Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Authors
Keywords
-
Journal
Nature Communications
Volume 10, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-10-26
DOI
10.1038/s41467-019-12869-0
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now