Associated Papers
The Spectrum of Movement Disorders in Children with Genetic Developmental and Epileptic Encephalopathies: A Cross-Sectional Observational Study.
Kansal B et al.
Movement Disorders Clinical Practice, 2026
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
41342616 (PubMed )
Supplement: iovs-66-15-19_s002.xlsx › SuppTable1
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
De Nittis P et al.
Journal of Medical Genetics, 2021
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.
Shao Z et al.
Genes, 2021
IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations.
Tang M et al.
Journal of Human Genetics, 2020
Unique retinal signaling defect in GNB5-related disease.
Shao Z et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2020
Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome.
Yazdani S et al.
Molecular Genetics and Metabolism Reports, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf
A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.
Malerba N et al.
Frontiers in Genetics, 2018
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Lodder EM et al.
American Journal of Human Genetics, 2016
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