Katharina Mayerhanser

Most-cited papers

1. De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

   T. Brunet, R. Jech, M. Brugger, R. Kovács +30 more

   2021Clinical Genetics105 citations Open access

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2. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

   A. Schmidt, M. Danyel, K. Grundmann, T. Brunet +168 more

   2024Nature Genetics50 citations Open access

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3. Genetic landscape of pediatric acute liver failure of indeterminate origin

   D. Lenz, L. D. Schlieben, Masaru Shimura, Alyssa Bianzano +91 more

   2023Hepatology28 citations Open access

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4. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

   T. Brunet, K. McWalter, Katharina Mayerhanser, Grace M Anbouba +57 more

   2020Genetics in Medicine15 citations Open access

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5. Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses

   M. Krenn, Matias Wagner, G. Zulehner, Rosa Weng +19 more

   2023Journal of Neurology11 citations Open access

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6. De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.

   M. Reijnders, A. Seibt, M. Brugger, Ideke J. C. Lamers +24 more

   2023Genetics in Medicine6 citations Open access

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7. Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago

   Maureen Jacob, M. Brugger, Stephanie Andres, Matias Wagner +9 more

   2023Neuropediatrics4 citations

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8. Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop

   Gunda Schwaninger, S. Heidemann, W. Hofmann, Tamara Maurer +6 more

   2021Medizinische Genetik4 citations Open access

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9. Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

   Maureen Jacob, H. Kölbel, P. Harrer, R. Kopajtich +51 more

   2025Brain : a journal of neurology2 citations Open access

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10. De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder

    Céline Jost, T. Busa, Daniel J. Wegner, M. Shinawi +31 more

    2026European Journal of Human Genetics1 citations Open access

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11. Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

    Maureen Jacob, Susann Badmann, S. Bigoni, M. Iascone +12 more

    2026Clinical Genetics0 citations Open access

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12. Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

    A. Schmidt, M. Danyel, K. Grundmann, T. Brunet +168 more

    2025Nature Genetics0 citations Open access

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13. Author response for "De novo variants in neurodevelopmental disorders—experiences from a tertiary care center"

    T. Brunet, R. Jech, M. Brugger, R. Kovács +30 more

    20210 citations Open access

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14. Author response for "De novo variants in neurodevelopmental disorders—experiences from a tertiary care center"

    T. Brunet, R. Jech, M. Brugger, R. Kovács +30 more

    20210 citations Open access

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