Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans

Beyond APOL1: Genetic Inroads into Understanding Population Disparities in Diabetic Kidney Disease

(2016) K. Skorecki et al.   Clinical Journal of the American Society of Nephrology

Association Analysis of the Cubilin (CUBN) and Megalin (LRP2) Genes with ESRD in African Americans

(2016) J. Ma et al.   Clinical Journal of the American Society of Nephrology

Sodium–glucose cotransporter-2 inhibition and the potential for renal protection in diabetic nephropathy

(2015) Marko Škrtić et al.   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

WGSA: an annotation pipeline for human genome sequencing studies

(2015) Xiaoming Liu et al.   JOURNAL OF MEDICAL GENETICS

Ensembl 2016

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Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND)

(2015) Sudha K. Iyengar et al.   PLoS Genetics

Familial FSGS

(2014) Martin R. Pollak   ADVANCES IN CHRONIC KIDNEY DISEASE

New Insights Into Molecular Mechanisms of Diabetic Kidney Disease

(2014) Shawn S. Badal et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Genetic and Biological Effects of Sodium-Chloride Cotransporter (SLC12A3) in Diabetic Nephropathy

(2014) Norhashimah Abu Seman et al.   AMERICAN JOURNAL OF NEPHROLOGY

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

(2014) Daniel Quang et al.   BIOINFORMATICS

Coding Variants in Nephrin (NPHS1) and Susceptibility to Nephropathy in African Americans

(2014) J. A. Bonomo et al.   Clinical Journal of the American Society of Nephrology

Oxidative stress induces claudin-2 nitration in experimental type 1 diabetic nephropathy

(2014) Eduardo Molina-Jijón et al.   FREE RADICAL BIOLOGY AND MEDICINE

Shroom3contributes to the maintenance of the glomerular filtration barrier integrity

(2014) Nan Cher Yeo et al.   GENOME RESEARCH

The ras responsive transcription factor RREB1 is a novel candidate gene for type 2 diabetes associated end-stage kidney disease

(2014) J. A. Bonomo et al.   HUMAN MOLECULAR GENETICS

Claudins and the Kidney

(2014) A. S. L. Yu   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

A Human Integrin-α3 Mutation Confers Major Renal Developmental Defects

(2014) Rachel Shukrun et al.   PLoS One

Integrating Diverse Datasets Improves Developmental Enhancer Prediction

(2014) Genevieve D. Erwin et al.   PLoS Computational Biology

CD2AP is associated with end-stage renal disease in patients with type 1 diabetes

(2013) Mervi E. Hyvönen et al.   ACTA DIABETOLOGICA

Efficient computation with a linear mixed model on large-scale data sets with applications to genetic studies

(2013) Matti Pirinen et al.   Annals of Applied Statistics

Investigation of known estimated glomerular filtration rate loci in patients with Type 2 diabetes

(2013) H. A. Deshmukh et al.   DIABETIC MEDICINE

Claudin 1 and nephrin label cellular crescents in diabetic glomerulosclerosis

(2013) Joseph P. Gaut et al.   HUMAN PATHOLOGY

Meta-analysis of gene-level tests for rare variant association

(2013) Dajiang J Liu et al.   NATURE GENETICS

RefSeq: an update on mammalian reference sequences

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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

New Susceptibility Loci Associated with Kidney Disease in Type 1 Diabetes

(2012) Niina Sandholm et al.   PLoS Genetics

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis

(2011) Shreeram Akilesh et al.   JOURNAL OF CLINICAL INVESTIGATION

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

(2011) Stephen Sawcer et al.   NATURE

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

Glomerular basement membrane composition and the filtration barrier

(2011) Jeffrey H. Miner   PEDIATRIC NEPHROLOGY

Differential Effects of MYH9 and APOL1 Risk Variants on FRMD3 Association with Diabetic ESRD in African Americans

(2011) Barry I. Freedman et al.   PLoS Genetics

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

(2010) William McLaren et al.   BIOINFORMATICS

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene

(2010) Shay Tzur et al.   HUMAN GENETICS

A genome-wide association study for diabetic nephropathy genes in African Americans

(2010) Caitrin W. McDonough et al.   KIDNEY INTERNATIONAL

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

Claudin-4 forms paracellular chloride channel in the kidney and requires claudin-8 for tight junction localization

(2010) J. Hou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

(2010) G. Genovese et al.   SCIENCE

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Genome-Wide Association Scan for Diabetic Nephropathy Susceptibility Genes in Type 1 Diabetes

(2009) M. G. Pezzolesi et al.   DIABETES

Regulation of the V-ATPase in kidney epithelial cells: dual role in acid-base homeostasis and vesicle trafficking

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A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

(2009) Bo Eskerod Madsen et al.   PLoS Genetics

A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphisms

(2008) Xiaoyi Gao et al.   GENETIC EPIDEMIOLOGY