Rare genetic causes of complex kidney and urological diseases

Variable prediction accuracy of polygenic scores within an ancestry group

(2020) Hakhamanesh Mostafavi et al.   eLife

Genetic Testing for Kidney Disease of Unknown Etiology

(2020) Thomas Hays et al.   KIDNEY INTERNATIONAL

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome

(2020) Nan Yang et al.   KIDNEY INTERNATIONAL

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

(2019) Caroline F. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized with Early-Onset Myocardial Infarction

(2019) Amit V. Khera et al.   CIRCULATION

Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS

(2019) Tony Yao et al.   Clinical Journal of the American Society of Nephrology

Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract

(2019) Shuangshuang Dong et al.   MOLECULAR GENETICS AND GENOMICS

Personalized medicine in chronic kidney disease by detection of monogenic mutations

(2019) Dervla M Connaughton et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

Autosomal dominant polycystic kidney disease

(2019) Emilie Cornec-Le Gall et al.   LANCET

Identification of 22 novel loci associated with urinary biomarkers of albumin, sodium, and potassium excretion

(2019) Daniela Zanetti et al.   KIDNEY INTERNATIONAL

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study

(2019) Dominique P. Germain et al.   GENETICS IN MEDICINE

Monogenic causes of chronic kidney disease in adults

(2019) Dervla M. Connaughton et al.   KIDNEY INTERNATIONAL

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children

(2019) Asaf Vivante et al.   PEDIATRIC NEPHROLOGY

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

(2019) Sarah E. Graham et al.   Nature Communications

Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system

(2019) Jia Rao et al.   CLINICAL GENETICS

A catalog of genetic loci associated with kidney function from analyses of a million individuals

(2019) Matthias Wuttke et al.   NATURE GENETICS

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

(2019) Laure Frésard et al.   NATURE MEDICINE

Reanalysis of Clinical Exome Sequencing Data

(2019) Pengfei Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen

(2019) Rany M. Salem et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

ALG9 Mutation Carriers Develop Kidney and Liver Cysts

(2019) Whitney Besse et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

(2019) Pierre Vabres et al.   NATURE GENETICS

Autosomal dominant tubulointerstitial kidney disease

(2019) Olivier Devuyst et al.   Nature Reviews Disease Primers

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

(2019) Stephen F. Kingsmore et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Polygenic burden in focal and generalized epilepsies

(2019) Costin Leu et al.   BRAIN

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases

(2019) M Adela Mansilla et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

(2019) Pejman Mohammadi et al.   SCIENCE

Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome

(2019) Samuela Landini et al.   Clinical Journal of the American Society of Nephrology

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

(2018) Emilie Cornec-Le Gall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations

(2018) Emilie Cornec-Le Gall et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Pathogenic Germline Variants in 10,389 Adult Cancers

(2018) Kuan-lin Huang et al.   CELL

A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes

(2018) Natalie R. van Zuydam et al.   DIABETES

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

(2018) Lisa J Ewans et al.   GENETICS IN MEDICINE

Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)

(2018) Desirée Schubert et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Genetic basis of human congenital anomalies of the kidney and urinary tract

(2018) Simone Sanna-Cherchi et al.   JOURNAL OF CLINICAL INVESTIGATION

Noninvasive Immunohistochemical Diagnosis and NovelMUC1Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

(2018) Martina Živná et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group

(2018) Clifford E. Kashtan et al.   KIDNEY INTERNATIONAL

The personal and clinical utility of polygenic risk scores

(2018) Ali Torkamani et al.   NATURE REVIEWS GENETICS

Genomic medicine for kidney disease

(2018) Emily E. Groopman et al.   Nature Reviews Nephrology

Renin cells in homeostasis, regeneration and immune defence mechanisms

(2018) R. Ariel Gomez et al.   Nature Reviews Nephrology

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

(2018) David Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

(2018) Merrill D. Benson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Expert consensus guidelines for the genetic diagnosis of Alport syndrome

(2018) Judy Savige et al.   PEDIATRIC NEPHROLOGY

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

(2018) Lisa Bastarache et al.   SCIENCE

Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease – a case report

(2018) Veronika Elisakova et al.   BMC Nephrology

Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion

(2018) Rhian L. Clissold et al.   Clinical Epigenetics

A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function

(2018) Lea M. Starita et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease

(2018) Matthew B Lanktree et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Molecular genetics of 22q11.2 deletion syndrome

(2018) Bernice E. Morrow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome

(2018) Jason P. Van Batavia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing

(2018) Hila Milo Rasouly et al.   ANNALS OF INTERNAL MEDICINE

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

(2018) Edgar A. Rivera-Muñoz et al.   HUMAN MUTATION

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank

(2018) Karen Crawford et al.   JOURNAL OF MEDICAL GENETICS

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

(2018) Miguel Verbitsky et al.   NATURE GENETICS

Genome-wide polygenic risk predictors for kidney disease

(2018) Lili Liu et al.   Nature Reviews Nephrology

Diagnostic Utility of Exome Sequencing for Kidney Disease

(2018) Emily E. Groopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I

(2018) Nerea Zabaleta et al.   Nature Communications

Molecular diagnosis of autosomal dominant polycystic kidney disease

(2017) Xuewen Song et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

(2017) Anath C Lionel et al.   GENETICS IN MEDICINE

Detection of structural mosaicism from targeted and whole-genome sequencing data

(2017) Daniel A. King et al.   GENOME RESEARCH

Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome

(2017) Sergio Daga et al.   HUMAN MUTATION

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases

(2017) Emilie Cornec-Le Gall et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A population-based approach to assess the heritability and distribution of renal handling of electrolytes

(2017) Flore Moulin et al.   KIDNEY INTERNATIONAL

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders

(2017) Andrew J. Mallett et al.   KIDNEY INTERNATIONAL

Challenges in conducting clinical trials in nephrology: conclusions from a Kidney Disease—Improving Global Outcomes (KDIGO) Controversies Conference

(2017) Colin Baigent et al.   KIDNEY INTERNATIONAL

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management

(2017) Agnieszka Bierzynska et al.   KIDNEY INTERNATIONAL

Chronic Kidney Disease

(2017) Angela C Webster et al.   LANCET

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

(2017) Young Seok Ju et al.   NATURE

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

(2017) Helen R Warren et al.   NATURE GENETICS

Autism genetics: opportunities and challenges for clinical translation

(2017) Jacob A. S. Vorstman et al.   NATURE REVIEWS GENETICS

Uromodulin: from physiology to rare and complex kidney disorders

(2017) Olivier Devuyst et al.   Nature Reviews Nephrology

Differences in acute kidney injury ascertainment for clinical and preclinical studies

(2017) Marco Fiorentino et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

(2017) Esther Lopez-Rivera et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gene Therapy in a Patient with Sickle Cell Disease

(2017) Jean-Antoine Ribeil et al.   NEW ENGLAND JOURNAL OF MEDICINE

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

(2017) Chiara Chiereghin et al.   PLoS One

Murine model indicates 22q11.2 signaling adaptorCRKLis a dosage-sensitive regulator of genitourinary development

(2017) Meade Haller et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

(2017) Beryl B. Cummings et al.   Science Translational Medicine

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

(2017) Thomas M. Connor et al.   PLoS Genetics

Cell lineage of timed cohorts ofTbx6-expressing cells in wild-type andTbx6mutant embryos

(2017) Daniel Concepcion et al.   Biology Open

Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

(2016) Binu Porath et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

(2016) Nikhita Ajit Bolar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort

(2016) Kyle J. Steinman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Alport Syndrome in Women and Girls

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

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

(2016) N. Kamiyoshi et al.   Clinical Journal of the American Society of Nephrology

The role of hepatocyte nuclear factor 1β in disease and development

(2016) R. El-Khairi et al.   DIABETES OBESITY & METABOLISM

Duplications of SLC1A3: Associated with ADHD and autism

(2016) Claudia J.M. van Amen-Hellebrekers et al.   European Journal of Medical Genetics

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

(2016) Elfrida R. Benjamin et al.   GENETICS IN MEDICINE

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

(2016) Aaron M. Wenger et al.   GENETICS IN MEDICINE

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

(2016) Derralynn A Hughes et al.   JOURNAL OF MEDICAL GENETICS

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract

(2016) Asaf Vivante et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease

(2016) C. M. Heyer et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The Genetic Landscape of Renal Complications in Type 1 Diabetes

(2016) Niina Sandholm et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria

(2016) Abigail Liebow et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

(2016) Daniela A. Braun et al.   KIDNEY INTERNATIONAL

Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder

(2016) Rhian L. Clissold et al.   KIDNEY INTERNATIONAL

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci

(2016) Chunyu Liu et al.   NATURE GENETICS

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

(2016) Claire Redin et al.   NATURE GENETICS

Coming of age: ten years of next-generation sequencing technologies

(2016) Sara Goodwin et al.   NATURE REVIEWS GENETICS

Insights into kidney diseases from genome-wide association studies

(2016) Matthias Wuttke et al.   Nature Reviews Nephrology

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

(2016) Dominique P. Germain et al.   NEW ENGLAND JOURNAL OF MEDICINE

Developing Treatments for Chronic Kidney Disease in the 21st Century

(2016) Matthew D. Breyer et al.   SEMINARS IN NEPHROLOGY

DNA copy number variants: A potentially useful predictor of early onset renal failure in boys with posterior urethral valves

(2016) A. Faure et al.   Journal of Pediatric Urology

Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation

(2015) Silvia E. Racedo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Genomic imbalances in pediatric patients with chronic kidney disease

(2015) Miguel Verbitsky et al.   JOURNAL OF CLINICAL INVESTIGATION

The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees

(2015) C. Antignac et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease

(2015) Y.-H. Hwang et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease

(2015) E. Cornec-Le Gall et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population

(2015) Consolación Rosado et al.   KIDNEY & BLOOD PRESSURE RESEARCH

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

(2015) Kai-Uwe Eckardt et al.   KIDNEY INTERNATIONAL

Genetic, environmental and epigenetic factors involved in CAKUT

(2015) Nayia Nicolaou et al.   Nature Reviews Nephrology

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

(2015) Christine Gast et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

(2015) Nan Wu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Germline Mutations in Predisposition Genes in Pediatric Cancer

(2015) Jinghui Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Comparison of Heritability of Cystatin C- and Creatinine-Based Estimates of Kidney Function and Their Relation to Heritability of Cardiovascular Disease

(2015) J. Arpegard et al.   Journal of the American Heart Association

Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome

(2014) Fanny Laffargue et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Describing the genetic architecture of epilepsy through heritability analysis

(2014) Doug Speed et al.   BRAIN

Familial Clustering of ESRD in the Norwegian Population

(2014) R. Skrunes et al.   Clinical Journal of the American Society of Nephrology

Heritability of Urinary Traits That Contribute to Nephrolithiasis

(2014) J. C. Lieske et al.   Clinical Journal of the American Society of Nephrology

Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease

(2014) Francisco J. Gonzalez-Paredes et al.   GENE

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Mutations in PAX2 Associate with Adult-Onset FSGS

(2014) M. Barua et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

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

Rare inherited kidney diseases: challenges, opportunities, and perspectives

(2014) Olivier Devuyst et al.   LANCET

HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum

(2014) Rhian L. Clissold et al.   Nature Reviews Nephrology

Copy-number variation associated with congenital anomalies of the kidney and urinary tract

(2014) Georgina Caruana et al.   PEDIATRIC NEPHROLOGY

Lhx1 Controls Terminal Differentiation and Circadian Function of the Suprachiasmatic Nucleus

(2014) Joseph L. Bedont et al.   Cell Reports

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

(2013) Santhosh Girirajan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

The Modern Spectrum of Renal Biopsy Findings in Patients with Diabetes

(2013) S. G. Sharma et al.   Clinical Journal of the American Society of Nephrology

COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome

(2013) H. Storey et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Type of PKD1 Mutation Influences Renal Outcome in ADPKD

(2013) E. Cornec-Le Gall et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

(2013) Heon Yung Gee et al.   KIDNEY INTERNATIONAL

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

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

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

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

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

(2012) Flore Zufferey et al.   JOURNAL OF MEDICAL GENETICS

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

What is complex about complex disorders?

(2012) Kevin J Mitchell   GENOME BIOLOGY

Chapter 1: Definition and classification of CKD

(2012)   Kidney International Supplements

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Identification of novel Hoxa1 downstream targets regulating hindbrain, neural crest and inner ear development

(2011) Nadja Makki et al.   DEVELOPMENTAL BIOLOGY

Renal coloboma syndrome

(2011) Lisa A Schimmenti   EUROPEAN JOURNAL OF HUMAN GENETICS

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

(2011) Matthew Bower et al.   HUMAN MUTATION

Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

(2011) C. Bergmann et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Risk HLA-DQA1 and PLA2R1 Alleles in Idiopathic Membranous Nephropathy

(2011) Horia C. Stanescu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

(2010) Carrie M Louie et al.   NATURE GENETICS

Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

(2010) G. Genovese et al.   SCIENCE

Individuals With a Family History of ESRD Are a High-Risk Population for CKD: Implications for Targeted Surveillance and Intervention Activities

(2009) William M. McClellan et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

(2009) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome

(2009) M. N. Rheault et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

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

(2009) Elena Marcocci et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome

(2008) R. P. Krol et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

DNA polymorphisms at the BCL11A, HBS1L-MYB, and  -globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

(2008) G. Lettre et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

hnf1b Genes in Zebrafish Hindbrain Development

(2008) Seong-Kyu Choe et al.   Zebrafish