Stebėti
Björn Fischer-Zirnsak
Pavadinimas
Cituota
Cituota
Metai
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
4162008
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
2972013
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
2802014
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
2622009
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
1612009
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
1332011
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
1112014
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
1082012
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
1062020
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
1052017
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
1052016
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
952018
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
882019
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
852009
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
802011
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
792015
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
762013
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
662011
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
642017
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
542020
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