Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort

(2015) A. Trautmann et al.   Clinical Journal of the American Society of Nephrology

COL4A3 mutations cause focal segmental glomerulosclerosis

(2015) Jingyuan Xie et al.   Journal of Molecular Cell Biology

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

(2014) Gemma Bullich et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant

(2014) JANE GIBSON et al.   Genetics Research

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

Mutations in the Gene That Encodes the F-Actin Binding Protein Anillin Cause FSGS

(2014) R. A. Gbadegesin et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing

(2014) Elizabeth J. Brown et al.   KIDNEY INTERNATIONAL

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

(2014) Andrew F. Malone et al.   KIDNEY INTERNATIONAL

Exon First Nucleotide Mutations in Splicing: Evaluation of In Silico Prediction Tools

(2014) Lucie Grodecká et al.   PLoS One

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

(2013) C. Fallerini et al.   CLINICAL GENETICS

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

(2013) H. J. McCarthy et al.   Clinical Journal of the American Society of Nephrology

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

(2013) Birgit Sikkema-Raddatz et al.   HUMAN MUTATION

Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy

(2013) J. Savige et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

An Expanding Universe of FSGS Genes and Phenotypes: LMX1B Mutations Cause Familial Autosomal Dominant FSGS Lacking Extrarenal Manifestations

(2013) J. B. Kopp   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis

(2013) Moumita Barua et al.   KIDNEY INTERNATIONAL

Cosegregation of Focal Segmental Glomerulosclerosis in a Family with Familial Partial Lipodystrophy due to a Mutation in LMNA

(2013) Kah Mean Thong et al.   NEPHRON CLINICAL PRACTICE

Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria

(2013) Rajshekhar Chatterjee et al.   PLoS One

A SNP profiling panel for sample tracking in whole-exome sequencing studies

(2013) Reuben J Pengelly et al.   Genome Medicine

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients

(2012) Anja K. Büscher et al.   CLINICAL NEPHROLOGY

Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations

(2012) Johanna Temme et al.   KIDNEY INTERNATIONAL

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis

(2012) Xiao-dan Yao et al.   Orphanet Journal of Rare Diseases

Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome

(2011) S. Santin et al.   Clinical Journal of the American Society of Nephrology

Advances in Alport syndrome diagnosis using next-generation sequencing

(2011) Rosangela Artuso et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

α-Actinin-4 and CLP36 Protein Deficiencies Contribute to Podocyte Defects in Multiple Human Glomerulopathies

(2011) Zhongmin Liu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy

(2011) Oliver Gross et al.   KIDNEY INTERNATIONAL

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations

(2010) G. Chernin et al.   Clinical Journal of the American Society of Nephrology

Maintenance of Glomerular Filtration Barrier Integrity Requires Laminin  5

(2010) S. Goldberg et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

Recurrence of focal segmental glomerulosclerosis in renal allograft: An in-depth review

(2010) Modini Vinai et al.   PEDIATRIC TRANSPLANTATION

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis

(2009) Alkis Pierides et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Disease recurrence in paediatric renal transplantation

(2009) Pierre Cochat et al.   PEDIATRIC NEPHROLOGY

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

(2008) Timothy J. Ley et al.   NATURE