    Human Molecular Genetics, 16(8) pp. 874​-886​.​ DOI: https://doi.org/10.1093/hmg/ddm032 
    ​Details  DOI  PMID  PMC 
  • 2007 | Journal Article
    ​ ​Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model​
    Hecht, J.; Seitz, V.; Urban, M.; Wagner, F.; Robinson, P N; Stiege, A. & Dieterich, C. et al.​ (2007) 
    Gene Expression Patterns, 7(1-2) pp. 102​-112​.​ DOI: https://doi.org/10.1016/j.modgep.2006.05.014 
    ​Details  DOI  PMID  PMC 
  • 2007 | Report
    ​ ​Diseases caused by defects in vesicular trafficking and acidification​
    Kornak, U. ​ (2007)
    ​Details 
  • 2007 | Journal Article
    ​ ​Growth defect, reduced mineralization and tibial bowing in a mouse model for neurofibromatosis type 1​
    Kühnisch, J.; Kolanczyk, M.; Stumpp, S.; Kossler, N.; Inderchand, M.; Sporle, R. & Herrman, B. et al.​ (2007) 
    Calcified Tissue International, 80 pp. S80​.​
    ​Details 
  • 2007 | Journal Article
    ​ ​Differing strain regions and shear forces under cyclic biaxial loading in the Flexercell-strain-unit​
    Ott, C.-E.; Ahrens, S.; Bleckwehl, F.; Thompson, M.; Kornak, U. ; Duda, G. & Mundlos, S.​ (2007) 
    Calcified Tissue International, 80.​
    ​Details 
  • 2007 | Journal Article
    ​ ​Reduced plasma membrane access of ANK causes craniometaphyseal dysplasia​
    Kühnisch, J.; Loebner, J.; Stumpp, S.; Epari, D.; Giehl, M.; Thiele, H. & Felsenberg, D. et al.​ (2007) 
    Calcified Tissue International, 80.​
    ​Details 
  • 2007 | Journal Article
    ​ ​CLC-7 chloride channel expression is rate limiting for the resorptive activity of osteoclasts​
    Kornak, U. ; Fuhrmann, J.; Supanchart, C.; Wartosch, L.; Kühnisch, J.; Mundlos, S. & Jentsch, T.​ (2007) 
    Calcified Tissue International, 80.​
    ​Details 
  • 2006 | Journal Article
    ​ ​Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6​
    Poët, M.; Kornak, U. ; Schweizer, M.; Zdebik, A. A; Scheel, O.; Hoelter, S. & Wurst, W. et al.​ (2006) 
    Proceedings of the National Academy of Sciences of the United States of America, 103(37) pp. 13854​-13859​.​ DOI: https://doi.org/10.1073/pnas.0606137103 
    ​Details  DOI  PMID  PMC 
  • 2006 | Journal Article
    ​ ​Tracheal atresia as part of an exceptional combination of malformations​
    Bercker, S.; Kornak, U. ; Bührer, C.; Henrich, W. & Kerner, T.​ (2006) 
    International Journal of Pediatric Otorhinolaryngology, 70(6) pp. 1137​-1139​.​ DOI: https://doi.org/10.1016/j.ijporl.2005.10.027 
    ​Details  DOI  PMID  PMC 
  • 2006 | Journal Article
    ​ ​Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II​
    Kornak, U. ; Ostertag, A.; Branger, S.; Benichou, O. & de Vernejoul, M.-C.​ (2006) 
    The Journal of Clinical Endocrinology & Metabolism, 91(3) pp. 995​-1000​.​ DOI: https://doi.org/10.1210/jc.2005-2017 
    ​Details  DOI  PMID  PMC 
  • 2006 | Journal Article
    ​ ​Full-field characterisation of mechanical strain in the Flexercell and stimulation optimization study​
    Thompson, M.; Ott, C.-E.; Ahrens, S.; Kornak, U. ; Mundlos, S. & Duda, G.​ (2006) 
    Journal of Biomechanics, 39 pp. S444​.​ DOI: https://doi.org/10.1016/S0021-9290(06)84815-3 
    ​Details  DOI 
  • 2006 | Report
    ​ ​Loss of the chloride channel ClC-7 leads to osteopetrosis, lysosomal storage and neurodegeneration​
    Wartosch, L.; Fuhrmann, J.; Kornak, U. ; Kasper, D.; Planells-Cases, R.; Lange, P.& Jentsch, T.​ (2006)
    ​Details 
  • 2005 | Journal Article
    ​ ​Cannabinoid receptor type 2 gene is associated with human osteoporosis​
    Karsak, M.; Cohen-Solal, M.; Freudenberg, J.; Ostertag, A.; Morieux, C.; Kornak, U.   & Essig, J. et al.​ (2005) 
    Human Molecular Genetics, 14(22) pp. 3389​-3396​.​ DOI: https://doi.org/10.1093/hmg/ddi370 
    ​Details  DOI  PMID  PMC 
  • 2005 | Journal Article
    ​ ​Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone​
    Smith, A. N; Jouret, F.; Bord, S.; Borthwick, K. J; Al-Lamki, R. S; Wagner, C. A & Ireland, D. C et al.​ (2005) 
    Journal of the American Society of Nephrology, 16(5) pp. 1245​-1256​.​ DOI: https://doi.org/10.1681/ASN.2004090761 
    ​Details  DOI  PMID  PMC 
  • 2005 | Journal Article
    ​ ​Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration​
    Kasper, D.; Planells-Cases, R.; Fuhrmann, J. C.; Scheel, O.; Zeitz, O.; Ruether, K. & Schmitt, A. et al.​ (2005) 
    The EMBO Journal, 24(5) pp. 1079​-1091​.​ DOI: https://doi.org/10.1038/sj.emboj.7600576 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article
    ​ ​A molecular pathogenesis for transcription factor associated poly-alanine tract expansions​
    Albrecht, A. N; Kornak, U. ; Böddrich, A.; Süring, K.; Robinson, P. N; Stiege, A. C & Lurz, R. et al.​ (2004) 
    Human Molecular Genetics, 13(20) pp. 2351​-2359​.​ DOI: https://doi.org/10.1093/hmg/ddh277 
    ​Details  DOI  PMID  PMC 
  • 2004 | Journal Article
    ​ ​Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis​
    Ramírez, A.; Faupel, J.; Goebel, I.; Stiller, A.; Beyer, S.; Stöckle, C. & Hasan, C. et al.​ (2004) 
    Human Mutation, 23(5) pp. 471​-476​.​ DOI: https://doi.org/10.1002/humu.20028 
    ​Details  DOI  PMID  PMC 
  • 2004 | Report
    ​ ​Genetics and disease mechanisms of osteopetrosis​
    Kornak, U. ​ (2004)
    ​Details 
  • 2003 | Journal Article
    ​ ​Genetic disorders of the skeleton: a developmental approach​
    Kornak, U.   & Mundlos, S.​ (2003) 
    The American Journal of Human Genetics, 73(3) pp. 447​-474​.​ DOI: https://doi.org/10.1086/377110 
    ​Details  DOI  PMID  PMC 
  • 2003 | Journal Article
    ​ ​A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis​
    Borthwick, K J; Kandemir, N.; Topaloglu, R.; Kornak, U. ; Bakkaloglu, A.; Yordam, N. & Ozen, S. et al.​ (2003) 
    Journal of Medical Genetics, 40(2) pp. 115​-121​.​ DOI: https://doi.org/10.1136/jmg.40.2.115 
    ​Details  DOI  PMID  PMC 
  • 2003 | Report
    ​ ​The ClC-7 chloride channel as a regulator of bone resorption in mice and man​
    Kornak, U. ; Kasper, D.; Schulz, A.; Delling, G.; Vernejoul, M.& Jentsch, T.​ (2003)
    ​Details 
  • 2003 | Report
    ​ ​Loss of the ClC-7 chloride channel leads to neurodegeneration resembling neuronal ceroid lipofuscinosis​
    Kasper, D.; Planells-Cases, R.; Fuhrmann, J.; Scheel, O.; Park, J.; Schweizer, M.& Kornak, U.  et al.​ (2003)
    ​Details 
  • 2001 | Journal Article
    ​ ​Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man​
    Kornak, U. ; Kasper, D.; Bösl, M. R; Kaiser, E.; Schweizer, M.; Schulz, A. & Friedrich, W. et al.​ (2001) 
    Cell, 104(2) pp. 205​-215​.​ DOI: https://doi.org/10.1016/S0092-8674(01)00206-9 
    ​Details  DOI 
  • 2001 | Thesis | Doctoral Thesis
    ​ ​Lokalisation und Funktion des Chloridkanals ClC-7 im Säugetier-Organismus​
    Kornak, U.  & Jentsch, J.​ (2001)
    Freie Universität Berlin. 
    Berlin​ DOI: https://doi.org/10.17169/refubium-4234 
    ​Details  DOI 
  • 2000 | Journal Article
    ​ ​Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis​
    Kornak, U. ; Schulz, A.; Friedrich, W.; Uhlhaas, S.; Kremens, B.; Voit, T. & Hasan, C. et al.​ (2000) 
    Human Molecular Genetics, 9(13) pp. 2059​-2063​.​ DOI: https://doi.org/10.1093/hmg/9.13.2059 
    ​Details  DOI  PMID  PMC 
  • 1999 | Journal Article
    ​ ​Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1)​
    Kornak, U. ; Bösl, M. & Kubisch, C.​ (1999) 
    Biochimica et Biophysica Acta, 1447 pp. 100​-106​.​
    ​Details 
  • 1999 | Journal Article
    ​ ​Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes 1 GenBank accession numbers: AF009247–AF009257 (human CLCN6 exons 1–23), AF030101–AF030106 (mouse CLCN6 exons 1–23), AF063098–AF063101 (mouse CLCN7 exons 1–25)​
    Kornak, U. ; Bösl, M. & Kubisch, C.​ (1999) 
    Biochimica et Biophysica Acta. Gene Structure and Expression, 1447 pp. 100​-106​.​
    ​Details 
  • 1994 | Journal Article
    ​ ​Porin proteins in mitochondria from rat pancreatic islet cells and white adipocytes: identification and regulation of hexokinase binding by the sulfonylurea glimepiride​
    Müller, G.; Korndörfer, A.; Kornak, U.   & Malaisse, W J​ (1994) 
    Archives of Biochemistry and Biophysics, 308(1) pp. 8​-23​.​ DOI: https://doi.org/10.1006/abbi.1994.1002 
    ​Details  DOI  PMID  PMC 
  • 1994 | Journal Article | Erratum
    ​ ​Erratum: ​Volume 308, Number 1 (1994), in the article "Porin Proteins in Mitochondria from Rat Pancreatic Islet Cells and White Adipocytes: Identification and Regulation of Hexokinase Binding by the Sulfonylurea Glimepiride," by Günter Müller, Andrea Korndörfer, Uwe Kornak, and Willy J. Malaisse, pages 8-23​
    Muller, G.; Korndorfer, A.; Kornak, U.   & Malaisse, W.​ (1994) 
    Archives of Biochemistry and Biophysics, 313(2) pp. 382​.​ DOI: https://doi.org/10.1006/abbi.1994.1403 
    ​Details  DOI 

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