Associated Papers
Characterization of the mutational status of glioblastoma and high-grade astrocytomas in a Latin American cohort.
Fernández-Gajardo R et al.
Scientific Reports, 2025
41044136 (PubMed )
Supplement: 41598_2025_6129_MOESM1_ESM.xlsx › Supp_Table_2
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › PTEN
Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells.
Rouhani FJ et al.
Nature Genetics, 2022
35953586 (PubMed )
Supplement: 41588_2022_1147_MOESM4_ESM.xlsx › Table_S5_hipsci_cancermut_DSNV
Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation.
Pooh RK et al.
Genes, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1
Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.
Palumbo E et al.
Journal of Biomolecular Structure & Dynamics, 2020
31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S4_mutants_nochange.xlsx › Mutants_no_change
PIK3CA mutation is a favorable prognostic factor in esophageal cancer: molecular profile by next-generation sequencing using surgically resected formalin-fixed, paraffin-embedded tissue.
Yokota T et al.
Bmc Cancer, 2018
30115035 (PubMed )
Supplement: 12885_2018_4733_MOESM1_ESM.xlsx › raw_data_of_mutations
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA et al.
Nature Genetics, 2018
29785012 (PubMed )
Supplement: NIHMS956040-supplement-2.doc
PTEN Loss-of-Function Alterations Are Associated With Intrinsic Resistance to BRAF Inhibitors in Metastatic Melanoma.
Catalanotti F et al.
Jco Precision Oncology, 2017
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
Kun-Rodrigues C et al.
Human Molecular Genetics, 2015
The determinants of head and neck cancer: Unmasking the PI3K pathway mutations.
Giudice FS et al.
Journal of Carcinogenesis & Mutagenesis, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC
Cell cycle arrest and apoptosis by expression of a novel TPIP (TPIP-C2) cDNA encoding a C2-domain in HEK-293 cells.
Mishra RR et al.
Molecular Biology Reports, 2012
Mutational analysis of the PTEN gene in gliomas: molecular and pathological correlations.
Zhou XP et al.
International Journal of Cancer, 1999
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