Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux
Authors
Keywords
-
Journal
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Volume -, Issue -, Pages ASN.2020050681
Publisher
American Society of Nephrology (ASN)
Online
2021-02-18
DOI
10.1681/asn.2020050681
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood
- (2019) Amit V. Khera et al. CELL
- COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
- (2019) Thomas M. Kitzler et al. HUMAN GENETICS
- Genetic basis of human congenital anomalies of the kidney and urinary tract
- (2018) Simone Sanna-Cherchi et al. JOURNAL OF CLINICAL INVESTIGATION
- 16p11.2 transcription factorMAZis a dosage-sensitive regulator of genitourinary development
- (2018) Meade Haller et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Development of the human bladder and ureterovesical junction
- (2018) Aron Liaw et al. DIFFERENTIATION
- The copy number variation landscape of congenital anomalies of the kidney and urinary tract
- (2018) Miguel Verbitsky et al. NATURE GENETICS
- Genomic Disorders and Neurocognitive Impairment in Pediatric CKD
- (2017) Miguel Verbitsky et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Genetic Drivers of Kidney Defects in the DiGeorge Syndrome
- (2017) Esther Lopez-Rivera et al. NEW ENGLAND JOURNAL OF MEDICINE
- Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
- (2017) Bo Yang et al. Nature Communications
- Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux
- (2017) John M. Darlow et al. Scientific Reports
- The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants
- (2016) João Fadista et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct Patterning
- (2016) Ilkka Pietilä et al. PLoS One
- Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development
- (2015) Asaf Vivante et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
- (2015) Bjarni J. Vilhjálmsson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- An illustrated anatomical ontology of the developing mouse lower urogenital tract
- (2015) K. M. Georgas et al. DEVELOPMENT
- Genomic imbalances in pediatric patients with chronic kidney disease
- (2015) Miguel Verbitsky et al. JOURNAL OF CLINICAL INVESTIGATION
- Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney
- (2015) Rik Westland et al. KIDNEY INTERNATIONAL
- Partitioning heritability by functional annotation using genome-wide association summary statistics
- (2015) Hilary K Finucane et al. NATURE GENETICS
- Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement
- (2014) Hussam Al-Kateb et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis geneWDPCPin a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas
- (2014) Jonathan Saari et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Influence of serotonergic mechanisms on the urine flow rate in male rats
- (2014) Wen-Jia Fan et al. AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY
- Independent Mutations at Arg181 and Arg274 of Vangl Proteins That Are Associated with Neural Tube Defects in Humans Decrease Protein Stability and Impair Membrane Targeting
- (2014) Alexandra Iliescu et al. BIOCHEMISTRY
- R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment
- (2014) Robert J. Carroll et al. BIOINFORMATICS
- Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data
- (2014) Joseph T. Glessner et al. CIRCULATION RESEARCH
- De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype
- (2014) M. Roifman et al. CLINICAL GENETICS
- Non-canonical Wnt5a/Ror2 signaling regulates kidney morphogenesis by controlling intermediate mesoderm extension
- (2014) Kangsun Yun et al. HUMAN MOLECULAR GENETICS
- Genome-wide association analyses identify variants in developmental genes associated with hypospadias
- (2014) Frank Geller et al. NATURE GENETICS
- Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1
- (2014) Carolina J. Jorgez et al. PLoS One
- ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
- (2013) Sarah T. South et al. GENETICS IN MEDICINE
- Distribution of Disease-Associated Copy Number Variants Across Distinct Disorders of Cognitive Development
- (2013) Matthew F. Pescosolido et al. JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
- TNXB Mutations Can Cause Vesicoureteral Reflux
- (2013) R. A. Gbadegesin et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Mutations in DSTYK and Dominant Urinary Tract Malformations
- (2013) S. Sanna-Cherchi et al. NEW ENGLAND JOURNAL OF MEDICINE
- Lower urinary tract development and disease
- (2013) Hila Milo Rasouly et al. Wiley Interdisciplinary Reviews-Systems Biology and Medicine
- Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton
- (2013) Cheng Cui et al. PLOS BIOLOGY
- A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development
- (2013) J. M. Darlow et al. Molecular Genetics & Genomic Medicine
- Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
- (2012) Simone Sanna-Cherchi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- CKiD (CKD in Children) Prospective Cohort Study: A Review of Current Findings
- (2012) Cynthia J. Wong et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth
- (2012) Uma M. Reddy et al. NEW ENGLAND JOURNAL OF MEDICINE
- Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
- (2012) Ronald J. Wapner et al. NEW ENGLAND JOURNAL OF MEDICINE
- Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients
- (2012) Albertien M. van Eerde et al. PLoS One
- The Next PAGE in Understanding Complex Traits: Design for the Analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study
- (2011) Tara C. Matise et al. AMERICAN JOURNAL OF EPIDEMIOLOGY
- The GUDMAP database - an online resource for genitourinary research
- (2011) S. D. Harding et al. DEVELOPMENT
- American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
- (2011) Hutton M Kearney et al. GENETICS IN MEDICINE
- A copy number variation morbidity map of developmental delay
- (2011) Gregory M Cooper et al. NATURE GENETICS
- Genetics of vesicoureteral reflux
- (2011) Prem Puri et al. Nature Reviews Urology
- LocusZoom: regional visualization of genome-wide association scan results
- (2010) R. J. Pruim et al. BIOINFORMATICS
- Robust relationship inference in genome-wide association studies
- (2010) Ani Manichaikul et al. BIOINFORMATICS
- METAL: fast and efficient meta-analysis of genomewide association scans
- (2010) C. J. Willer et al. BIOINFORMATICS
- Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract
- (2010) Stefania Gimelli et al. HUMAN MUTATION
- Common variants in DGKK are strongly associated with risk of hypospadias
- (2010) Loes F M van der Zanden et al. NATURE GENETICS
- Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis
- (2010) Su Kyoung Kim et al. SCIENCE
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation
- (2009) Audrey Guilmatre et al. ARCHIVES OF GENERAL PSYCHIATRY
- A Recessive Gene for Primary Vesicoureteral Reflux Maps to Chromosome 12p11-q13
- (2009) P. L. Weng et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
- (2009) Steven C Greenway et al. NATURE GENETICS
- Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24
- (2009) S. Ashraf et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Maximizing association statistics over genetic models
- (2008) Juan R. González et al. GENETIC EPIDEMIOLOGY
- Vesicoureteral Reflux
- (2008) G. Williams et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Rationale and Design Issues of the Randomized Intervention for Children With Vesicoureteral Reflux (RIVUR) Study
- (2008) Ron Keren et al. PEDIATRICS
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started