Associated Papers
YY1 mutations disrupt corticogenesis through a cell type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.
Pereira MF et al.
Molecular Psychiatry, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.
Pereira MF et al.
Biorxiv : the Preprint Server for Biology, 2024
Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review.
Yang J et al.
Molecular Genetics & Genomic Medicine, 2024
A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.
Dos Santos SR et al.
Metabolic Brain Disease, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature.
Khamirani HJ et al.
Annals of Human Genetics, 2022
A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.
Tan L et al.
Molecular Genetics & Genomic Medicine, 2021
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Gabriele M et al.
American Journal of Human Genetics, 2017
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