Associated Papers
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
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS5.ActMutationClusters
Diverse genetic causes of polymicrogyria with epilepsy.
Unknown Author
Epilepsia, 2021
A PIK3R2 Mutation in Familial Temporal Lobe Epilepsy as a Possible Pathogenic Variant.
Wang Y et al.
Frontiers in Genetics, 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
PIK3R2/Pik3r2 Activating Mutations Result in Brain Overgrowth and EEG Changes.
Shi X et al.
Annals of Neurology, 2020
Distribution of disease-causing germline mutations in coiled-coils implies an important role of their N-terminal region.
Kalman ZE et al.
Scientific Reports, 2020
Genomic landscape of platinum resistant and sensitive testicular cancers.
Loveday C et al.
Nature Communications, 2020
32366847 (PubMed )
Supplement: 41467_2020_15768_MOESM7_ESM.xlsx › Supplementary_Data_4
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Dobyns WB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
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
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.
Terrone G et al.
European Journal of Human Genetics : Ejhg, 2016
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