1. Wang, Dong, Wu, Jin. 2023. A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay. In Molecular genetics & genomic medicine, 11, e2227. doi:10.1002/mgg3.2227. https://pubmed.ncbi.nlm.nih.gov/37331002/
2. You, Kwontae, Wang, Lingfei, Chou, Chih-Hung, Graham, Daniel B, Xavier, Ramnik J. . QRICH1 dictates the outcome of ER stress through transcriptional control of proteostasis. In Science (New York, N.Y.), 371, . doi:10.1126/science.abb6896. https://pubmed.ncbi.nlm.nih.gov/33384352/
3. Ververi, A, Splitt, M, Dean, J C S, Brady, A F. 2017. Phenotypic spectrum associated with de novo mutations in QRICH1 gene. In Clinical genetics, 93, 286-292. doi:10.1111/cge.13096. https://pubmed.ncbi.nlm.nih.gov/28692176/
4. Akula, Shyam K, Chen, Allen Y, Neil, Jennifer E, Poduri, Annapurna, Walsh, Christopher A. . Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. In JAMA neurology, 80, 980-988. doi:10.1001/jamaneurol.2023.2363. https://pubmed.ncbi.nlm.nih.gov/37486637/
5. Lui, Julian C, Jee, Youn Hee, Lee, Audrey, Vogt, Karen S, Baron, Jeffrey. 2018. QRICH1 mutations cause a chondrodysplasia with developmental delay. In Clinical genetics, 95, 160-164. doi:10.1111/cge.13457. https://pubmed.ncbi.nlm.nih.gov/30281152/
6. Roddate, Marija, Tauriņa, Gita, Krutovs, Vladimirs, Rots, Dmitrijs, Kēniņa, Viktorija. 2023. Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene. In The American journal of case reports, 24, e939217. doi:10.12659/AJCR.939217. https://pubmed.ncbi.nlm.nih.gov/37211757/
7. Pande, Shruti, Majethia, Purvi, Nair, Karthik, Girisha, Katta Mohan, Shukla, Anju. 2023. De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India. In European journal of human genetics : EJHG, 32, 1291-1298. doi:10.1038/s41431-023-01513-7. https://pubmed.ncbi.nlm.nih.gov/38114583/
8. Wang, Shixin, Ren, Yubo, Duan, Aojie, Wang, Zongqi, Sun, Xiaoou. 2024. Unravelling the impact of QRICH1 modulation on endoplasmic reticulum stress and neuronal apoptosis in traumatic brain injury. In Biochimica et biophysica acta. Molecular basis of disease, 1871, 167621. doi:10.1016/j.bbadis.2024.167621. https://pubmed.ncbi.nlm.nih.gov/39662754/
9. Smal, Noor, Millevert, Charissa, De Wachter, Matthias, Jansen, Anna C, Weckhuysen, Sarah. 2025. Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy. In Epilepsia, , . doi:10.1111/epi.18279. https://pubmed.ncbi.nlm.nih.gov/39878611/
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