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
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Stanford MedicineORCID 0000-0001-6583-4995Unclaimed ORCID profile · follow to get notified of new preprints
5 papers
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Rune Bøen, Julio E. Villalón‐Reina, Leila Kushan…·Carrie E. Bearden
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.
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.
Victoria Nicole Parikh, Alexander G. Ioannidis, David Jimenez‐Morales…·Euan Angus Ashley
The paper integrates multi-omic data to identify genetic and microbiome factors associated with severe COVID-19, independent of ancestry and social factors.
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.