| Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ... Nature genetics 40 (1), 32-34, 2008 | 409 | 2008 |
| Mutations in WNT1 cause different forms of bone fragility K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ... The American Journal of Human Genetics 92 (4), 565-574, 2013 | 300 | 2013 |
| Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome T Zemojtel, S Köhler, L Mackenroth, M Jäger, J Hecht, P Krawitz, ... Science translational medicine 6 (252), 252ra123-252ra123, 2014 | 282 | 2014 |
| Mutations in PYCR1 cause cutis laxa with progeroid features B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ... Nature genetics 41 (9), 1016-1021, 2009 | 265 | 2009 |
| Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival V Hucthagowder, E Morava, U Kornak, DJ Lefeber, B Fischer, ... Human molecular genetics 18 (12), 2149-2165, 2009 | 160 | 2009 |
| Faulty initiation of proteoglycan synthesis causes cardiac and joint defects S Baasanjav, L Al-Gazali, T Hashiguchi, S Mizumoto, B Fischer, D Horn, ... The American Journal of Human Genetics 89 (1), 15-27, 2011 | 137 | 2011 |
| Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation B Hartmann, T Wai, H Hu, T MacVicar, L Musante, B Fischer-Zirnsak, ... elife 5, e16078, 2016 | 112 | 2016 |
| Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation MF Howard, Y Murakami, AT Pagnamenta, C Daumer-Haas, B Fischer, ... The American Journal of Human Genetics 94 (2), 278-287, 2014 | 112 | 2014 |
| Hi-C identifies complex genomic rearrangements and TAD-shuffling in developmental diseases US Melo, R Schöpflin, R Acuna-Hidalgo, MA Mensah, B Fischer-Zirnsak, ... The American Journal of Human Genetics 106 (6), 872-884, 2020 | 107 | 2020 |
| Further characterization of ATP6V0A2-related autosomal recessive cutis laxa B Fischer, A Dimopoulou, J Egerer, T Gardeitchik, A Kidd, D Jost, ... Human genetics 131, 1761-1773, 2012 | 107 | 2012 |
| Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa T Van Damme, T Gardeitchik, M Mohamed, S Guerrero-Castillo, ... The American Journal of Human Genetics 100 (2), 216-227, 2017 | 105 | 2017 |
| Arterial tortuosity syndrome: 40 new families and literature review A Beyens, J Albuisson, A Boel, M Al-Essa, W Al-Manea, D Bonnet, ... Genetics in Medicine 20 (10), 1236-1245, 2018 | 96 | 2018 |
| PEDIA: prioritization of exome data by image analysis TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ... Genetics in Medicine 21 (12), 2807-2814, 2019 | 88 | 2019 |
| Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa M Guillard, A Dimopoulou, B Fischer, E Morava, DJ Lefeber, U Kornak, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1792 (9), 903-914, 2009 | 82 | 2009 |
| Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa B Fischer-Zirnsak, N Escande-Beillard, J Ganesh, YX Tan, M Al Bughaili, ... The American Journal of Human Genetics 97 (3), 483-492, 2015 | 81 | 2015 |
| Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1‐pyrroline‐5‐carboxylate synthase (P5CS) DL Skidmore, D Chitayat, T Morgan, A Hinek, B Fischer, A Dimopoulou, ... American journal of medical genetics Part A 155 (8), 1848-1856, 2011 | 81 | 2011 |
| Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa A Dimopoulou, B Fischer, T Gardeitchik, P Schröter, H Kayserili, ... Molecular Genetics and Metabolism 110 (3), 352-361, 2013 | 77 | 2013 |
| NOA1 is an essential GTPase required for mitochondrial protein synthesis M Kolanczyk, M Pech, T Zemojtel, H Yamamoto, I Mikula, MA Calvaruso, ... Molecular biology of the cell 22 (1), 1-11, 2011 | 67 | 2011 |
| De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction N Ehmke, L Graul-Neumann, L Smorag, R Koenig, L Segebrecht, ... The American Journal of Human Genetics 101 (5), 833-843, 2017 | 65 | 2017 |
| VarFish: comprehensive DNA variant analysis for diagnostics and research M Holtgrewe, O Stolpe, M Nieminen, S Mundlos, A Knaus, U Kornak, ... Nucleic acids research 48 (W1), W162-W169, 2020 | 55 | 2020 |
Uwe KornakUniversitaetsmedizin Göttingen在 med.uni-goettingen.de 的电子邮件经过验证
