Associated Papers
Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
Rojanaporn D et al.
Translational Vision Science & Technology, 2022
36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › n_1303
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 › RB1
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.
Zou Y et al.
Molecular Vision, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.
Mitchell KA et al.
Nature Communications, 2019
31844068 (PubMed )
Supplement: 41467_2019_13732_MOESM7_ESM.xlsx › Sheet1
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Genetic alterations of triple negative breast cancer by targeted next-generation sequencing and correlation with tumor morphology.
Weisman PS et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2016
26939876 (PubMed )
Supplement: NIHMS752475-supplement-3.xlsx › Supplementary_Table_3
RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients.
Dommering CJ et al.
Journal of Medical Genetics, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.
Balbás-Martínez C et al.
Nature Genetics, 2013
24121791 (PubMed )
Supplement: NIHMS525200-supplement-4.xlsx › Rel._mut_preval._screen__60_5_
Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma.
Parsam VL et al.
Journal of Biosciences, 2011
Evaluation of in silico splice tools for decision-making in molecular diagnosis.
Houdayer C et al.
Human Mutation, 2008
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