A. Wernstedt

Most-cited papers

1. The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion

   K. Wimmer, T. Callens, A. Wernstedt, L. Messiaen

   2011PLoS Genetics106 citations Open access

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2. Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

   A. Baas, M. Gabbett, M. Rimac, Minttu Kansikas +13 more

   2012European Journal of Human Genetics49 citations Open access

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3. Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency

   M. Chmara, A. Wernstedt, B. Wasąg, H. Peeters +9 more

   2013Genes, Chromosomes and Cancer48 citations

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4. Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency

   P. Vasovčák, A. Křepelová, M. Menigatti, A. Puchmajerová +7 more

   2012DNA Repair35 citations Open access

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5. Functional PMS2 Hybrid Alleles Containing a Pseudogene-Specific Missense Variant Trace Back to a Single Ancient Intrachromosomal Recombination Event

   C. Ganster, A. Wernstedt, H. Kehrer-Sawatzki, L. Messiaen +6 more

   2010Human Mutation28 citations Open access

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6. Improved Multiplex Ligation-Dependent Probe Amplification Analysis Identifies a Deleterious PMS2 Allele Generated by Recombination with Crossover Between PMS2 and PMS2CL

   A. Wernstedt, E. Valtorta, F. Armelao, R. Togni +8 more

   2012Genes, Chromosomes and Cancer26 citations Open access

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7. Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis

   E. Schamschula, M. Kinzel, A. Wernstedt, Klaus Oberhuber +7 more

   2022Biomolecules24 citations Open access

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8. Human Mutation

   K. Wimmer, E. Schamschula, A. Wernstedt, Pia Traunfellner +6 more

   202022 citations

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9. PMS2 gene mutational analysis: direct cDNA sequencing to circumvent pseudogene interference.

   K. Wimmer, A. Wernstedt

   2014Methods in molecular biology15 citations

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10. SLC26A1 is a major determinant of sulfate homeostasis in humans

    A. Pfau, Karen I. López-Cayuqueo, N. Scherer, M. Wuttke +11 more

    2023Journal of Clinical Investigation13 citations Open access

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11. PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1

    Julia Vogt, A. Wernstedt, T. Ripperger, B. Pabst +3 more

    2016European Journal of Human Genetics9 citations Open access

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12. Gyrate Atrophy in 2 Siblings – Ophthalmological Findings and A New Mutation

    M. Michel, G. Blatsios, S. Scholl-Bürgi, Andreas Entenmann +5 more

    2015Klinische Pädiatrie4 citations

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13. High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing

    L. Pölsler, H. Fiegl, K. Wimmer, W. Oberaigner +11 more

    2015European Journal of Human Genetics3 citations Open access

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14. Brain tumors in constitutional mismatch repair deficiency syndrome: four new families with biallelic pms2 mutations

    K. Wimmer, I. Slavc, Y. Goldberg, M. Chmara +6 more

    20101 citations

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15. NF1 3'splice site mutations outside the canonical AG-dinuclotides: lessons to learn for gDNA-based mutation analysis protocols

    K. Wimmer, A. Wernstedt, T. Callens, L. Messiaen

    20130 citations

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16. Constistutional mismatch repair deficiency syndrome: A childhood cancer syndrome with signs reminiscent of Neurofiromatosis type 1 (NF1)

    K. Wimmer, A. Wernstedt, U. Strasser, Y. Goldberg +5 more

    20100 citations

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