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Nature Genetics|September 25, 2012
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureGillian I Rice, Paul R Kasher, Gabriella M A Forte, et al.
The Lancet. Neurology|November 5, 2013
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control studyGillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, et al.
HGG Advances|December 26, 2022
Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variantsKristin L Young, Virginia Fisher, Xuan Deng, et al.
Genome Biology|June 26, 2015
Comparison of RNA-seq and microarray-based models for clinical endpoint predictionWenqian Zhang, Ying Yu, Falk Hertwig, et al.
Nature|November 6, 2007
Characterizing the cancer genome in lung adenocarcinomaBarbara A Weir, Michele S Woo, Gad Getz, et al.
Cell Genomics|January 8, 2024
Genome-wide study investigating effector genes and polygenic prediction for kidney function in persons with ancestry from Africa and the AmericasOdessica Hughes, Amy R Bentley, Charles E Breeze, et al.
Nature Methods|October 27, 2022
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studiesZilin Li, Xihao Li, Hufeng Zhou, et al.
Ebiomedicine|January 8, 2021
Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortiumBridget M Lin, Kelsey E Grinde, Jennifer A Brody, et al.
Nature|June 21, 2019
Genetic analyses of diverse populations improves discovery for complex traitsGenevieve L Wojcik, Mariaelisa Graff, Katherine K Nishimura, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.
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