Startpage Heidelberg University Hospital
Startpage Heidelberg University Hospital Institute of Human Genetics
Institute of Human Genetics
Institute of Human… Research Research in our… Research in our… Molecular Genetics (AG…
Research in our Diagnostic Laboratories

Molecular Genetics

PD Dr. rer. nat. Katrin Hinderhofer

Fachhumangenetikerin (GfH)
Clinical Laboratory Geneticist (EBMG)


+49 6221 56-39568
+49 6221 56-5091

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In addition to routine diagnostics, the Laboratory of Molecular Genetic Diagnostics is conducting also in several research projects. Methods like next generation sequencing (NGS: multiple-gene panels and whole genome sequencing), Sanger sequencing, microarray comparative genomic hybridization (Array-CGH), microsatellite analysis, fragment analysis and multiplex ligation-dependent amplification (MLPA) are well established in the laboratory and provide the basis for various research cooperations.

Genetic Predisposition to High-Altitude Pulmonary Edema.
C. A. Eichstaedt, H. Mairbäurl, J. Song, N. Benjamin, C. Fischer, C. Dehnert, K. Schommer, M. M. Berger, P. Bärtsch, E. Grünig, et al.
High Alt Med Biol. 2020 Mar;21(1):28-36. doi: 10.1089/ham.2019.0083.

New sequence variants in patients affected by amyloidosis show transthyretin instability by isoelectric focusing.
K. Hinderhofer, C. Obermaier, U. Hegenbart, S. Schönland, M. Seidler, I. Sommer-Ort, U. Barth.
Amyloid. 2019 Jun;26(2):85-93. doi: 10.1080/13506129.2019.1598358.

Critical appraisal of genotype assessment in molybdenum cofactor deficiency.
K. Hinderhofer, K. Mechler, G. F. Hoffmann, A. Lampert, W. K. Mountford, M. Ries.
J Inherit Metab Dis. 2017 Nov;40(6):801-811. doi: 10.1007/s10545-017-0077-8. 

EIF2AK4 mutation as “second hit” in hereditary pulmonary arterial hypertension.
C. A. Eichstaedt, J. Song, N. Benjamin, S. Harutyunova, C. Fischer, E. Grünig, K. Hinderhofer.
Respir Res. 2016 Nov 4;17(1):141. doi: 10.1186/s12931-016-0457-x.

Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool.
J. Song, C. Eichstaedt, R. Viales, N. Benjamin, S. Harutyunova, C. Fischer, E. Grünig, K. Hinderhofer.
Clin Sci (Lond). 2016 Nov 1;130(22):2043-2052. doi: 10.1042/CS20160531. 

Mutation in BMPR2 Promoter: A ‘Second Hit’ for Manifestation of Pulmonary Arterial Hypertension?.
R. R. Viales, C. A. Eichstaedt, N. Ehlken, C. Fischer, M. Lichtblau, E. Grünig, K. Hinderhofer.
PLoS One. 2015 Jul 13;10(7):e0133042. doi: 10.1371/journal.pone.0133042. 

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
C. Evers, N. Paramasivam, K. Hinderhofer, C. Fischer, M. Granzow, A. Schmidt-Bacher, R. Eils, H. Steinbeisser, M. Schlesner, U. Moog.
Eur J Hum Genet. 2015 Dec;23(12):1627-33. doi: 10.1038/ejhg.2015.46. 

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.
M. Granzow, N. Paramasivam, K. Hinderhofer, C. Fischer, S. Chotewutmontri, L. Kaufmann, C. Evers, U. Kotzaeridou, K. Rohrschneider, M. Schlesner, et al.
Mol Cell Probes. 2015 Oct;29(5):323-9. doi: 10.1016/j.mcp.2015.05.012.

Identification of a New Intronic BMPR2-Mutation and Early Diagnosis of Heritable Pulmonary Arterial Hypertension in a Large Family with Mean Clinical Follow-Up of 12 Years.
K. Hinderhofer, C. Fischer, N. Pfarr, J. Szamalek-Hoegel, M. Lichtblau, C. Nagel, B. Egenlauf, N. Ehlken, E. Grünig.
PLoS One. 2014 Mar 12;9(3):e91374. doi: 10.1371/journal.pone.0091374. 

Research in our Diagnostic Laboratories
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