Associated Papers
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
Rare Germline Variants in DNA Repair Genes Detected in BRCA-Negative Finnish Patients with Early-Onset Breast Cancer.
Kurkilahti V et al.
Cancers, 2024
Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.
Tam CS et al.
Blood Advances, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.
Yu K et al.
Blood Advances, 2024
Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.
Bedics G et al.
Scientific Reports, 2023
An acquired BMF with FANCL gene heterozygous mutation: Case report.
Zhang N et al.
Medicine, 2023
Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.
Gurioli G et al.
International Journal of Molecular Sciences, 2022
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Sy MR et al.
American Journal of Medical Genetics. Part A, 2022
A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing.
Tuteja S et al.
Journal of Pathology Informatics, 2022
Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.
Tlemsani C et al.
Science Translational Medicine, 2021
Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry.
Chan SH et al.
Jnci Cancer Spectrum, 2021
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.
França MM et al.
Plos One, 2020
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Henn J et al.
Hereditary Cancer in Clinical Practice, 2019
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Castellanos E et al.
Scientific Reports, 2017
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
Lhota F et al.
Clinical Genetics, 2016
Frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.
Pfeifer K et al.
Clinical Genetics, 2016
RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.
Zemankova P et al.
Clinical Genetics, 2016
Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.
Hart SN et al.
Bmj Open, 2016
Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.
Smith AL et al.
Cancer Letters, 2016
Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer.
Nicolas E et al.
Oncotarget, 2015
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
Nicchia E et al.
Molecular Genetics & Genomic Medicine, 2015
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
Vetro A et al.
Human Mutation, 2015
Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.
Kim Y et al.
Blood, 2013
Mutations in Fanconi anemia genes and the risk of esophageal cancer.
Akbari MR et al.
Human Genetics, 2011
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.
Ali AM et al.
Human Mutation, 2009