Elisabeth Graf

Klinikum rechts der Isar — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

50h-index11.8kcitations124works3.92yr avg
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Research Topics

Genomics and Rare Diseases(24), Genetics and Neurodevelopmental Disorders(15), Metabolism and Genetic Disorders(12), Mitochondrial Function and Pathology(11), Neurological diseases and metabolism(11)

Publications121 total

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort
2025Open Access
Long-read sequencing disentangles isoform complexity at allele-specific loci
Scientific Reports·2025Open Access
Apremilast improves cardiomyocyte cohesion and arrhythmia in different models for arrhythmogenic cardiomyopathy
Stem Cell Research & Therapy·2025· 1 citedOpen Access
<i>De Novo</i> Variants in <scp> <i>PPFIA2</i> </scp> in Individuals With Neurodevelopmental Disorders
American Journal of Medical Genetics Part A·2025Open Access
Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Movement Disorders·2025Open Access
Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing
Neurology·2025· 1 cited
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders
Journal of Neuromuscular Diseases·2025· 1 citedOpen Access
Deciphering <i>DST</i> -associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
Brain·2025Open Access
Apremilast improves cardiomyocyte cohesion and arrhythmia in different models for arrhythmogenic cardiomyopathy
2025· 1 citedOpen Access
Holistic Exome-Based Genetic Testing in Adults With Epilepsy
Neurology Genetics·2025· 5 citedOpen Access
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
Brain·2025· 13 citedOpen Access
Variants that get straight to your heart – Cardiogenetic secondary findings in exome sequencing
Gene·2024· 1 citedOpen Access
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago
Neuropediatrics·2024· 1 cited
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses
Journal of Neurology·2023· 12 citedOpen Access
Resistance to mesenchymal reprogramming sustains clonal propagation in metastatic breast cancer
Cell Reports·2023· 21 citedOpen Access
Challenges in Establishing the Diagnosis of <scp><i>PRRT2</i></scp>‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch
Movement Disorders Clinical Practice·2023· 1 citedOpen Access
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
Genetics in Medicine·2023· 6 citedOpen Access
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence
Genetics in Medicine·2023· 15 citedOpen Access
TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor?
Parkinsonism & Related Disorders·2023· 6 cited
The constitutional gain‐of‐function variant p. <scp>Glu1099Lys</scp> in <i>NSD2</i> is associated with a novel syndrome
Clinical Genetics·2022· 4 citedOpen Access
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Frequent Co-authors

Tim M. Strom(37), Thomas Meitinger(30), Thomas Wieland(21), Holger Prokisch(19), Tobias B. Haack(16), Thomas Schwarzmayr(13), Johannes A. Mayr(13), Peter Freisinger(10), Laura S. Kremer(8), Riccardo Berutti(8), Georg F. Hoffmann(8), Peter Lichtner(6), Arcangela Iuso(6), Felix Distelmaier(6), Dagmar Wieczorek(5), Maja Hempel(5), Tim M. Strom(5), Daniele Ghezzi(5), Wolfgang Sperl(5), Thomas Klopstock(5)