Associated Papers
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.
Liu X et al.
Bmc Pregnancy and Childbirth, 2021
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.
Yanagi K et al.
Journal of Human Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_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 › _B__Y2H-SI_disease_mut
Dominant-negative Gα subunits are a mechanism of dysregulated heterotrimeric G protein signaling in human disease.
Marivin A et al.
Science Signaling, 2016
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
Romanelli Tavares VL et al.
European Journal of Human Genetics : Ejhg, 2015
Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.
Clouthier DE et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
Gordon CT et al.
Journal of Medical Genetics, 2013
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
Rieder MJ et al.
American Journal of Human Genetics, 2012
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