(Q37716314)

English

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

scientific article published on 22 September 2016

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23 March 2020

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene (English)

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23 March 2020

congenital disorder

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Nicolette K Janzen

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Arundhati S Kale

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Genetics in Medicine

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412-420

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https://scigraph.springernature.com/pub.10.1038/gim.2016.131

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Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

1 reference

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23 August 2017

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

1 reference

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23 August 2017

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

1 reference

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23 August 2017

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

1 reference

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23 August 2017

Genomic imbalances in pediatric patients with chronic kidney disease

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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

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23 August 2017

CODEX: a normalization and copy number variation detection method for whole exome sequencing

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23 August 2017

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

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23 August 2017

Molecular findings among patients referred for clinical whole-exome sequencing

1 reference

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23 August 2017

Mutations in PAX2 associate with adult-onset FSGS

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23 August 2017

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

1 reference

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23 August 2017

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

1 reference

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23 August 2017

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

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23 August 2017

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

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23 August 2017

Mutations in DSTYK and dominant urinary tract malformations

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23 August 2017

Copy-number disorders are a common cause of congenital kidney malformations

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23 August 2017

Rate of de novo mutations and the importance of father's age to disease risk

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23 August 2017

Copy number variation detection and genotyping from exome sequence data

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23 August 2017

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

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23 August 2017

Human genome sequencing in health and disease

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23 August 2017

An integrative variant analysis suite for whole exome next-generation sequencing data

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23 August 2017

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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23 August 2017

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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23 August 2017

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

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23 August 2017

Foxp2 and Foxp1 cooperatively regulate lung and esophagus development

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Long-term outcomes of children with end-stage renal disease

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23 August 2017

Phenotypic variability of the cat eye syndrome. Case report and review of the literature

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23 August 2017

Genetic, environmental, and epigenetic factors involved in CAKUT.

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6 September 2017

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

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23 June 2018

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.

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1 September 2018

Genetic abnormalities in FOXP1 are associated with congenital heart defects

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1 September 2018

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

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1 September 2018

Long-term risk of chronic kidney disease in unilateral multicystic dysplastic kidney

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1 September 2018

Renal outcome in patients with congenital anomalies of the kidney and urinary tract.

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1 September 2018

A recurrentEYA1mutation causing alternative RNA splicing in branchio-oto-renal syndrome: Implications for molecular diagnostics and disease mechanism

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21 January 2018

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

1 reference

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12 December 2020

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10.1038/GIM.2016.131

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Europe PubMed Central

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23 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27657687%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

1 reference

Europe PubMed Central

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23 March 2020

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