Associated Papers
Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.
Sticchi E et al.
Diagnostics (basel, Switzerland), 2025
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
Analysis of Tumor-Associated AXIN1 Missense Mutations Identifies Variants That Activate β-Catenin Signaling.
Zhang R et al.
Cancer Research, 2024
38359148 (PubMed )
Supplement: can-23-2268_supplementary_table_2_suppst2.pdf
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list
High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.
Palafox M et al.
Nature Communications, 2022
36071033 (PubMed )
Supplement: 41467_2022_32828_MOESM4_ESM.xlsx › Fig_2A_and_Table_S4
Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology.
Valentini V et al.
Frontiers in Oncology, 2022
36686738 (PubMed )
Supplement: Table_3.xlsx › Foglio1
Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.
Farajzadeh Valilou S et al.
Molecular Syndromology, 2020
BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.
Kemper K et al.
Cell Reports, 2016
27320919 (PubMed )
Supplement: mmc2.xlsx › Mutation_matrix
AXIN1 and AXIN2 variants in gastrointestinal cancers.
Mazzoni SM et al.
Cancer Letters, 2014
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