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

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

(2015) Asaf Vivante et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Identification and functional characterization ofde novo FOXP1variants provides novel insights into the etiology of neurodevelopmental disorder

(2015) Elliot Sollis et al.   HUMAN MOLECULAR GENETICS

Genomic imbalances in pediatric patients with chronic kidney disease

(2015) Miguel Verbitsky et al.   JOURNAL OF CLINICAL INVESTIGATION

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

(2015) Bo Yuan et al.   JOURNAL OF CLINICAL INVESTIGATION

Genetic, environmental and epigenetic factors involved in CAKUT

(2015) Nayia Nicolaou et al.   Nature Reviews Nephrology

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

(2015) Ender Karaca et al.   NEURON

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

(2015) Yuchao Jiang et al.   NUCLEIC ACIDS RESEARCH

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

(2015) Claudia Gonzaga-Jauregui et al.   Cell Reports

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

(2014) Kyle Retterer et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mutations in PAX2 Associate with Adult-Onset FSGS

(2014) M. Barua et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

(2014) Daw-Yang Hwang et al.   KIDNEY INTERNATIONAL

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

(2014) Asaf Vivante et al.   PEDIATRIC NEPHROLOGY

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

(2014) Michael F. Wangler et al.   PLoS Genetics

Genetic Abnormalities inFOXP1Are Associated with Congenital Heart Defects

(2013) Sheng-Wei Chang et al.   HUMAN MUTATION

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

(2013) Pawaree Saisawat et al.   KIDNEY INTERNATIONAL

Mutations in DSTYK and Dominant Urinary Tract Malformations

(2013) S. Sanna-Cherchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

(2012) Simone Sanna-Cherchi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Danny Challis et al.   BMC BIOINFORMATICS

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

(2012) Jeroen Knijnenburg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

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

(2012) Augustine Kong et al.   NATURE

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

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

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

(2011) Xiaoming Liu et al.   HUMAN MUTATION

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

(2011) Omer Mansoor et al.   PEDIATRIC NEPHROLOGY

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

(2010) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) William McLaren et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

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

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

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

(2009) Tracy L. Stockley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2009) Simone Sanna-Cherchi et al.   KIDNEY INTERNATIONAL