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Back to the family: a renewed approach to rare variant studies.
Genome Med. 2012;4(12):97 - PMID: 23253160 - PMCID: PMC3580437
lobSTR: A short tandem repeat profiler for personal genomes.
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Interactions of subunit CCT3 in the yeast chaperonin CCT/TRiC with Q/N-rich proteins revealed by high-throughput microscopy analysis.
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The histone deacetylase SIRT6 is a tumor suppressor that controls cancer metabolism.
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Profiling short tandem repeats from short reads.
Methods Mol Biol. 2013;1038:113-35 - PMID: 23872972
Identifying personal genomes by surname inference.
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A novel single-cell screening platform reveals proteome plasticity during yeast stress responses.
J Cell Biol. 2013;200(6):839-50 - PMID: 23509072 - PMCID: PMC3601363
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Risk prediction measures for case-cohort and nested case-control designs: an application to cardiovascular disease.
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Combinatorial patterning of chromatin regulators uncovered by genome-wide location analysis in human cells.
Cell. 2011;147(7):1628-39 - PMID: 22196736 - PMCID: PMC3312319
Meta-analysis investigating associations between healthy diet and fasting glucose and insulin levels and modification by loci associated with glucose homeostasis in data from 15 cohorts.
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Higher magnesium intake is associated with lower fasting glucose and insulin, with no evidence of interaction with select genetic loci, in a meta-analysis of 15 CHARGE Consortium Studies.
J Nutr. 2013;143(3):345-53 - PMID: 23343670 - PMCID: PMC3713023
Multilocus genetic risk scores for coronary heart disease prediction.
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Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
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Meta-analysis of gene-level associations for rare variants based on single-variant statistics.
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Discovery and refinement of loci associated with lipid levels.
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Utilizing twins as controls for non-twin case-materials in genome wide association studies.
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Risk prediction measures for case-cohort and nested case-control designs: an application to cardiovascular disease.
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Intellectual disability in children with attention deficit hyperactivity disorder.
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Analysis of survival with modified docetaxel, cisplatin, fluorouracil (mDCF), and bevacizumab (BEV) in patients with metastatic gastroesophageal (GE) adenocarcinoma: Results of a phase II clinical trial.
J Clin Oncol. 2009;27(15_suppl):4512 - PMID: 27962705
Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercross.
Mamm Genome. 2009;20(4):224-35 - PMID: 19306044 - PMCID: PMC2736561
Genome-wide association studies and the problem of relatedness among advanced intercross lines and other highly recombinant populations.
Genetics. 2010;185(3):1033-44 - PMID: 20439773 - PMCID: PMC2907190
Fine mapping of QTL for prepulse inhibition in LG/J and SM/J mice using F(2) and advanced intercross lines.
Genes Brain Behav. 2010;9(7):759-67 - PMID: 20597988 - PMCID: PMC3749925
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Nature. 2012;485(7397):242-5 - PMID: 22495311 - PMCID: PMC3613847
Clinical and cognitive characteristics of children with attention-deficit hyperactivity disorder, with and without copy number variants.
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Shared polygenic contribution between childhood attention-deficit hyperactivity disorder and adult schizophrenia.
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Genetic determinants of mortality. Can findings from genome-wide association studies explain variation in human mortality?
Hum Genet. 2013;132(5):553-61 - PMID: 23354976
High loading of polygenic risk for ADHD in children with comorbid aggression.
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Autistic traits in children with ADHD index clinical and cognitive problems.
Eur Child Adolesc Psychiatry. 2013;23(1):23-34 - PMID: 23616179 - PMCID: PMC3899449
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
Nat Genet. 2013;45(10):1150-9 - PMID: 23974872 - PMCID: PMC3827979
The convergent evolution of blue iris pigmentation in primates took distinct molecular paths.
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Chromatin profiling by directly sequencing small quantities of immunoprecipitated DNA.
Nat Methods. 2009;7(1):47-9 - PMID: 19946276 - PMCID: PMC2862482
Digital transcriptome profiling from attomole-level RNA samples.
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PTMScout, a Web resource for analysis of high throughput post-translational proteomics studies.
Mol Cell Proteomics. 2010;9(11):2558-70 - PMID: 20631208 - PMCID: PMC2984232
Using DNA sequencers as stethoscopes.
Genome Med. 2011;3(11):73 - PMID: 22103962 - PMCID: PMC3308028
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
Nat Genet. 2013;45(8):912-7 - PMID: 23793025 - PMCID: PMC4041123
Genome-wide analysis of immune system genes by expressed sequence Tag profiling.
J Immunol. 2013;190(11):5578-87 - PMID: 23616578 - PMCID: PMC3703829
Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies.
Gastroenterology. 2013;145(2):339-47 - PMID: 23624108 - PMCID: PMC3753067
Weight loss after gastric bypass is associated with a variant at 15q26.1.
Am J Hum Genet. 2013;92(5):827-34 - PMID: 23643386 - PMCID: PMC3644642
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
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Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Blood. 2013;122(4):590-7 - PMID: 23690449 - PMCID: PMC3724194
A "candidate-interactome" aggregate analysis of genome-wide association data in multiple sclerosis.
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Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.
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Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.
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Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
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Germline mutations affecting G?11 in hypoparathyroidism.
N Engl J Med. 2013;368(26):2532-4 - PMID: 23802536 - PMCID: PMC3750735
Fine-scale patterns of population stratification confound rare variant association tests.
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Mutations in eIF4ENIF1 Are Associated With Primary Ovarian Insufficiency.
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