Associated Papers
A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay.
Wang D et al.
Molecular Genetics & Genomic Medicine, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S et al.
Human Mutation, 2022
A case of Ververi-Brady syndrome due to QRICH1 loss of function and the literature review.
Baruch Y et al.
American Journal of Medical Genetics. Part A, 2021
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.
Föhrenbach M et al.
Clinical Genetics, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
Phenotypic spectrum associated with de novo mutations in QRICH1 gene.
Ververi A et al.
Clinical Genetics, 2018
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