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Scientific Reports|June 13, 2018
The guanine nucleotide exchange factor Arhgef7/βPix promotes axon formation upstream of TC10Alejandro López Tobón, Megalakshmi Suresh, Jing Jin, et al.
Clinical Epigenetics|March 22, 2023
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autismClaudio Peter D'Incal, Kirsten Esther Van Rossem, Kevin De Man, et al.
Science Advances|December 17, 2019
Dosage analysis of the 7q11.23 Williams region identifies <i>BAZ1B</i> as a major human gene patterning the modern human face and underlying self-domesticationMatteo Zanella, Alessandro Vitriolo, Alejandro Andirko, et al.
Stem Cell Reports|December 19, 2025
High resolution multi-scale profiling of embryonic germ cell-like cell derivation reveals pluripotent state transitions in humansSarah Stucchi, Lessly P Sepulveda-Rincon, Camille Dion, et al.
Biorxiv : the Preprint Server for Biology|February 26, 2024
YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programsMarlene F Pereira, Veronica Finazzi, Ludovico Rizzuti, et al.
Nature Methods|December 9, 2024
Multiplexing cortical brain organoids for the longitudinal dissection of developmental traits at single-cell resolutionNicolò Caporale, Davide Castaldi, Marco Tullio Rigoli, et al.
Molecular Psychiatry|February 22, 2025
YY1 mutations disrupt corticogenesis through a cell type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programsMarlene F Pereira, Veronica Finazzi, Ludovico Rizzuti, et al.
Scientific Reports|June 26, 2024
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patientsClaudio Peter D'Incal, Elisa Cappuyns, Kaoutar Choukri, et al.
The Journal of Clinical Investigation|July 15, 2024
Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitabilityMarija Mihailovich, Pierre-Luc Germain, Reinald Shyti, et al.
American Journal of Human Genetics|April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesSanaa Choufani, William T Gibson, Andrei L Turinsky, et al.
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