Optical genome mapping enables constitutional chromosomal aberration detectionTuomo Mantere, Laïla El Khattabi, Wed Majdali et al.|The American Journal of Human Genetics|2021Cited by 254
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mappingKornelia Neveling, Alexander Hoischen, Tuomo Mantere et al.|The American Journal of Human Genetics|2021Cited by 201
Next generation cytogenetics: comprehensive assessment of 48 leukemia genomes by genome imagingKornelia Neveling, Alexander Hoischen, Tuomo Mantere et al.|bioRxiv (Cold Spring Harbor Laboratory)|2020Cited by 27
Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samplesTuomo Mantere, Laïla El Khattabi, Kornelia Neveling et al.|bioRxiv (Cold Spring Harbor Laboratory)|2020Cited by 24
A complex structural variant near SOX3 causes X-linked split-hand/foot malformationElke de Boer, Lisenka E.L.M. Vissers, Carlo Marcelis et al.|Human Genetics and Genomics Advances|2023Cited by 2