Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal density and dispersion
Rune Bøen, Julio E. Villalón‐Reina, Leila Kushan…·Carrie E. Bearden
Author
Stanford MedicineORCID 0000-0002-8520-4939Unclaimed ORCID profile · follow to get notified of new preprints
9 papers
Recent·Most cited
Rune Bøen, Julio E. Villalón‐Reina, Leila Kushan…·Carrie E. Bearden
Omar Shanta, Marieke Klein, Molly Sacks…·Annette M. Hartmann
The paper identifies novel CNV loci and dose-dependent gene effects across six psychiatric disorders using genome-wide analysis.
Siwei Chen, Anna Shcherbina, Simon T. Schafer…·Sundari Chetty
The paper investigates cellular mechanisms of brain overgrowth in autistic children with megalencephaly, finding elevated GPX4 and resistance to ferroptosis in neural progenitor cells.
Louise A. Huuki-Myers, Abby Spangler, Nicholas J. Eagles…·Peng Jin
The paper generates a molecular neuroanatomical map of the human prefrontal cortex using spatial transcriptomics and single nucleus RNA-sequencing, revealing novel spatial domains and cell-cell interactions linked to psychiatric disorders.
Aaron Gordon, Se‐Jin Yoon, Lucy K. Bicks…·Daniel H. Geschwind
The paper uses hiPS cell-derived cortical organoids to study how genetic mutations in ASD converge on shared transcriptional changes during development.
Carolin Purmann, Cheen Euong Ang, Koji Tanabe…·Alexander Eckehart Urban
This paper develops a method to generate neuronal cells from adult fibroblasts and uses it to study gene expression and epigenetic changes in 22q11.2 deletion syndrome.
Siming Zhang, Xianglong Zhang, Carolin Purmann…·Alexander Eckehart Urban
This study examines the transcriptome and epigenome effects of the 15q13.3 microdeletion in human induced neurons, identifying gene expression and pathway changes linked to neuropsychiatric disorders.
Thomas R. Ward, Xianglong Zhang, Louis C. Leung…·Alexander Eckehart Urban
The paper investigates the molecular effects of 16p11.2 CNVs on gene expression and DNA methylation using an iPSC-to-iN model and identifies potential contributing genes.
Hanna Maria Ollila, Eilon Sharon, Ling Lin…·Emmanuel Jean-Marie Mignot
This study identifies genetic risk loci for narcolepsy, showing enrichment in immune cells and suggesting autoimmune modulation via T cell receptor chains and influenza-A infection.