The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Genetic basis of human congenital anomalies of the kidney and urinary tract

(2018) Simone Sanna-Cherchi et al.   JOURNAL OF CLINICAL INVESTIGATION

Genomic Disorders and Neurocognitive Impairment in Pediatric CKD

(2017) Miguel Verbitsky et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mortality risk disparities in children receiving chronic renal replacement therapy for the treatment of end-stage renal disease across Europe: an ESPN-ERA/EDTA registry analysis

(2017) Nicholas C Chesnaye et al.   LANCET

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

(2017) Esther Lopez-Rivera et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cell lineage of timed cohorts ofTbx6-expressing cells in wild-type andTbx6mutant embryos

(2017) Daniel Concepcion et al.   Biology Open

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

(2016) Mir Reza Bekheirnia et al.   GENETICS IN MEDICINE

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT

(2016) Nayia Nicolaou et al.   KIDNEY INTERNATIONAL

High-throughput discovery of novel developmental phenotypes

(2016) Mary E. Dickinson et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mechanisms underlying structural variant formation in genomic disorders

(2016) Claudia M. B. Carvalho et al.   NATURE REVIEWS GENETICS

The contribution of branching morphogenesis to kidney development and disease

(2016) Kieran M. Short et al.   Nature Reviews Nephrology

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

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

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

Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature

(2015) Marshall I. B. Fontes et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An illustrated anatomical ontology of the developing mouse lower urogenital tract

(2015) K. M. Georgas et al.   DEVELOPMENT

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

(2015) Katrin Männik et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

Genetic, environmental and epigenetic factors involved in CAKUT

(2015) Nayia Nicolaou et al.   Nature Reviews Nephrology

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

(2015) Nan Wu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat

(2015) Koichiro Abe et al.   PLoS One

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

Congenital anomalies of the kidney and urinary tract: An embryogenetic review

(2014) Augusto Cesar Soares dos Santos Junior et al.   BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS

Phenotypic Expansion of DGKE-Associated Diseases

(2014) R. Westland 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

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

(2013) L. Madariaga et al.   Clinical Journal of the American Society of Nephrology

Clinical Implications of the Solitary Functioning Kidney

(2013) R. Westland et al.   Clinical Journal of the American Society of Nephrology

Genetic architecture of reciprocal CNVs

(2013) Christelle Golzio et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features

(2013) Objoon Trachoo et al.   European Journal of Medical Genetics

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

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

(2013) Duncan B. Sparrow et al.   HUMAN MOLECULAR GENETICS

Mutations in DSTYK and Dominant Urinary Tract Malformations

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

The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1

(2013) Anna Materna-Kiryluk et al.   PEDIATRIC NEPHROLOGY

Risk Factors for Renal Injury in Children With a Solitary Functioning Kidney

(2013) R. Westland et al.   PEDIATRICS

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

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

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome

(2012) Elaine Suk-Ying Goh et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Timing and Outcome of Renal Replacement Therapy in Patients with Congenital Malformations of the Kidney and Urinary Tract

(2012) E. Wuhl et al.   Clinical Journal of the American Society of Nephrology

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

(2012) G. J. Swaminathan et al.   HUMAN MOLECULAR GENETICS

De novo copy number variants are associated with congenital diaphragmatic hernia

(2012) Lan Yu et al.   JOURNAL OF MEDICAL GENETICS

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

(2012) Christelle Golzio et al.   NATURE

Contribution of Rare Copy Number Variants to Isolated Human Malformations

(2012) Clara Serra-Juhé et al.   PLoS One

Renal injury in children with a solitary functioning kidney--the KIMONO study

(2011) R. Westland et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort

(2011) Rosemary Thomas et al.   PEDIATRIC NEPHROLOGY

Epidemiology of chronic kidney disease in children

(2011) Jérôme Harambat et al.   PEDIATRIC NEPHROLOGY

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

(2010) Matthew G. Sampson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

(2010) L. Heidet et al.   Clinical Journal of the American Society of Nephrology

Patterning a Complex Organ: Branching Morphogenesis and Nephron Segmentation in Kidney Development

(2010) Frank Costantini et al.   DEVELOPMENTAL CELL

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization

(2010) Stefanie Weber et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microduplication 22q11.2: A new chromosomal syndrome

(2009) Marie-France Portnoï   European Journal of Medical Genetics

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

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

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

Jacobsen syndrome

(2009) Teresa Mattina et al.   Orphanet Journal of Rare Diseases

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Genetic and developmental basis for urinary tract obstruction

(2008) Feng Chen   PEDIATRIC NEPHROLOGY

Tbx6 Regulates Left/Right Patterning in Mouse Embryos through Effects on Nodal Cilia and Perinodal Signaling

(2008) Anna-Katerina Hadjantonakis et al.   PLoS One