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Transcriptome and genome sequencing uncovers functional variation in humans
TLDR
Se sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project—the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences discover extremely widespread genetic variation affecting the regulation of most genes. Expand
The making of the African mtDNA landscape.
TLDR
The results suggest that the southeast Bantu speakers have a composite origin on the maternal line of descent, with approximately 44% of lineages deriving from West Africa, approximately 21% from either West or Central Africa, Approximately 30% from East Africa, and approximately 5% from southern African Khoisan-speaking groups. Expand
Common variants conferring risk of schizophrenia
TLDR
Findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition. Expand
Synaptic, transcriptional, and chromatin genes disrupted in autism
TLDR
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). Expand
Reconstructing Native American Population History
TLDR
It is shown that the initial peopling followed a southward expansion facilitated by the coast, with sequential population splits and little gene flow after divergence, especially in South America. Expand
The African diaspora: mitochondrial DNA and the Atlantic slave trade.
TLDR
The results show that mtDNAs in America and Eurasia can, in many cases, be traced to broad geographical regions within Africa, largely in accordance with historical evidence, and raise the possibility that a greater resolution may be possible in the future. Expand
Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration
TLDR
A genome-wide association scan for age-related macular degeneration (AMD) showed that 329 of 331 individuals with the highest-risk genotypes were cases, and 85% of these had advanced AMD, consistent with the hypothesis that HDL metabolism is associated with AMD pathogenesis. Expand
Supercomplex Assembly Determines Electron Flux in the Mitochondrial Electron Transport Chain
TLDR
By genetic modulation of interactions between complexes I and III andIII and IV, it is shown that these associations define dedicated CoQ and cyt c pools and that SC assembly is dynamic and organizes electron flux to optimize the use of available substrates. Expand
Association analysis identifies 65 new breast cancer risk loci
TLDR
A genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry finds that heritability of Breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2–5-fold enriched relative to the genome- wide average. Expand
A multiplex assay with 52 single nucleotide polymorphisms for human identification
TLDR
A highly sensitive and reproducible SNP‐typing method is established with amplification of all 52 DNA fragments in one PCR reaction followed by detection of the SNPs with two single base extension reactions analysed using CE. Expand
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