Author

Mandy Krumbiegel

Friedrich-Alexander-Universität Erlangen-Nürnberg

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:variant calling· 3 Assay:whole-exome sequencing· 3 Approach:benchmark study· 1 Research Focus:database / resource· 1 Research Focus:genome assembly· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Bernt PoppiD· 4 shared André ReisiD· 3 shared Arif Bülent EkiciiD· 3 shared Cornelia S. KrausiD· 3 shared Steffen UebeiD· 3 shared Anita M. RauchiD· 2 shared Christian Thomas ThieliD· 2 shared Alistair T. PagnamentaiD· 1 shared

Activity by Year

2018-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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4 shared papersGenetics

Bernt PoppORCID

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4 papers

Recent·Most cited

Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability

Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady, Michael Zech, Siddharth Srivastava, David A. Sweetser, Yasemin Dincer, Volker Mall, Juliane Winkelmann, Christian Behrends, Basil T. Darras, Robert J. Graham, , Darius Ebrahimi‐Fakhari

The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.

Human Mutation · Apr 13, 2021Peer-reviewedGenetic & Genomic Medicine

Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?

Georgia Vasileiou, Juliane Hoyer, Christian Thomas Thiel, Jan Frederik Schaefer, Maren Zapke, Mandy Krumbiegel, Cornelia S. Kraus, Markus Zweier, Steffen Uebe, Arif Bülent Ekici, Michael Oliver Schneider, Michael Sean Wiesener, Anita M. Rauch, Florian Faschingbauer, André Reis, , Bernt Popp

The paper describes prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compares their clinical and genetic data to previous studies, highlighting the need for accurate variant classification.

Prenatal Diagnosis · Sep 9, 2019Peer-reviewedGenetics

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif Bülent Ekici, Cornelia S. Kraus, Mandy Krumbiegel, André Reis, Christian Thomas Thiel, Bernt Popp

The paper identifies and characterizes TUBA1A variants in 166 individuals with tubulinopathy, highlighting common phenotypes and genotype-phenotype associations.

Orphanet Journal of Rare Diseases · Feb 11, 2019Peer-reviewedGenetics

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium

Bernt Popp, Mandy Krumbiegel, Janina Grosch, Annika Sommer, Steffen Uebe, Zacharias Kohl, Sonja Plötz, Michaela Farrell, Udo Trautmann, Cornelia S. Kraus, Arif Bülent Ekici, Reza Asadollahi, Martin Regensburger, Katharina Günther, Anita M. Rauch, , André Reis

The paper analyzes genetic integrity in iPSCs from the ForIPS consortium, identifying somatic variants and highlighting the need for individual clone evaluation.

Scientific Reports · Nov 15, 2018Peer-reviewedGenomics