Thomas Eggermann

RWTH Aachen University — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

60h-index16.3kcitations487works3.42yr avg
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Research Topics

Genetic Syndromes and Imprinting(243), Prenatal Screening and Diagnostics(162), Epigenetics and DNA Methylation(154), Genomic variations and chromosomal abnormalities(74), RNA modifications and cancer(24)

Publications480 total

EndoCompass Project: Research Roadmap for Growth Disorders
Hormone Research in Paediatrics·2025Open Access
Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver–Russell phenotype
Clinical Epigenetics·2025· 2 citedOpen Access
Congenital Imprinting Diseases: Aetiology, Pre- and Perinatal Manifestations, Diagnosis and Care of Affected Families and Pregnancies
Geburtshilfe und Frauenheilkunde·2025Open Access
EndoCompass project: research roadmap for growth disorders
European Journal of Endocrinology·2025Open Access
Modulating effects of fitness and physical activity on Alzheimer's disease: Implications from a six-month randomized controlled sports intervention
Journal of Alzheimer s Disease·2025· 9 cited
Systematic assessment of COVID-19 host genetics using whole genome sequencing data
PLoS Pathogens·2024· 1 citedOpen Access
CNVizard—a lightweight streamlit application for an interactive analysis of copy number variants
BMC Bioinformatics·2024· 4 citedOpen Access
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study
Clinical Genetics·2024· 1 citedOpen Access
Brain malformations and seizures by impaired chaperonin function of TRiC
Science·2024· 20 citedOpen Access
Author response for "Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study"
2024
Correction to: The effect of the COMT val158met polymorphism on neural correlates of semantic verbal fluency
European Archives of Psychiatry and Clinical Neuroscience·2024Open Access
Author response for "Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study"
2024
Corrigendum to “Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals” [NeuroImage volume 49 (2010) 1831-1836]
NeuroImage·2024Open Access
Automatized detection of uniparental disomies in a large cohort
Human Genetics·2024· 8 citedOpen Access
CNVizard – a lightweight streamlit application for an interactive analysis of copy number variants
2024· 1 citedOpen Access
Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges
Frontiers in Genetics·2024· 5 citedOpen Access
11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?
Molecular Cytogenetics·2024· 2 citedOpen Access
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
npj Genomic Medicine·2024· 2 citedOpen Access
Human Reproduction and Disturbed Genomic Imprinting
Genes·2024· 9 citedOpen Access
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Brain·2023· 25 citedOpen Access
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Frequent Co-authors

Klaus Zerres(16), Deborah Mackay(11), Sabine Rudnik‐Schöneborn(8), Gerhard Binder(8), Matthias Begemann(8), David Monk(7), Eamonn R. Maher(6), I. Karen Temple(6), Andrea Riccio(5), Jan Senderek(5), Miriam Elbracht(5), Agnès Linglart(5), Katja Eggermann(5), Karin Buiting(5), Lukas Soellner(5), Karen Grønskov(4), Irène Netchine(4), Zeynep Tümer(4), Carsten Bergmann(4), Sabrina Spengler(4)