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
Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.
Tam CS et al.
Blood Advances, 2024
38315878 (PubMed )
Supplement: BLOODA_ADV-2023-010906-mmc1.pdf
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11
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
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
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.
França MM et al.
Plos One, 2020
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene.
Bacchelli E et al.
Journal of Clinical Medicine, 2019
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
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
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