Stephan Frank - Genetic Mutations

Author Information

Stephan Frank is affiliated with the Division of Neuropathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, CH-4031 Basel, Switzerland. His research is primarily focused on the genetic and molecular profiling of various neurological and oncological conditions.

Research Contributions

Stephan Frank has made significant contributions to the field of neuropathology and genetics. His recent work includes studies on the rapid adaptive nanopore-sequencing of CNS tumors, profiling of myxopapillary ependymomas, and the trans-seeding of Alzheimer-related tau protein by yeast prions. He has also investigated the presence of SARS-CoV-2 transcripts in the choroid plexus of MS and non-MS patients, the distinct methylation and copy-number profiles of glioblastomas, and the neuropathology associated with SARS-CoV-2 infection. His research extends to the molecular mechanisms underlying ocular lesions, liver stress responses, neuroendocrine neoplasms, and mitophagy.

Aliases

S Frank, S. Frank, Stephan Frank

Publication and Citation Metrics

Metric	Value
h-index	45
Citation Count	12671
Paper Count	160

Publications:

Rapid-CNS2: rapid comprehensive adaptive nanopore-sequencing of CNS tumors, a proof-of-concept study

DOI: 10.1007/s00401-022-02415-6

Year: 2022

Comprehensive profiling of myxopapillary ependymomas identifies a distinct molecular subtype with relapsing disease.

DOI: 10.1093/neuonc/noac088

Year: 2022

Trans-seeding of Alzheimer-related tau protein by a yeast prion.

DOI: 10.1002/alz.12581

Year: 2022

Presence of SARS-CoV-2 Transcripts in the Choroid Plexus of MS and Non-MS Patients With COVID-19

DOI: 10.1212/NXI.0000000000000957

Year: 2021

Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1

DOI: 10.1007/s00401-021-02302-6

Year: 2021

Silencing of the ER and Integrative Stress Responses in the Liver of Mice with Error-Prone Translation

DOI: 10.3390/cells10112856

Year: 2021

Co-activation of Sonic hedgehog and Wnt signaling in murine retinal precursor cells drives ocular lesions with features of intraocular medulloepithelioma

DOI: 10.1038/s41389-021-00369-0

Year: 2021

Neuropathology associated with SARS-CoV-2 infection

DOI: 10.1016/S0140-6736(21)00098-2

Year: 2021

Evaluation of MGMT Gene Methylation in Neuroendocrine Neoplasms

DOI: 10.3727/096504021X16214197880808

Year: 2021

VCP/p97 cofactor UBXN1/SAKS1 regulates mitophagy by modulating MFN2 removal from mitochondria

DOI: 10.1080/15548627.2021.1922982

Year: 2021

What are the Technical Challenges?

Is All Evolution Neutral?

Can Genetic Testing Help in Medication Management?

Which Genes Are Affected by Asbestos-Induced Mutations?

Can Insertion Mutations Lead to Diseases?

How Does Autosomal Recessive Inheritance Work?

What are Missense Mutations?

How is Hemophilia Inherited?

Why is Data Analysis Important?

How do Genetic Mutations Affect Health?

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