Associated Papers
Clinical application of whole-exome sequencing analysis in childhood epilepsy.
Gavaz M et al.
Journal of Neurogenetics, 2024
39654149 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_materials
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.
Khan S et al.
The Journal of Gene Medicine, 2023
Two Novel Compound Heterozygous ADGRG1/GPR56 Mutations Associated with Diffuse Cerebral Polymicrogyria.
Jha R et al.
Journal of Pediatric Genetics, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Novel compound heterozygous GPR56 gene mutation in a twin with lissencephaly: A case report.
Lin WX et al.
World Journal of Clinical Cases, 2022
GPR56: An adhesion GPCR involved in brain development, neurological disorders and cancer.
Ganesh RA et al.
Brain Research, 2020
GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.
Öncü-Öner T et al.
The Turkish Journal of Pediatrics, 2018
Disease-associated extracellular loop mutations in the adhesion G protein-coupled receptor G1 (ADGRG1; GPR56) differentially regulate downstream signaling.
Kishore A et al.
The Journal of Biological Chemistry, 2017
Heparin interacts with the adhesion GPCR GPR56, reduces receptor shedding, and promotes cell adhesion and motility.
Chiang NY et al.
Journal of Cell Science, 2016
Disease-associated mutations prevent GPR56-collagen III interaction.
Luo R et al.
Plos One, 2012
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.
Chiang NY et al.
The Journal of Biological Chemistry, 2011
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.
Parrini E et al.
Epilepsia, 2009
Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.
Jin Z et al.
Human Molecular Genetics, 2007
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Piao X et al.
Annals of Neurology, 2005
G protein-coupled receptor-dependent development of human frontal cortex.
Piao X et al.
Science (new York, N.y.), 2004
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