Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families

Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract

(2020) Rik Westland et al.   Clinical Journal of the American Society of Nephrology

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

CRISPR/Cas9 technology as a potent molecular tool for gene therapy

(2019) Ansar Karimian et al.   JOURNAL OF CELLULAR PHYSIOLOGY

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

Monogenic causes of chronic kidney disease in adults

(2019) Dervla M. Connaughton et al.   KIDNEY INTERNATIONAL

Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system

(2019) Jia Rao et al.   CLINICAL GENETICS

Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants

(2019) Rebecca Hudson et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Consensus opinion on diagnosis and management of thrombotic microangiopathy in Australia and New Zealand

(2018) Lucy C. Fox et al.   INTERNAL MEDICINE JOURNAL

NPHP1(Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD

(2018) Rozemarijn Snoek et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

(2018) Emma J. Ashton et al.   KIDNEY INTERNATIONAL

Diagnostic Utility of Exome Sequencing for Kidney Disease

(2018) Emily E. Groopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

(2017) Erica D. Smith et al.   HUMAN MUTATION

Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play

(2017) Valentina Capone et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Novel EYA1 variants causing Branchio-oto-renal syndrome

(2017) Kyle D. Klingbeil et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract

(2017) Amelie T. van der Ven et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders

(2017) Andrew J. Mallett et al.   KIDNEY INTERNATIONAL

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

(2016) D. A. Braun et al.   Clinical Journal of the American Society of Nephrology

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease

(2016) Amali C Mallawaarachchi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders

(2016) Christian de Goede et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Eculizumab is a safe and effective treatment in pediatric patients with atypical hemolytic uremic syndrome

(2016) Larry A. Greenbaum et al.   KIDNEY INTERNATIONAL

Health care variation: time to act

(2016) Heather A Buchan et al.   MEDICAL JOURNAL OF AUSTRALIA

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

(2016) Monkol Lek et al.   NATURE

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease

(2015) Lena Obeidova et al.   BMC Medical Genetics

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes

(2015) Asli Ece Solmaz et al.   European Journal of Medical 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

Evidence of digenic inheritance in Alport syndrome

(2015) Maria Antonietta Mencarelli et al.   JOURNAL OF MEDICAL GENETICS

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

(2015) Markus Schueler et al.   JOURNAL OF MEDICAL GENETICS

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies

(2015) F. Bu et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Hepatocyte Nuclear Factor 1 -Associated Kidney Disease: More than Renal Cysts and Diabetes

(2015) J. C. Verhave et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

A Novel Atypical Hemolytic Uremic Syndrome-Associated Hybrid CFHR1/CFH Gene Encoding a Fusion Protein That Antagonizes Factor H-Dependent Complement Regulation

(2014) E. Valoti et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing

(2014) V. Moriniere et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

(2014) C. E. Sadowski et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

(2014) Arif B. Ekici et al.   KIDNEY INTERNATIONAL

Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation

(2014) Christer Holmberg et al.   PEDIATRIC NEPHROLOGY

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

(2013) Jan Halbritter et al.   HUMAN GENETICS

Comprehensive Genetic Analysis of Complement and Coagulation Genes in Atypical Hemolytic Uremic Syndrome

(2013) F. Bu et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

(2013) Burcu Bulum et al.   PEDIATRIC NEPHROLOGY

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

(2012) Jan Halbritter et al.   JOURNAL OF MEDICAL GENETICS

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

(2010) E. A. Otto et al.   JOURNAL OF MEDICAL GENETICS

Molecular diagnostics for autosomal dominant polycystic kidney disease

(2010) Peter C. Harris et al.   Nature Reviews Nephrology

Molecular Architecture of the Goodpasture Autoantigen in Anti-GBM Nephritis

(2010) Vadim Pedchenko et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prevalence and risk factors associated with chronic kidney disease in an adult population from southern China

(2008) W. Chen et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Living donor kidney transplantation from relatives with mild urinary abnormalities in Alport syndrome: long-term risk, benefit and outcome

(2008) O. Gross et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION