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HGG Advances|January 20, 2022
Long-read technologies identify a hidden inverted duplication in a family with choroideremiaZeinab Fadaie, Kornelia Neveling, Tuomo Mantere, et al.
American Journal of Hematology|January 2, 2024
A framework for the clinical implementation of optical genome mapping in hematologic malignanciesBrynn Levy, Rashmi Kanagal-Shamanna, Nikhil S Sahajpal, et al.
Human Genetics|August 19, 2021
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variantJeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, et al.
Cancers|July 27, 2022
Optical Genome Mapping: A Promising New Tool to Assess Genomic Complexity in Chronic Lymphocytic Leukemia (CLL)Anna Puiggros, Silvia Ramos-Campoy, Joanna Kamaso, et al.
The Journal of Pathology|July 7, 2021
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumorsMariangela Sabatella, Tuomo Mantere, Esmé Waanders, et al.
Scientific Reports|April 8, 2017
Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibilityTuomo Mantere, Anna Tervasmäki, Anna Nurmi, et al.
American Journal of Human Genetics|March 15, 2022
Familial long-read sequencing increases yield of de novo mutationsMichelle D Noyes, William T Harvey, David Porubsky, et al.
British Journal of Cancer|December 11, 2025
Urothelium marker UPK2 identifies aggressive colorectal cancers with distinct molecular and histological featuresVille K Äijälä, Jouni Härkönen, Päivi Sirniö, et al.
American Journal of Human Genetics|July 8, 2021
Optical genome mapping enables constitutional chromosomal aberration detectionTuomo Mantere, Kornelia Neveling, Céline Pebrel-Richard, et al.
The Journal of Pathology|February 7, 2025
Comprehensive characterization of micropapillary colorectal adenocarcinomaVille K Äijälä, Jouni Härkönen, Tuomo Mantere, et al.
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