Elisabeth Graf

Munich, BY, Germany

Last Updated: 09/26/2026

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Found 95 publications

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study.

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study.

Journal: Epilepsia open

Published: July 08, 2026

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

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

Journal: Clinical genetics

Published: July 08, 2026

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: April 28, 2026

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

Journal: Human mutation

Published: April 21, 2026

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: December 19, 2025

Fitting in and feeling good: Reciprocal associations between peer acceptance and emotions in the classroom.

Fitting in and feeling good: Reciprocal associations between peer acceptance and emotions in the classroom.

Journal: The British journal of educational psychology

Published: November 21, 2025

Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing.

Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing.

Journal: Neurology

Published: September 26, 2025

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Journal: Annals of neurology

Published: September 24, 2025

AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.

AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.

Journal: Journal of neuromuscular diseases

Published: September 05, 2025

Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.

Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: July 11, 2025

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

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

Journal: Nature genetics

Published: June 24, 2025

Political participation and the Civic Voluntarism Model: How do resources, psychological engagement, and recruitment shape willingness to participate during adolescence?

Political participation and the Civic Voluntarism Model: How do resources, psychological engagement, and recruitment shape willingness to participate during adolescence?

Journal: Journal of experimental psychology. General

Published: June 02, 2025

Showing 1-12 of 95

Last Updated: 09/26/2026