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R. Sean Hill

Researcher at Howard Hughes Medical Institute

Publications -  46
Citations -  6484

R. Sean Hill is an academic researcher from Howard Hughes Medical Institute. The author has contributed to research in topics: Gene & Exome sequencing. The author has an hindex of 29, co-authored 41 publications receiving 5581 citations. Previous affiliations of R. Sean Hill include Boston Children's Hospital & Beth Israel Deaconess Medical Center.

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Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis, +99 more
- 13 Nov 2014 - 
TL;DR: Using exome sequencing, it is shown that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate of < 0.05, plus a set of 107 genes strongly enriched for those likely to affect risk (FDR < 0.30).
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Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Timothy W. Yu, +53 more
- 23 Jan 2013 - 
TL;DR: The utility of whole-exome sequencing for identifying specific genetic conditions not clinically suspected and the importance of partial loss of gene function in ASDs are shown.
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Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

Russell J. Ferland, +13 more
- 22 Aug 2004 - 
TL;DR: Comparative genetic analysis of AHI1 indicates that it has undergone positive evolutionary selection along the human lineage, and changes in A HI1 may have been important in the evolution of human-specific motor behaviors.
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Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

Annapurna Poduri, +24 more
- 12 Apr 2012 - 
TL;DR: It is shown that AKT3 is the most abundant AKT paralog in the brain during neurogenesis and that phosphorylated AKT is abundant in cortical progenitor cells.
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Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

Volney L. Sheen, +11 more
- 01 Jan 2004 - 
TL;DR: It is shown that vesicle trafficking is an important regulator of proliferation and migration during human cerebral cortical development and inhibition of BIG2 by BFA or by a dominant negative ARFGEF2 cDNA, decreases cell proliferation in vitro, suggesting a cell-autonomous regulation of neural expansion.