Ann-Kathrin Ruppert

Most-cited papers

1. Analysis of shared heritability in common disorders of the brain

   V. Anttila, B. Bulik-Sullivan, H. Finucane, R. Walters +496 more

   2018Science1,869 citations Open access

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2. Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

   Richard Anney, Andreja Avbersek, D. J. Balding, L. Baum +108 more

   2014Lancet Neurology250 citations Open access

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3. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

   M. Steffens, C. Leu, Ann-Kathrin Ruppert, F. Zara +86 more

   2012Human Molecular Genetics159 citations Open access

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4. CHD2 variants are a risk factor for photosensitivity in epilepsy

   E. Galizia, Candace T. Myers, C. Leu, C. de Kovel +43 more

   2015Brain : a journal of neurology136 citations Open access

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5. Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

   Dennis Lal, Ann-Kathrin Ruppert, H. Trucks, H. Schulz +35 more

   2015PLoS Genetics106 citations Open access

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6. Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus

   H. Schulz, Ann-Kathrin Ruppert, S. Herms, C. Wolf +17 more

   2017Nature Communications78 citations Open access

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7. A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

   K. Hallmann, G. Zsurka, Susanna Moskau-Hartmann, J. Kirschner +11 more

   2014Neurology73 citations

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8. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.

   P. May, S. Girard, Merle Harrer, D. Bobbili +121 more

   2018Lancet Neurology72 citations Open access

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9. Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy

   A. Kudin, Gregory J. Baron, G. Zsurka, K. Hampel +16 more

   2017Free Radical Biology & Medicine39 citations

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10. Genome-wide Association Analysis of Genetic Generalized Epilepsies Implicates Susceptibility Loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 Epicure Consortium

    E. Consortium, M. Steffens, C. Leu, Ann-Kathrin Ruppert +20 more

    19 citations

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11. Alterations in the α2δ ligand, thrombospondin‐1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies

    I. Santolini, R. Celli, M. Cannella, Tiziana Imbriglio +55 more

    2017Epilepsia7 citations Open access

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12. No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

    H. Schulz, Ann-Kathrin Ruppert, F. Zara, F. Madia +27 more

    2019Epilepsia5 citations Open access

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13. Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel KCNQ1 Loss-of-Function Mutation

    H. Prüss, G. Gessner, S. Heinemann, F. Rüschendorf +4 more

    2019Frontiers in Neurology5 citations Open access

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14. CHD2 variants are a risk factor for photosensitivity in epilepsy

    E. Galizia, Candace T. Myers, C. Leu, C. de Kovel +43 more

    20151 citations

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15. Integrative functional genomic search for regulatory DNA sequence polymorphisms influencing DNA methylation and mRNA expression in hippocampal brain tissue

    Ann-Kathrin Ruppert

    20150 citations

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