Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM13_ESM.xlsx › germline_snv_indel
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-12.xlsx › TableS11A-germline_snv_indel
Genotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review.
Munteanu CV et al.
Oncology Reviews, 2025
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
39020067 (PubMed )
Supplement: 41431_2024_1656_MOESM1_ESM.xls › Table_1
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_8
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1
Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.
AlHarbi M et al.
Oncotarget, 2023
Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.
Isidro RA et al.
Frontiers in Oncology, 2023
Prevalence and Genotype-Phenotype Correlation of Lynch Syndrome in a Selected High-Risk Cohort from Qatar's Population.
Sidenna M et al.
Genes, 2022
36421850 (PubMed )
Supplement: genes-13-02176-s001.zip › Table_S1.pdf
A Constitutional Mismatch Repair Deficiency Syndrome Presented With an Advanced Rectal Cancer in a Juvenile Female: A Case Report and Literature Review.
AlAli MN et al.
Cureus, 2022
Actionable genomic variants in 6045 participants from the Qatar Genome Program.
Elfatih A et al.
Human Mutation, 2021
The study of Lynch syndrome in a special population reveals a strong founder effect and an unusual mutational mechanism in familial adenomatous polyposis.
Siraj AK et al.
Gut, 2020
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Scholl SM et al.
Ebiomedicine, 2020
33096476 (PubMed )
Supplement: mmc2.xlsx › RAIDS_algo_filtering_wLOH_forma
Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia.
Alsultan A et al.
Pediatric Blood & Cancer, 2020
Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.
Marks LJ et al.
Frontiers in Pediatrics, 2017
Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.
Oberg JA et al.
Genome Medicine, 2016
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