Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations

(2017) Ethan S Sen et al.   JOURNAL OF MEDICAL GENETICS

Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome

(2017) Fang Wang et al.   PEDIATRIC NEPHROLOGY

Deriving and understanding the risk of post-transplant recurrence of nephrotic syndrome in the light of current molecular and genetic advances

(2017) Agnieszka Bierzynska et al.   PEDIATRIC NEPHROLOGY

Wilms′ tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome

(2016) Prabha Senguttuvan et al.   INDIAN JOURNAL OF MEDICAL RESEARCH

Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability

(2016) Brendan D. Crawford et al.   PEDIATRIC NEPHROLOGY

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

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

(2015) Izabela Karbassi et al.   HUMAN MUTATION

Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing

(2015) Stefanie Weber et al.   PEDIATRIC NEPHROLOGY

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

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

Initial Steroid Sensitivity in Children with Steroid-Resistant Nephrotic Syndrome Predicts Post-Transplant Recurrence

(2014) W. Y. Ding 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

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

NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome

(2012) Anil Vasudevan et al.   INDIAN PEDIATRICS

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

The advent of personal genome sequencing

(2011) Radoje Drmanac   GENETICS IN MEDICINE

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

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

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

(2011) Saskia F. Heeringa et al.   JOURNAL OF CLINICAL INVESTIGATION

Genotype-Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome

(2010) E. Machuca et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations

(2010) Geneviève Benoit et al.   PEDIATRIC NEPHROLOGY

A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome

(2009) Hua Sun et al.   PATHOLOGY

Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study

(2009) Djalila Mekahli 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