Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
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Title
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
Authors
Keywords
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Journal
Nature Communications
Volume 12, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2021-06-09
DOI
10.1038/s41467-021-23556-4
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Note: Only part of the references are listed.- Evidence for penetrance in patients without a family history of disease: a systematic review
- (2020) Heather Turner et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Transcript expression-aware annotation improves rare variant interpretation
- (2020) Beryl B. Cummings et al. NATURE
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Polygenic risk scores: from research tools to clinical instruments
- (2020) Cathryn M. Lewis et al. Genome Medicine
- Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes
- (2020) Oscar Campuzano et al. EBioMedicine
- Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History
- (2020) Aniruddh P. Patel et al. JAMA Network Open
- Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
- (2020) Akl C. Fahed et al. Nature Communications
- The role of polygenic risk and susceptibility genes in breast cancer over the course of life
- (2020) Nina Mars et al. Nature Communications
- Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
- (2019) Caroline F. Wright et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement
- (2019) Annie Niehaus et al. GENETICS IN MEDICINE
- The Central Role of Glucokinase in Glucose Homeostasis: A Perspective 50 Years After Demonstrating the Presence of the Enzyme in Islets of Langerhans
- (2019) Franz M. Matschinsky et al. Frontiers in Physiology
- Comparative efficacy and safety of lipid-lowering agents in patients with hypercholesterolemia
- (2019) Zonglei Zhao et al. MEDICINE
- Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood
- (2019) Amit V. Khera et al. CELL
- The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
- (2019) GENETICS IN MEDICINE
- Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
- (2019) Jason Flannick et al. NATURE
- 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
- Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine
- (2019) Miriam S Udler et al. ENDOCRINE REVIEWS
- Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
- (2019) M. T. Oetjens et al. Nature Communications
- Ascertainment Bias and Estimating Penetrance
- (2018) Steven Sorscher JAMA Oncology
- Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
- (2018) Ahmad N. Abou Tayoun et al. HUMAN MUTATION
- Estimation of complex effect-size distributions using summary-level statistics from genome-wide association studies across 32 complex traits
- (2018) Yan Zhang et al. NATURE GENETICS
- Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
- (2018) Amit V. Khera et al. NATURE GENETICS
- ISPAD 2018 Consensus Guidelines: The diagnosis and management of monogenic diabetes in children and adolescents
- (2018) Andrew T. Hattersley et al. PEDIATRIC DIABETES
- ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation
- (2018) Edgar A. Rivera-Muñoz et al. HUMAN MUTATION
- Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
- (2018) Steven M. Harrison et al. HUMAN MUTATION
- The UK Biobank resource with deep phenotyping and genomic data
- (2018) Clare Bycroft et al. NATURE
- Sources of discordance among germ-line variant classifications in ClinVar
- (2017) Shan Yang et al. GENETICS IN MEDICINE
- Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia
- (2017) Martine Paquette et al. Journal of Clinical Lipidology
- Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
- (2017) Kashyap A. Patel et al. Nature Communications
- Genetic Architecture of Familial Hypercholesterolaemia
- (2017) Mahtab Sharifi et al. Current Cardiology Reports
- LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis
- (2016) Jie Zheng et al. BIOINFORMATICS
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
- (2016) Sarah S. Kalia et al. GENETICS IN MEDICINE
- Genetic identification of familial hypercholesterolemia within a single U.S. health care system
- (2016) Noura S. Abul-Husn et al. SCIENCE
- Health and population effects of rare gene knockouts in adult humans with related parents
- (2016) V. M. Narasimhan et al. SCIENCE
- Aggregate penetrance of genomic variants for actionable disorders in European and African Americans
- (2016) P. Natarajan et al. Science Translational Medicine
- Algorithms for the Capture and Adjudication of Prevalent and Incident Diabetes in UK Biobank
- (2016) Sophie V Eastwood et al. PLoS One
- Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
- (2015) Bjarni J. Vilhjálmsson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation
- (2015) Ali J. Chakera et al. DIABETES CARE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- The impact of low-frequency and rare variants on lipid levels
- (2015) Ida Surakka et al. NATURE GENETICS
- LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
- (2015) Brendan K Bulik-Sullivan et al. NATURE GENETICS
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age
- (2015) Cathie Sudlow et al. PLOS MEDICINE
- Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
- (2014) Leslie A. Lange et al. AMERICAN JOURNAL OF HUMAN GENETICS
- ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing
- (2014) GENETICS IN MEDICINE
- Searching for missing heritability: Designing rare variant association studies
- (2014) O. Zuk et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
- (2013) Robert C. Green et al. GENETICS IN MEDICINE
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
- (2013) David N. Cooper et al. HUMAN GENETICS
- Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia
- (2013) Kevin Colclough et al. HUMAN MUTATION
- Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
- (2013) Jason Flannick et al. NATURE GENETICS
- Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies
- (2013) Nilanjan Chatterjee et al. NATURE GENETICS
- Use of HbA1c in the Identification of Patients with Hyperglycaemia Caused by a Glucokinase Mutation: Observational Case Control Studies
- (2013) Anna M. Steele et al. PLoS One
- Diagnosis and Management of Familial Dyslipoproteinemias
- (2013) Peter O. Kwiterovich Current Cardiology Reports
- Challenges and opportunities in genome-wide environmental interaction (GWEI) studies
- (2012) Hugues Aschard et al. HUMAN GENETICS
- A robust clustering algorithm for identifying problematic samples in genome-wide association studies
- (2011) Céline Bellenguez et al. BIOINFORMATICS
- Genetic causes of high and low serum HDL-cholesterol
- (2010) Daphna Weissglas-Volkov et al. JOURNAL OF LIPID RESEARCH
- Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
- (2009) Kara K. Osbak et al. HUMAN MUTATION
- Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees
- (2008) F. Stutzmann et al. DIABETES
- PCSK9 function and physiology,: Fig. 1.
- (2008) Andrew S. Peterson et al. JOURNAL OF LIPID RESEARCH
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