INF2 and ROBO2 gene mutation in an Indian family with end stage renal failure and follow‐up of renal transplantation

INF2 p.Arg214Cys mutation in a Chinese family with rapidly progressive renal failure and follow-up of renal transplantation: case report and literature review

(2021) Wenbo Zhao et al.   BMC Nephrology

The glomerular filtration barrier: a structural target for novel kidney therapies

(2021) Ilse S. Daehn et al.   NATURE REVIEWS DRUG DISCOVERY

The formin INF2 in disease: progress from 10 years of research

(2020) Leticia Labat-de-Hoz et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles

(2020) Samet Bayraktar et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A cryptic splicing mutation in the INF2 gene causing Charcot‐Marie‐Tooth disease with minimal glomerular dysfunction

(2019) Andoni Echaniz‐Laguna et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

INPS-MD: a web server to predict stability of protein variants from sequence and structure: Table 1.

(2016) Castrense Savojardo et al.   BIOINFORMATICS

Diagnosing FSGS without kidney biopsy – a novel INF2-mutation in a family with ESRD of unknown origin

(2016) Johannes Münch et al.   BMC Medical Genetics

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

(2015) Masao Nagasaki et al.   Nature Communications

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy

(2014) G. Caridi et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations

(2014) Jaroslav Bendl et al.   PLoS Computational Biology

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis

(2011) O. Boyer et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis

(2011) Rasheed A. Gbadegesin et al.   KIDNEY INTERNATIONAL

INF2Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

(2011) Olivia Boyer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar

(2010) Anaïs Mottaz et al.   BIOINFORMATICS

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

(2010) William McLaren et al.   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Variable renal phenotype in a family with an INF2 mutation

(2010) Hyun Kyung Lee et al.   PEDIATRIC NEPHROLOGY

Functional annotations improve the predictive score of human disease-related mutations in proteins

(2009) Remo Calabrese et al.   HUMAN MUTATION

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

(2009) Elizabeth J Brown et al.   NATURE GENETICS

ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux

(2008) A. M. Bertoli-Avella et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

McKusick's Online Mendelian Inheritance in Man (OMIM(R))

(2008) J. Amberger et al.   NUCLEIC ACIDS RESEARCH