Related references
Note: Only part of the references are listed.Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries
Doris Skoric-Milosavljevic et al.
CIRCULATION RESEARCH (2022)
Heterozygous NOTCH1 deletion associated with variable congenital heart defects
Maian Roifman et al.
CLINICAL GENETICS (2021)
An Improved Genome-Wide Polygenic Score Model for Predicting the Risk of Type 2 Diabetes
Wei Liu et al.
FRONTIERS IN GENETICS (2021)
Toward a fine-scale population health monitoring system
Gillian M. Belbin et al.
CELL (2021)
Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation
Cristina E. Trevino et al.
FERTILITY AND STERILITY (2021)
MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance
Slavena Atemin et al.
NEUROMUSCULAR DISORDERS (2021)
A Survey of Compound Heterozygous Variants in Pediatric Cancers and Structural Birth Defects
Dustin B. Miller et al.
FRONTIERS IN GENETICS (2021)
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Inge M. M. Lakeman et al.
GENETICS IN MEDICINE (2021)
Technological readiness and implementation of genomic-driven precision medicine for complex diseases
P. W. Franks et al.
JOURNAL OF INTERNAL MEDICINE (2021)
Molecular Genetics and Complex Inheritance of Congenital Heart Disease
Nicholas S. Diab et al.
GENES (2021)
Polygenic Scores and Parental Predictors: An Adult Height Study Based on the United Kingdom Biobank and the Framingham Heart Study
Chong You et al.
FRONTIERS IN GENETICS (2021)
Clinical Conditions and Their Impact on Utility of Genetic Scores for Prediction of Acute Coronary Syndrome
Jiwoo Lee et al.
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2021)
Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease
Polakit Teekakirikul et al.
HUMAN GENETICS AND GENOMICS ADVANCES (2021)
Psychiatric Polygenic Risk Scores as Predictor for Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in a Clinical Child and Adolescent Sample
Arija G. Jansen et al.
BEHAVIOR GENETICS (2020)
Polygenic risk scores: from research tools to clinical instruments
Cathryn M. Lewis et al.
GENOME MEDICINE (2020)
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Daniel R. Barnes et al.
GENETICS IN MEDICINE (2020)
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
Iris Kramer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
Exploring and visualizing large-scale genetic associations by using PheWeb
Sarah A. Gagliano Taliun et al.
NATURE GENETICS (2020)
Genomic analyses implicate noncoding de novo variants in congenital heart disease
Felix Richter et al.
NATURE GENETICS (2020)
Tutorial: a guide to performing polygenic risk score analyses
Shing Wan Choi et al.
NATURE PROTOCOLS (2020)
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
Cristina E. Trevino et al.
SCIENTIFIC REPORTS (2020)
Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction
Linda Kachuri et al.
NATURE COMMUNICATIONS (2020)
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Joanna Kennedy et al.
GENETICS IN MEDICINE (2019)
Clinical use of current polygenic risk scores may exacerbate health disparities
Alicia R. Martin et al.
NATURE GENETICS (2019)
Analysis of polygenic risk score usage and performance in diverse human populations
L. Duncan et al.
NATURE COMMUNICATIONS (2019)
PRSice-2: Polygenic Risk Score software for biobank-scale data
Shing Wan Choi et al.
GIGASCIENCE (2019)
Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores
Rafik Tadros et al.
EUROPEAN HEART JOURNAL (2019)
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
W. Scott Watkins et al.
NATURE COMMUNICATIONS (2019)
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Nasim Mavaddat et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
Andrew M. Gross et al.
GENETICS IN MEDICINE (2019)
Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation
Patrick Wu et al.
JMIR MEDICAL INFORMATICS (2019)
Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease
Lisa Bastarache et al.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION (2019)
Software Application Profile: PHESANT: a tool for performing automated phenome scans in UK Biobank
Louise A. C. Millard et al.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY (2018)
Arrhythmias in adult patients with congenital heart disease and pulmonary arterial hypertension
Maria Drakopoulou et al.
HEART (2018)
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
Lisa Bastarache et al.
SCIENCE (2018)
The Nature of Nurture: Using a Virtual-Parent Design to Test Parenting Effects on Children's Educational Attainment in Genotyped Families
Timothy C. Bates et al.
TWIN RESEARCH AND HUMAN GENETICS (2018)
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
Amit V. Khera et al.
NATURE GENETICS (2018)
Self-report data as a tool for subtype identification in genetically-defined Parkinson's Disease
Ashley R. Winslow et al.
SCIENTIFIC REPORTS (2018)
The developmental transcriptome of the human heart
Eleftheria Pervolaraki et al.
SCIENTIFIC REPORTS (2018)
Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits
Malika Kumar Freund et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
Davina J. Hensman Moss et al.
LANCET NEUROLOGY (2017)
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Sheng Chih Jin et al.
NATURE GENETICS (2017)
Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenomewide association studies in the electronic health record
Wei-Qi Wei et al.
PLOS ONE (2017)
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
Alicia R. Martin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Polygenic associations of neurodevelopmental genes in suicide attempt
M. Sokolowski et al.
MOLECULAR PSYCHIATRY (2016)
Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature
Sabrina Gade Ellesoe et al.
CONGENITAL HEART DISEASE (2016)
Disease and Polygenic Architecture: Avoid Trio Design and Appropriately Account for Unscreened Control Subjects for Common Disease
Wouter J. Peyrot et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person
Youna Hu et al.
NATURE COMMUNICATIONS (2016)
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
Caroline F. Wright et al.
LANCET (2015)
A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease
Majid Nikpay et al.
NATURE GENETICS (2015)
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Jason Homsy et al.
SCIENCE (2015)
UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age
Cathie Sudlow et al.
PLOS MEDICINE (2015)
Regulation of Sex Determination in Mice by a Non-coding Genomic Region
Valerie A. Arboleda et al.
GENETICS (2014)
Genetic Variants at 10p11 Confer Risk of Tetralogy of Fallot in Chinese of Nanjing
Jing Xu et al.
PLOS ONE (2014)
Insights into the Genetic Structure of Congenital Heart Disease from Human and Murine Studies on Monogenic Disorders
Terence Prendiville et al.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2014)
Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy
Anne-Karin Arndt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Genetics of Congenital Heart Disease The Glass Half Empty
Akl C. Fahed et al.
CIRCULATION RESEARCH (2013)
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
Heather J. Cordell et al.
NATURE GENETICS (2013)
Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010
Rafael Lozano et al.
LANCET (2012)
The 1000 Genomes Project: data management and community access
Laura Clarke et al.
NATURE METHODS (2012)
A Likelihood-Based Framework for Variant Calling and De Novo Mutation Detection in Families
Bingshan Li et al.
PLOS GENETICS (2012)
Birth Prevalence of Congenital Heart Disease Worldwide A Systematic Review and Meta-Analysis
Denise van der Linde et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2011)
Recurrence of Congenital Heart Defects in Families
Nina Oyen et al.
CIRCULATION (2009)
Susceptibility to Coccidioides species in C57BL/6 mice is associated with expression of a truncated splice variant of Dectin-1 (Clec7a)
M. del Pilar Jimenez-A et al.
GENES AND IMMUNITY (2008)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms
Stephen H. McKellar et al.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY (2007)
Arrhythmias in adult patients with congenital heart disease
Edward P. Walsh et al.
CIRCULATION (2007)
Case/pseudocontrol analysis in genetic association studies: A unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects
HJ Cordell et al.
GENETIC EPIDEMIOLOGY (2004)
Task force 1: The changing profile of congenital heart disease in adult life
CA Warnes et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2001)
Share Paper
