Associated Papers
Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.
Huang CY et al.
Bmc Cancer, 2025
41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S10-Mono-allelic_variants_in_probands_considered_not_solved.xlsx › Sheet1
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases
Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.
Mota A et al.
Oncogene, 2022
35145232 (PubMed )
Supplement: 41388_2022_2221_MOESM3_ESM.xlsx › EEC-5
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
Tracewska AM et al.
Molecular Vision, 2021
Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.
Cehajic-Kapetanovic J et al.
Jama Network Open, 2019
31199449 (PubMed )
Supplement: jamanetwopen-2-e195752-s001.pdf
Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations.
Khan AO et al.
Ophthalmic Genetics, 2015
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