Exploring the genetic basis of early-onset chronic kidney disease

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

(2015) Asaf Vivante et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome

(2015) Lwaki Ebarasi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

(2015) Noriko Miyake et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations ofWDR73

(2015) Robert N. Jinks et al.   BRAIN

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

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

Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

(2015) Daw-Yang Hwang et al.   HUMAN GENETICS

WDR73Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

(2015) Julia Vodopiutz et al.   HUMAN MUTATION

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

(2015) Heon Yung Gee et al.   JOURNAL OF CLINICAL INVESTIGATION

Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

(2015) Claire E. Wainwright et al.   NEW ENGLAND JOURNAL OF MEDICINE

APOL1 Kidney Disease Risk Variants: An Evolving Landscape

(2015) Patrick D. Dummer et al.   SEMINARS IN NEPHROLOGY

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

(2014) Heon Yung Gee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

(2014) Estelle Colin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

(2014) Camille Humbert et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KDOQI US Commentary on the 2012 KDIGO Clinical Practice Guideline for the Evaluation and Management of CKD

(2014) Lesley A. Inker et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome

(2014) S. Lovric et al.   Clinical Journal of the American Society of Nephrology

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

(2014) Pietro Palumbo et al.   GENE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The Search for Monogenic Causes of Kidney Stones

(2014) D. S. Goldfarb   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

(2014) J. Halbritter et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mild Recessive Mutations in Six Fraser Syndrome-Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

(2014) S. Kohl 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

Heterogeneous Genetic Alterations in Sporadic Nephrotic Syndrome Associate with Resistance to Immunosuppression

(2014) S. Giglio 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

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

Medical Management of Kidney Stones: AUA Guideline

(2014) Margaret S. Pearle et al.   JOURNAL OF UROLOGY

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

(2014) Daw-Yang Hwang et al.   KIDNEY INTERNATIONAL

Rare inherited kidney diseases: challenges, opportunities, and perspectives

(2014) Olivier Devuyst et al.   LANCET

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

(2014) Kálmán Tory et al.   NATURE GENETICS

Syndromes of Thrombotic Microangiopathy

(2014) James N. George et al.   NEW ENGLAND JOURNAL OF MEDICINE

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

(2014) Asaf Vivante et al.   PEDIATRIC NEPHROLOGY

LRIG2 Mutations Cause Urofacial Syndrome

(2013) Helen M. Stuart et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Next-Generation Sequencing Revolution and Its Impact on Genomics

(2013) Daniel C. Koboldt et al.   CELL

WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

(2013) R G Coussa et al.   CLINICAL GENETICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Technical report: ethical and policy issues in genetic testing and screening of children

(2013) Laine Friedman Ross et al.   GENETICS IN MEDICINE

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

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

(2013) Heon Yung Gee et al.   JOURNAL OF CLINICAL INVESTIGATION

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

(2013) Shazia Ashraf et al.   JOURNAL OF CLINICAL INVESTIGATION

TheHNF4AR76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

(2013) Alexander J Hamilton et al.   JOURNAL OF MEDICAL GENETICS

Renal Hypodysplasia Associates with a Wnt4 Variant that Causes Aberrant Canonical Wnt Signaling

(2013) A. Vivante et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

TNXB Mutations Can Cause Vesicoureteral Reflux

(2013) R. A. Gbadegesin et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

(2013) Beata S. Lipska et al.   KIDNEY INTERNATIONAL

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

(2013) Heon Yung Gee et al.   KIDNEY INTERNATIONAL

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

(2013) Pawaree Saisawat et al.   KIDNEY INTERNATIONAL

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

(2013) Mathieu Lemaire et al.   NATURE GENETICS

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

(2013) Sylvia Hoff et al.   NATURE GENETICS

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

(2013) Andrew Kirby et al.   NATURE GENETICS

Molecular genetics of familial hematuric diseases

(2013) C. Deltas et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations

(2013) Graciana Jaureguiberry et al.   NEPHRON PHYSIOLOGY

Mutations in DSTYK and Dominant Urinary Tract Malformations

(2013) S. Sanna-Cherchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Primary coenzyme Q10 (CoQ10) deficiencies and related nephropathies

(2013) Fatih Ozaltin   PEDIATRIC NEPHROLOGY

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

(2012) Simone Sanna-Cherchi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Secondary Focal and Segmental Glomerulosclerosis Associated With Single-Nucleotide Polymorphisms in the Genes Encoding Complement Factor H and C3

(2012) Sanjeev Sethi et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

(2012) Moumita Chaki et al.   CELL

FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man

(2012) Hila Barak et al.   DEVELOPMENTAL CELL

Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene

(2012) Dineke Westra et al.   JOURNAL OF HUMAN GENETICS

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

DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN

(2012) F. Ozaltin et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Integrin α3Mutations with Kidney, Lung, and Skin Disease

(2012) Cristina Has et al.   NEW ENGLAND JOURNAL OF MEDICINE

Membranoproliferative Glomerulonephritis — A New Look at an Old Entity

(2012) Sanjeev Sethi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

(2011) Stefanie Weber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

(2011) Fatih Ozaltin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees

(2011) Y. Athanasiou et al.   Clinical Journal of the American Society of Nephrology

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

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

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

APOL1 Genetic Variants in Focal Segmental Glomerulosclerosis and HIV-Associated Nephropathy

(2011) J. B. Kopp et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Population-Based Risk Assessment of APOL1 on Renal Disease

(2011) D. J. Friedman et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Exome Sequencing Reveals Cubilin Mutation as a Single-Gene Cause of Proteinuria

(2011) B. Ovunc et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies

(2011) Moumita Chaki et al.   KIDNEY INTERNATIONAL

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

(2011) Pawaree Saisawat et al.   KIDNEY INTERNATIONAL

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT)

(2011) A. Brockschmidt et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Mutations inCYP24A1and Idiopathic Infantile Hypercalcemia

(2011) Karl P. Schlingmann et al.   NEW ENGLAND JOURNAL OF MEDICINE

MYO1EMutations and Childhood Familial Focal Segmental Glomerulosclerosis

(2011) Caterina Mele et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Epidemiology of chronic kidney disease in children

(2011) Jérôme Harambat et al.   PEDIATRIC NEPHROLOGY

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Centrosomes and cilia in human disease

(2011) Mónica Bettencourt-Dias et al.   TRENDS IN GENETICS

Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III

(2010) Ruth Belostotsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations

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

Relative Role of Genetic Complement Abnormalities in Sporadic and Familial aHUS and Their Impact on Clinical Phenotype

(2010) M. Noris et al.   Clinical Journal of the American Society of Nephrology

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

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

(2010) Stefania Gimelli et al.   HUMAN MUTATION

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

(2010) O. Boyer et al.   JOURNAL OF MEDICAL GENETICS

The Apolipoprotein L1 (APOL1) Gene and Nondiabetic Nephropathy in African Americans

(2010) B. I. Freedman et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9

(2010) Giulio Genovese et al.   KIDNEY INTERNATIONAL

Genetic kidney diseases

(2010) Friedhelm Hildebrandt   LANCET

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

(2010) Daniel P Gale et al.   LANCET

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

Molecular diagnostics for autosomal dominant polycystic kidney disease

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

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization

(2010) Stefanie Weber et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

(2010) G. Genovese et al.   SCIENCE

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

(2009) Marion Delous et al.   HUMAN MOLECULAR GENETICS

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

(2009) E A Otto et al.   JOURNAL OF MEDICAL GENETICS

Nephronophthisis: Disease Mechanisms of a Ciliopathy

(2009) F. Hildebrandt et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

(2009) Elizabeth J Brown et al.   NATURE GENETICS

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome

(2009) Elena Marcocci et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

(2009) Friedhelm Hildebrandt et al.   PLoS Genetics

Renal Aplasia in Humans Is Associated with RET Mutations

(2008) Michael A. Skinner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in Glucose Transporter 9 Gene SLC2A9 Cause Renal Hypouricemia

(2008) Hirotaka Matsuo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

(2008) Hannah Mandel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

(2008) Samuel F. Berkovic et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SIX2 and BMP4 Mutations Associate With Anomalous Kidney Development

(2008) S. Weber et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis

(2008) E. A. Otto et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A

(2008) Christian Faul et al.   NATURE MEDICINE

NHERF1Mutations and Responsiveness of Renal Parathyroid Hormone

(2008) Zoubida Karim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency

(2008) Giovanni Montini et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in FN1 cause glomerulopathy with fibronectin deposits

(2008) F. Castelletti et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE

The impact of next-generation sequencing technology on genetics

(2008) Elaine R. Mardis   TRENDS IN GENETICS