9 citations
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May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
1 citations
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March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
23 citations
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December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” This study highlights rapid advances in alopecia areata treatment following the identification of genetic variants associated with increased disease risk, suggesting potential for precision medicine approaches.
3 citations
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April 2025 in “Nature Communications” This study concluded that the GIANT brain atlas, which integrates genetic and neuroanatomical variations, provides a more accurate representation of brain structure than traditional neuroanatomical atlases, allowing for better exploration of genetic influences on the brain.
29 citations
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November 2022 in “Nature Medicine” This study identified thousands of variant-metabolite associations in the human plasma metabolome, offering insights into the genetic bases of metabolism and potential adverse drug effects.