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Frontiers in Genetics|May 29, 2019
Long-Read Sequencing Emerging in Medical GeneticsTuomo Mantere, Simone Kersten, Alexander HoischenEuropean Journal of Human Genetics : EJHG|May 12, 2026
Transcription-based identification of uncharacterized genes in the human immune responseEmil E Vorsteveld, Simone Kersten, Charlotte Kaffa, et al.American Journal of Human Genetics|July 8, 2021
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mappingKornelia Neveling, Tuomo Mantere, Susan Vermeulen, et al.Plos Genetics|August 14, 2023
Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibilityTimo A Kumpula, Sandra Vorimo, Taneli T Mattila, et al.Genes, Chromosomes & Cancer|January 26, 2025
Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome MappingAndriana Valkama, Sandra Vorimo, Anna Tervasmäki, et al.American Journal of Physiology. Renal Physiology|November 18, 2016
Ion transport in the zebrafish kidney from a human disease angle: possibilities, considerations, and future perspectivesSimone Kersten, Francisco J ArjonaHGG Advances|May 22, 2023
A complex structural variant near SOX3 causes X-linked split-hand/foot malformationElke de Boer, Carlo Marcelis, Kornelia Neveling, et al.Cancers|November 25, 2023
Cytogenetics Is a Science, Not a Technique! Why Optical Genome Mapping Is So Important to Clinical Genetic LaboratoriesAdam C Smith, Alexander Hoischen, Gordana RacaNature Neuroscience|May 29, 2014
Prioritization of neurodevelopmental disease genes by discovery of new mutationsAlexander Hoischen, Niklas Krumm, Evan E EichlerHGG Advances|January 20, 2022
Long-read technologies identify a hidden inverted duplication in a family with choroideremiaZeinab Fadaie, Kornelia Neveling, Tuomo Mantere, et al.Pageof 26