Author
Icahn School of Medicine at Mount Sinai
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
Jakob Grove, BUPGEN, Stephan Ripke…·Anders Dupont Børglum
This study identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.
F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang…·Kaija Puura
This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.
Mafalda Barbosa, Ricky S. Joshi, Paras Garg…·Andrew J. Sharp
The paper identifies de novo epigenetic variations in congenital disorders and shows their impact on gene expression and potential diagnostic relevance.