Associated Papers
A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.
Li X et al.
Molecular Genetics & Genomic Medicine, 2025
Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.
Garg N et al.
Clinical Genetics, 2025
Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome.
Ramadesikan S et al.
Hgg Advances, 2025
OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden.
Bagatelas ED et al.
Frontiers in Human Neuroscience, 2025
Autism spectrum disorder and various mechanisms behind it.
Rajabi P et al.
Pharmacology, Biochemistry, and Behavior, 2024
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.
Blanc A et al.
American Journal of Medical Genetics. Part A, 2024
Subtelomeric microdeletion in chromosome 20p13 associated with short stature.
Liu J et al.
Clinical Case Reports, 2024
Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.
Nan H et al.
Molecular Genetics & Genomic Medicine, 2024
A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient.
Zhuri D et al.
Molecular Syndromology, 2024
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review.
Jafari Khamirani H et al.
Molecular Syndromology, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
Murakami H et al.
Molecular Syndromology, 2022
Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome-Two Sides of the Same Coin?
Ballardin D et al.
Frontiers in Molecular Biosciences, 2022
Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.
Unni P et al.
Frontiers in Molecular Biosciences, 2022
Report of an Asian-Indian patient with Okur-Chung Syndrome and comparison of the clinical phenotype in different ethnic groups.
Ranganath P et al.
Clinical Dysmorphology, 2021
Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity.
Dominguez I et al.
Human Genetics, 2021
Identification of novel CSNK2A1 variants and the genotype-phenotype relationship in patients with Okur-Chung neurodevelopmental syndrome: a case report and systematic literature review.
Wu RH et al.
The Journal of International Medical Research, 2021
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.
Nakashima M et al.
Journal of Human Genetics, 2019
Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation.
Colavito D et al.
Journal of Human Genetics, 2018
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.
Owen CI et al.
American Journal of Medical Genetics. Part A, 2018
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
Chiu ATG et al.
Clinical Genetics, 2018
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Okur V et al.
Human Genetics, 2016
Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome.
Rushing GV et al.
Therapeutic Advances in Rare Disease, 0