Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
出版年份 2019 全文链接
标题
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
作者
关键词
-
出版物
Nature Communications
Volume 10, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-10-26
DOI
10.1038/s41467-019-12869-0
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- The illusion of polygenic disease risk prediction
- (2019) Nicholas J. Wald et al. GENETICS IN MEDICINE
- Risk of Premature Atherosclerotic Disease in Patients With Monogenic Versus Polygenic Familial Hypercholesterolemia
- (2019) Mark Trinder et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes
- (2018) Jeffrey Staples et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Patient-Centered Precision Health In A Learning Health Care System: Geisinger’s Genomic Medicine Experience
- (2018) Marc S. Williams et al. HEALTH AFFAIRS
- Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits
- (2018) Luke M. Evans et al. NATURE GENETICS
- The personal and clinical utility of polygenic risk scores
- (2018) Ali Torkamani et al. NATURE REVIEWS GENETICS
- Mosaic Turner syndrome shows reduced penetrance in an adult population study
- (2018) Marcus A. Tuke et al. GENETICS IN MEDICINE
- Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry
- (2018) Loic Yengo et al. HUMAN MOLECULAR GENETICS
- Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
- (2018) Mari E. K. Niemi et al. NATURE
- Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
- (2018) Amit V. Khera et al. NATURE GENETICS
- Deep-coverage whole genome sequences and blood lipids among 16,324 individuals
- (2018) Pradeep Natarajan et al. Nature Communications
- Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability
- (2018) Bryn S. Moore et al. Scientific Reports
- Adding Protective Genetic Variants to Clinical Reporting of Genomic Screening Results
- (2017) Marci L. B. Schwartz et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia
- (2017) Martine Paquette et al. Journal of Clinical Lipidology
- Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers
- (2017) Karoline B Kuchenbaecker et al. JNCI-Journal of the National Cancer Institute
- CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits
- (2017) Aurélien Macé et al. Nature Communications
- Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score
- (2017) Rahul S. Desikan et al. PLOS MEDICINE
- Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers
- (2017) Karoline B Kuchenbaecker et al. JNCI-Journal of the National Cancer Institute
- Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
- (2016) Jan P. Dumanski et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research
- (2016) David J. Carey et al. GENETICS IN MEDICINE
- Reference-based phasing using the Haplotype Reference Consortium panel
- (2016) Po-Ru Loh et al. NATURE GENETICS
- Next-generation genotype imputation service and methods
- (2016) Sayantan Das et al. NATURE GENETICS
- Developing and evaluating polygenic risk prediction models for stratified disease prevention
- (2016) Nilanjan Chatterjee et al. NATURE REVIEWS GENETICS
- Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease
- (2016) Frederick E. Dewey et al. NEW ENGLAND JOURNAL OF MEDICINE
- Genetic identification of familial hypercholesterolemia within a single U.S. health care system
- (2016) Noura S. Abul-Husn et al. SCIENCE
- Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism
- (2016) M. Bonomi et al. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
- Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
- (2015) Bjarni J. Vilhjálmsson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Erratum: Common alleles contribute to schizophrenia in CNV carriers
- (2015) K E Tansey et al. MOLECULAR PSYCHIATRY
- The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions
- (2015) Andres Moreno-De-Luca et al. JAMA Psychiatry
- PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent
- (2014) Jeffrey Staples et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Homozygous familial hypercholesterolemia: The c.1055G>A mutation in the LDLR gene and clinical heterogeneity
- (2014) María Teresa Magaña Torres et al. Journal of Clinical Lipidology
- Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
- (2013) Andres Moreno-De-Luca et al. LANCET NEUROLOGY
- CNVs conferring risk of autism or schizophrenia affect cognition in controls
- (2013) Hreinn Stefansson et al. NATURE
- Discovery and refinement of loci associated with lipid levels
- (2013) Cristen J Willer et al. NATURE GENETICS
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening
- (2012) Maria Loane et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
- (2011) Sébastien Jacquemont et al. NATURE
- A review of trisomy X (47,XXX)
- (2010) Nicole R Tartaglia et al. Orphanet Journal of Rare Diseases
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