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Genomic variations and chromosomal abnormalities Sign in to save
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Papers 13
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Genetic variants for head size share genes and pathways with cancer2024 Cell Reports Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Maria J. Knol, Raymond A. Poot, Tavia E. Evans, Claudia Liliana Satizábal, Aniket Mishra, Muralidharan Sargurupremraj, +92 more
10citations -
AUTS2-related syndrome: Insights from a large European cohort2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Lorenzo Loberti, Loredaria Adamo, Giulia Casamassima, Anne Destrèe, Nicola Brunetti‐Pierri, David Geneviève, +66 more
6citations -
Assessment of burden and segregation profiles of CNVs in patients with epilepsy2022 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Claudia Moreau, Frédérique Tremblay, Stefan Wolking, Alexandre Girard, Catherine Laprise, Fadi F. Hamdan, +4 more
6citations -
Correction: High-risk additional chromosomal abnormalities at low blast counts herald death by CML2020 Leukemia erratum Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Rüdiger Hehlmann, Astghik A. Voskanyan, Michael Lauseker, Markus Pfirrmann, Lida Kalmanti, Sebastien Ly Rinaldetti, +79 more
6citations -
CNVizard—a lightweight streamlit application for an interactive analysis of copy number variants2024 BMC Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jeremias Krause, Carlos Classen, Daniela Dey, Eva Lausberg, Luise Kessler, Thomas Eggermann, +3 more
5citations -
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Luise Kessler, Jeremias Krause, Florian Kraft, Asmaa K. Amin, György Fekete, Anna Lengyel, +7 more
3citations -
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans2021 preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Ida Elken Sønderby, Dennis van der Meer, Clara A. Moreau, Tobias Kaufmann, G. Bragi Walters, Maria Ellegaard, +89 more
1citations -
Assessment of burden and segregation profiles of CNVs in patients with epilepsy2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Claudia Moreau, Frédérique Tremblay, Stefan Wolking, Alexandre Girard, Catherine Laprise, Fadi F. Hamdan, +4 more
0citations -
C1_0_52030_45nt-oligos_27k.(fasta/bed) – FASTA/BED format file with all selected and validated oligo probes targeting chromosome C1.2026 Zenodo (CERN European Organization for Nuclear Research) article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Mariana Alejandra Baez, Ludwig Mann, Daniela Quezada-Martinez, Vinita Ramtekey, Tony Heitkam, Annaliese S. Mason
0citations -
C1_0_52030_45nt-oligos_27k.(fasta/bed) – FASTA/BED format file with all selected and validated oligo probes targeting chromosome C1.2026 Zenodo (CERN European Organization for Nuclear Research) article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Mariana Alejandra Baez, Ludwig Mann, Daniela Quezada-Martinez, Vinita Ramtekey, Tony Heitkam, Annaliese S. Mason
0citations
13 results
Most active Aachen authors
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Thomas Eggermann 17,116 citations overall2 papers
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Ingo Kurth 13,878 citations overall2 papers
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Jeremias Krause 2,868 citations overall2 papers
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Florian Kraft 1,331 citations overall2 papers
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Tony Heitkam 996 citations overall2 papers
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Juliane Carow 94 citations overall2 papers
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Eva Lausberg 72 citations overall2 papers
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Luise Kessler 9 citations overall2 papers
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T Rühl 1 citations overall2 papers
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Tim H. Brümmendorf 16,145 citations overall1 paper