articles
- Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. 53:294-303. 2021
- Treating medical data as a durable asset. 52:1005-1010. 2020
- A primer on deep learning in genomics. 51:12-18. 2019
- Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. 50:1327-1334. 2018
- Selective gene dependencies in MYCN-amplified neuroblastoma include the core transcriptional regulatory circuitry. 50:1240-1246. 2018
- Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 50:1067-1071. 2018
- Multiplex assessment of protein variant abundance by massively parallel sequencing. 50:874-882. 2018
- The human noncoding genome defined by genetic diversity. 50:333-337. 2018
- Computational correction of copy number effect improves specificity of CRISPR-Cas9 essentiality screens in cancer cells. 49:1779-1784. 2017
- Genome-wide analyses identify common variants associated with macular telangiectasia type 2. 49:559-567. 2017
- Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites. 49:568-578. 2017
- CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer. 49:170-174. 2017
- In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer. 47:1212-1219. 2015
- NALP3 inflammasome upregulation and CASP1 cleavage of the glucocorticoid receptor cause glucocorticoid resistance in leukemia cells. 47:607-614. 2015
- Cooperative loss of RAS feedback regulation drives myeloid leukemogenesis. 47:539-U150. 2015
- A multiscale statistical mechanical framework integrates biophysical and genomic data to assemble cancer networks. 46:1363-1371. 2014
- Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases. 46:144-151. 2014
- Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. 45:984-994. 2013
- Mutations in GNAL cause primary torsion dystonia. 45:88-92. 2013
- Genome-wide association study identifies five new schizophrenia loci. 43:969-76. 2011
- Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near odz4. 43:977-983. 2011
- Phosphoglycerate dehydrogenase diverts glycolytic flux and contributes to oncogenesis. 43:869-874. 2011
- Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. 43:699-705. 2011
- Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 42:1077-1085. 2010
- Common variants in kcnn3 are associated with lone atrial fibrillation. 42:240-244. 2010
- Infectious diseases not immune to genome-wide association. 42:731-732. 2010
- HLA-C cell surface expression and control of HIV/AIDS correlate with a variant upstream of HLA-C. 41:1290-1294. 2009
- The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line. 41:553-562. 2009
- Narcolepsy is strongly associated with the t-cell receptor alpha locus. 41:708-711. 2009
- Photoreceptors in evolution and disease. 40:1275-1276. 2008
- Atp-sensitive potassium channels mediate survival during infection in mammals and insects. 39:1453-1460. 2007
- The imprinted gene Magel2 regulates normal circadian output. 39:1266-1272. 2007
- Innate partnership of HLA-B and KIR3DL1 subtypes against HIV-1. 39:733-740. 2007
- A high-resolution hla and snp haplotype map for disease association studies in the extended human mhc. 38:1166-1172. 2006
- Normalization procedures and detection of linkage signal in genetical-genomics experiments. Reply. 38:856-859. 2006
- Mapping a plant's chemical vocabulary. 38:737-738. 2006
- The PHYTOCHROME C photoreceptor gene mediates natural variation in flowering and growth responses of Arabidopsis thaliana. 38:711-715. 2006
- Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. 38:556-560. 2006
- Feedback repression is required for mammalian circadian clock function. 38:312-319. 2006
- A variant of the gene encoding leukotriene a4 hydrolase confers ethnicity-specific risk of myocardial infarction. 38:68-74. 2006
- Mutation in Rpa1 results in defective DNA double-strand break repair, chromosomal instability and cancer in mice. 37:750-755. 2005
- Uncovering regulatory pathways that affect hematopoietic stem cell function using 'genetical genomics'. 37:225-232. 2005
- Assessing the impact of population stratification on genetic association studies. 36:388-393. 2004
- Gene expression as a drug discovery tool. 36:214-215. 2004
- The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. 36:233-239. 2004
- Mutations in NR4A2 associated with familial Parkinson disease. 33:85-89. 2003
- Protein microarrays and proteomics. 32:526-532. 2002
- Urocortin-deficient mice show hearing impairment and increased anxiety-like behavior. 31:363-369. 2002
- The extent of linkage disequilibrium in Arabidopsis thaliana. 30:190-193. 2002
- Natural variation in light sensitivity of Arabidopsis. 29:441-446. 2001
- The core meiotic transcriptome in budding yeasts. 26:415-423. 2000
- The insulin gene vntr is associated with fasting insulin levels and development of juvenile obesity. 26:444-446. 2000
- Circadian rhythm genetics: from flies to mice to humans. 26:23-27. 2000
- Mice deficient for corticotropin-releasing hormone receptor-2 display anxiety-like behaviour and are hypersensitive to stress. 24:410-414. 2000
- Stereocilia defects in the sensory hair cells of the inner ear in mice deficient in integrin alpha 8 beta 1. 24:424-428. 2000
- Pharmacogenetic association between alox5 promoter genotype and the response to anti-asthma treatment. 22:168-170. 1999
- Genomic profiling of drug sensitivities via induced haploinsufficiency. 21:278-283. 1999
- A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 18:319-324. 1998
- Mutations in GDI1 are responsible for X-linked non-specific mental retardation. 19:134-139. 1998
- Organization of the Fugu rubripes Hox clusters: evidence for continuing evolution of vertebrate Hox complexes. 16:79-83. 1997
- Lethal alpha-thalassemia created by gene targeting in mice and its genetic rescue. 11:33-39. 1995
- A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. 10:111-113. 1995
- A gene for hirschsprung disease (megacolon) in the pericentromeric region of human chromosome-10. 4:351-356. 1993
- Transgenic mice containing a human heavy-chain immunoglobulin gene fragment cloned in a yeast artificial chromosome. 4:117-123. 1993