Associated Papers
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N et al.
Human Mutation, 2022
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
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data
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
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