Associated Papers
Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.
Fazio A et al.
Genes, 2025
Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.
Liu L et al.
Medcomm, 2025
41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
40796658 (PubMed )
Supplement: 41431_2025_1916_MOESM1_ESM.xlsx › S1_SNV_Data
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
Sun H et al.
Ebiomedicine, 2025
40347836 (PubMed )
Supplement: mmc4.xlsx › Supplementary_Table_9
Identification of genomic biomarkers of disease progression and survival in primary CNS lymphoma.
Geng H et al.
Blood Advances, 2025
Novel kinase-activating genetic events in non-small cell lung carcinomas.
Preobrazhenskaya EV et al.
Exploration of Targeted Anti-tumor Therapy, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Druggable genomic landscapes of high-grade gliomas.
Ghanem P et al.
Frontiers in Medicine, 2023
38143440 (PubMed )
Supplement: Table_1.xlsx › ST5
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Sánchez-Rivera FJ et al.
Nature Biotechnology, 2022
35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2D
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
Miyamoto S et al.
Journal of Human Genetics, 2021
Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants.
Uehara T et al.
Scientific Reports, 2020
Cyclin-dependent kinases and rare developmental disorders.
Colas P
Orphanet Journal of Rare Diseases, 2020
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E et al.
American Journal of Human Genetics, 2019
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