ӳ��ý

Publications

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

O’Grady GL, Ma A, Sival D, et al. Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease. Eur J Hum Genet. 2016;24(8):1216-9. doi:10.1038/ejhg.2015.276

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project.

Kan M, Auer PL, Wang GT, et al. Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project. Eur J Hum Genet. 2016;24(8):1181-7. doi:10.1038/ejhg.2015.272

The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants.

Fadista J, Manning AK, Florez JC, Groop L. The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants. Eur J Hum Genet. 2016;24(8):1202-5. doi:10.1038/ejhg.2015.269

The genomic landscape and evolution of endometrial carcinoma progression and abdominopelvic metastasis.

Gibson WJ, Hoivik EA, Halle MK, et al. The genomic landscape and evolution of endometrial carcinoma progression and abdominopelvic metastasis. Nat Genet. 2016;48(8):848-55. doi:10.1038/ng.3602

Common alleles contribute to schizophrenia in CNV carriers.

Tansey KE, Rees E, Linden DE, et al. Common alleles contribute to schizophrenia in CNV carriers. Mol Psychiatry. 2016;21(8):1085-9. doi:10.1038/mp.2015.143

Association studies of genomic variants with treatment response to risperidone, clozapine, quetiapine and chlorpromazine in the Chinese Han population.

Xu Q, Wu X, Li M, et al. Association studies of genomic variants with treatment response to risperidone, clozapine, quetiapine and chlorpromazine in the Chinese Han population. Pharmacogenomics J. 2016;16(4):357-65. doi:10.1038/tpj.2015.61

Subcellular Changes in Bridging Integrator 1 Protein Expression in the Cerebral Cortex During the Progression of Alzheimer Disease Pathology.

Adams SL, Tilton K, Kozubek JA, Seshadri S, Delalle I. Subcellular Changes in Bridging Integrator 1 Protein Expression in the Cerebral Cortex During the Progression of Alzheimer Disease Pathology. J Neuropathol Exp Neurol. 2016;75(8):779-790. doi:10.1093/jnen/nlw056

DiSCoVERing Innovative Therapies for Rare Tumors: Combining Genetically Accurate Disease Models with In Silico Analysis to Identify Novel Therapeutic Targets.

Hanaford AR, Archer TC, Price A, et al. DiSCoVERing Innovative Therapies for Rare Tumors: Combining Genetically Accurate Disease Models with In Silico Analysis to Identify Novel Therapeutic Targets. Clin Cancer Res. 2016;22(15):3903-14. doi:10.1158/1078-0432.CCR-15-3011

Transforming Big Data into Cancer-Relevant Insight: An Initial, Multi-Tier Approach to Assess Reproducibility and Relevance.

Cancer Target Discovery and Development Network. Transforming Big Data into Cancer-Relevant Insight: An Initial, Multi-Tier Approach to Assess Reproducibility and Relevance. Mol Cancer Res. 2016;14(8):675-82. doi:10.1158/1541-7786.MCR-16-0090

Copper regulates cyclic-AMP-dependent lipolysis.

Krishnamoorthy L, Cotruvo JA, Chan J, et al. Copper regulates cyclic-AMP-dependent lipolysis. Nature chemical biology. 2016;12(8):586-92. doi:10.1038/nchembio.2098