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Carina Fischer · SciRah

Researcher profile · Semantic Scholar

Carina Fischer

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Carina Fischer — researcher profile on SciRah

h-index: 12
Works: 17
Citations: 702

Most-cited papers

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
M. Auer-Grumbach, A. Olschewski, Lea Papić, H. Kremer +21 more
2009Nature Genetics262 citations Open access
Semantic Scholar
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
C. Beetz, T. Pieber, N. Hertel, Maria Schabhüttl +11 more
2012American Journal of Human Genetics91 citations Open access
Semantic Scholar
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome
Barbara Rohkamm, M. Reilly, Hanns Lochmüller, B. Schlotter‐Weigel +14 more
2007Journal of Neurological Sciences65 citations Open access
Semantic Scholar
Establishment and detailed functional and molecular genetic characterisation of a novel sacral chordoma cell line, MUG-Chor1.
B. Rinner, E. V. Froehlich, K. Buerger, Heike Knausz +8 more
2011International Journal of Oncology64 citations Open access
Semantic Scholar
Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome
M. Auer-Grumbach, Carina Fischer, Lea Papić, E. John +11 more
2008Neuropediatrics53 citations Open access
Semantic Scholar
Chordoma Characterization of Significant Changes of the DNA Methylation Pattern
B. Rinner, A. Weinhaeusel, B. Lohberger, E. V. Froehlich +8 more
2013PLoS ONE40 citations Open access
Semantic Scholar
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
J. Senderek, P. Laššuthová, D. Kabzińska, Lisa Abreu +53 more
2020Neurology27 citations Open access
Semantic Scholar
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
Carina Fischer, S. Trajanoski, Lea Papić, C. Windpassinger +12 more
2011Journal of Neurology24 citations Open access
Semantic Scholar
Mutation Analysis of Nine Chordoma Specimens by Targeted Next-Generation Cancer Panel Sequencing
Carina Fischer, S. Scheipl, Agnes Zopf, N. Niklas +8 more
2015Journal of Cancer16 citations Open access
Semantic Scholar
Molecular evidence for the bi-clonal origin of neuroendocrine tumor derived metastases
B. Rinner, Birgit Gallé, S. Trajanoski, Carina Fischer +7 more
2012BMC Genomics16 citations Open access
Semantic Scholar
Evaluation of mutations in the isocitrate dehydrogenase genes in therapy‐related and secondary acute myeloid leukaemia identifies a patient with clonal evolution to IDH2 R172K homozygosity due to uniparental disomy
Monika M. Pichler, C. Bodner, Carina Fischer, A. Deutsch +6 more
2011British Journal of Haematology14 citations
Semantic Scholar
SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients
Lea Papić, D. Fischer, S. Trajanoski, R. Höftberger +9 more
2011European Journal of Medical Genetics14 citations Open access
Semantic Scholar
Human melanoma brain metastases cell line MUG-Mel1, isolated clones and their detailed characterization
E. Heitzer, A. Groenewoud, Katharina Meditz, B. Lohberger +15 more
2019Scientific Reports11 citations Open access
Semantic Scholar
G.P.17.01 A novel slow-skeletal myosin (MYH7) mutation in a large Austrian family presenting as late onset distal myopathy
M. Auer-Grumbach, E. John, W. Wallefeld, Carina Fischer +2 more
20072 citations
Semantic Scholar
High-Throughput Sequencing of the Major Histocompatibility Complex following Targeted Sequence Capture.
J. Pröll, Carina Fischer, G. Michelitsch, M. Danzer +1 more
2017Methods in molecular biology1 citations
Semantic Scholar
Molecular evidence for the bi-clonal origin of neuroendocrine tumor derived metastases
B. Rinner, Birgit Gallé, S. Trajanoski, Carina Fischer +7 more
2012BMC Genomics1 citations Open access
Semantic Scholar
G.P.5.06 LMNA p.R644C: Pathogenic mutation of low penetrance, disease modifier or polymorphism?
M. Auer-Grumbach, Carina Fischer, N. Duong, A. Huebner +4 more
20070 citations
Semantic Scholar

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