Associated Papers
Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.
Llinares-Burguet I et al.
The Journal of Pathology, 2026
41230741 (PubMed )
Supplement: PATH-268-150-s001.zip › path6497-sup-0003-TableS2.docx
Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants.
Llinares-Burguet I et al.
International Journal of Molecular Sciences, 2026
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
41167083 (PubMed )
Supplement: mmc5.xlsx › Table_S12B
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM4_ESM.xlsx › S_Table_1
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Lu HM et al.
Jama Oncology, 2019
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.
Hansen MF et al.
Clinical Genetics, 2017
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
Balci TB et al.
Clinical Genetics, 2017
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