The paper identifies a NOTCH3 variant, p.Arg1231Cys, enriched in South Asians and strongly associated with stroke risk, highlighting the importance of genetic diversity in stroke research.

2 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintOct 27, 2022

Rare coding variants in CHRNB2 reduce the likelihood of smoking

Veera Manikandan Rajagopal, Kyoko Watanabe, Joelle S. Mbatchou…·Giovanni Coppola

The paper identifies rare coding variants in CHRNB2 associated with reduced smoking likelihood and links them to downstream smoking-related phenotypes.

3 citations

humanGWAS summary statistics

𝕏 PostBluesky

NeurosciencebioRxivPreprintDec 17, 2020

Broad transcriptomic dysregulation across the cerebral cortex in ASD

Jillian R. Haney, Brie Wamsley, George T Chen…·Daniel H. Geschwind

The paper identifies widespread transcriptomic dysregulation across multiple cortical regions in ASD, showing regional variation and genetic enrichment in synaptic and protein folding genes.

21 citations

humanbulk RNA-seq

𝕏 PostBluesky

GenomicsHuman Molecular GeneticsPeer-reviewedMar 7, 2019

Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic forms of autism in postmortem human brain tissue.

Chloe C. Y. Wong, Rebecca G. Smith, Eilis J. Hannon…·Jonathan S. Mill

98 citationstop 2%

humanDNA methylation

𝕏 PostBluesky

GenomicsProceedings of the National Academy of SciencesPeer-reviewedJun 26, 2018

Sex Chromosome Dosage Effects On Gene Expression In Humans

Armin Raznahan, Neelroop Parikshak, V. Ravi Chandran…·Daniel H. Geschwind

The paper investigates how sex chromosome dosage affects gene expression in humans by analyzing diverse aneuploidies and identifies SCD-sensitive genes and their regulatory networks.

180 citationstop 1%

humanbulk RNA-seq

𝕏 PostBluesky