Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1
Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool.
Villafranca-Magdalena B et al.
International Journal of Molecular Sciences, 2022
35682944 (PubMed )
Supplement: ijms-23-06266-s001.zip › Table_S5.xlsx › Hoja1
Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User's Point of View.
Jang W et al.
International Journal of Genomics, 2022
36275637 (PubMed )
Supplement: 5265686.f1.docx
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
Perez-Becerril C et al.
Human Mutation, 2021
Breast cancer in women with neurofibromatosis type 1 (NF1): a comprehensive case series with molecular insights into its aggressive phenotype.
Yap YS et al.
Breast Cancer Research and Treatment, 2018
MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism.
Bandopadhayay P et al.
Nature Genetics, 2016
26829751 (PubMed )
Supplement: NIHMS750014-supplement-3.xlsx › Study_Cohort_for_paper
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