Associated Papers
Spectrum and genotyping strategies of "dark" genetic matter in germline susceptibility genes of tumor syndromes.
Bozsik A et al.
Critical Reviews in Oncology/hematology, 2025
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.
Pérez-Ibave DC et al.
Genes, 2023
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.
Zhi X et al.
Frontiers in Genetics, 2022
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
Montalban G et al.
Cancer Genetics, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
BRCA1/2 mutations and risk-reducing bilateral salpingo-oophorectomy among Latinas: The UPTAKE study.
Lynce F et al.
Journal of Genetic Counseling, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.
Canson D et al.
Human Mutation, 2020
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Mesman RLS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
Lopez-Perolio I et al.
Journal of Medical Genetics, 2019
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer.
Montalban G et al.
Journal of Medical Genetics, 2019
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Kim B et al.
Plos One, 2019
A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
Reeskamp LF et al.
Circulation. Genomic and Precision Medicine, 2018
A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico.
Diaz-Zabala HJ et al.
Cancers, 2018
No Evidence for the Pathogenicity of the BRCA2 c.6937 + 594T>G Deep Intronic Variant: A Case-Control Analysis.
Dutil J et al.
Genetic Testing and Molecular Biomarkers, 2018
Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2.
Ahmadloo S et al.
Journal of Human Genetics, 2017
Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
Byers H et al.
European Journal of Human Genetics : Ejhg, 2016
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Long-range PCR in next-generation sequencing: comparison of six enzymes and evaluation on the MiSeq sequencer.
Jia H et al.
Scientific Reports, 2014
Role of pseudoexons and pseudointrons in human cancer.
Romano M et al.
International Journal of Cell Biology, 2013
BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.
Anczuków O et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012
Hidden dangers: a cryptic exon disrupts BRCA2 mRNA.
Fackenthal JD et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012