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RWTH Aachen University
Center for Human Genetics and Genomic Medicine
40 authors · 80 authorships ·
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35
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Thomas Eggermann
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
17.1k
citations
61
h-index
93
Aachen papers
Ingo Kurth
Universitätsklinikum Aachen
·
RWTH Aachen University
Neuroscience
13.9k
citations
53
h-index
106
Aachen papers
Matthias Begemann
Universitätsklinikum Aachen
·
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
4.07k
citations
32
h-index
71
Aachen papers
Miriam Elbracht
Universitätsklinikum Aachen
·
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
3.58k
citations
29
h-index
84
Aachen papers
Jeremias Krause
Universitätsklinikum Aachen
·
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
2.87k
citations
8
h-index
30
Aachen papers
Hans Zempel
University of Cologne
·
University Hospital Cologne
Medicine
2.86k
citations
20
h-index
3
Aachen papers
Katja Eggermann
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
2.39k
citations
28
h-index
33
Aachen papers
Robert Meyer
RWTH Aachen University
Medicine
1.78k
citations
25
h-index
44
Aachen papers
Florian Kraft
Universitätsklinikum Aachen
·
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
1.33k
citations
20
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65
Aachen papers
Sebastian Gießelmann
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
913
citations
9
h-index
11
Aachen papers
Jean Tori Pantel
Universitätsklinikum Aachen
·
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
732
citations
11
h-index
15
Aachen papers
Natja Haag
Universitätsklinikum Aachen
·
RWTH Aachen University
Medicine
687
citations
13
h-index
18
Aachen papers
Tanhim Islam
Universitätsklinikum Aachen
·
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
358
citations
6
h-index
9
Aachen papers
Annette Lischka
Massachusetts General Hospital
·
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
323
citations
10
h-index
17
Aachen papers
Daniela Dey
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
299
citations
6
h-index
13
Aachen papers
Eva Lausberg
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
72
citations
4
h-index
13
Aachen papers
Julia Suh
RWTH Aachen University
Medicine
56
citations
3
h-index
4
Aachen papers
Larissa Mattern
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
55
citations
4
h-index
9
Aachen papers
Nergis Güzel
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
41
citations
3
h-index
7
Aachen papers
Elia Schlaich
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
15
citations
2
h-index
4
Aachen papers
Madeline Gorny
RWTH Aachen University
Pharmacology, Toxicology and Pharmaceutics
3
citations
1
h-index
1
Aachen papers
Martin Danner
Universitätsklinikum Aachen
·
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
2
citations
1
h-index
11
Aachen papers
Sofia D'Augello
Heidelberg University
·
Central Institute of Mental Health
Medicine
1
citations
1
h-index
3
Aachen papers
Zain Ziad
ZB MED - Information Centre for Life Sciences
·
RWTH Aachen University
Computer Science
0
citations
0
h-index
1
Aachen papers
Danique Beijer
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
0
citations
0
h-index
1
Aachen papers
Pauline Wittig
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
0
citations
0
h-index
1
Aachen papers
Radina Karaivanova
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
0
citations
0
h-index
1
Aachen papers
Lena Franken
RWTH Aachen University
Medicine
0
citations
0
h-index
1
Aachen papers
Jarik Ruedebusch
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
0
citations
0
h-index
1
Aachen papers
Robin Mueller
RWTH Aachen University
Biochemistry, Genetics and Molecular Biology
0
citations
0
h-index
1
Aachen papers
1–30 of 35
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Open access
Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort
2025
Blood Advances
article
Medicine
Telomeres, Telomerase, and Senescence
Open access
15
citations
The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients
2026
European Journal of Human Genetics
article
Biochemistry, Genetics and Molecular Biology
Genomics and Rare Diseases
Open access
3
citations
Expanding the Genetic and Phenotypic Spectrum of POLRMT ‐Related Mitochondrial Disease
2025
Clinical Genetics
article
Biochemistry, Genetics and Molecular Biology
Mitochondrial Function and Pathology
Open access
3
citations
Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms
2026
Blood Cancer Journal
article
Medicine
Myeloproliferative Neoplasms: Diagnosis and Treatment
Open access
2
citations
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4
2026
Movement Disorders
article
Neuroscience
Genetic Neurodegenerative Diseases
Open access
1
citations
Bone2Gene: Next-generation Phenotyping of Rare Bone Diseases
2026
medRxiv
preprint
Arts and Humanities
Forensic Anthropology and Bioarchaeology Studies
Open access
1
citations
Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders
2025
Blood Cancer Journal
article
Medicine
Telomeres, Telomerase, and Senescence
Open access
0
citations
Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene
2025
Neurogenetics
article
Medicine
Vascular Malformations Diagnosis and Treatment
Open access
0
citations
Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing
2026
Molecular Medicine
article
Biochemistry, Genetics and Molecular Biology
Genomics and Rare Diseases
Open access
0
citations
The protein kinase DYRK1B is a p53 target gene and functions as a negative feedback regulator of the transcription factor RFX7
2026
Cell Death and Disease
article
Medicine
Down syndrome and intellectual disability research
Open access
0
citations
Genosolver: Rare Disease Diagnosis through Holistic Integration of Unstructured Clinical Narratives Using Large Language and Reasoning Models
2026
medRxiv
preprint
Biochemistry, Genetics and Molecular Biology
Genomics and Rare Diseases
Open access
0
citations
Aberrant DNA methylation is co-regulated across the genome in leukemia and other types of cancer
2026
bioRxiv (Cold Spring Harbor Laboratory)
preprint
Biochemistry, Genetics and Molecular Biology
Epigenetics and DNA Methylation
Open access
0
citations
A computational pipeline for a neurotransmitter-centric analysis of the effects of psychiatric medication on EEG spectral power
2026
Frontiers in Psychiatry
article
Neuroscience
Neural and Behavioral Psychology Studies
Open access
0
citations
A large-scale meta-analysis of DNA methylation signatures of alcohol use disorder in the Psychiatric Genomics Consortium
2026
Nature Mental Health
review
Biochemistry, Genetics and Molecular Biology
Epigenetics and DNA Methylation
Open access
0
citations
JAK2V617F-positive clonal hematopoiesis in germline BRCA1 versus BRCA2 mutation carriers
2026
Leukemia
article
Medicine
Myeloproliferative Neoplasms: Diagnosis and Treatment
Open access
0
citations
Foundation-model-guided radiogenomic discovery linking cancer genomes to cancer scans
2026
arXiv (Cornell University)
preprint
Medicine
Radiomics and Machine Learning in Medical Imaging
Open access
0
citations
Genome-guided isolation and characterization of a novel bacteriophage infecting Escherichia coli reveal a putative new genus
2026
Frontiers in Microbiology
article
Environmental Science
Bacteriophages and microbial interactions
Open access
0
citations
Targeting TTLL1 Alleviates Aβ-Induced Microtubule Disruption and TAU Pathology in Human iPSC-Derived Cortical Neurons
2026
Pharmaceutics
article
Biochemistry, Genetics and Molecular Biology
Microtubule and mitosis dynamics
Open access
0
citations
RTEL1 mutation modifies dyskeratosis congenita caused by a telomerase RNA template mutation
2026
Nature Communications
article
Medicine
Telomeres, Telomerase, and Senescence
Open access
0
citations
Polyclonal sensory neuron derivation from iPSCs as an efficient alternative to single clone strategies for pain-relevant in vitro models
2026
bioRxiv (Cold Spring Harbor Laboratory)
preprint
Biochemistry, Genetics and Molecular Biology
Pluripotent Stem Cells Research
Open access
0
citations
1–20 of 22
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