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Title
Genomic medicine for kidney disease
Authors
Keywords
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Journal
Nature Reviews Nephrology
Volume 14, Issue 2, Pages 83-104
Publisher
Springer Nature
Online
2018-01-08
DOI
10.1038/nrneph.2017.167
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- (2013) Detlef Bockenhauer et al. PEDIATRIC NEPHROLOGY
- Ethical and Policy Issues in Genetic Testing and Screening of Children
- (2013) et al. PEDIATRICS
- Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
- (2012) Simone Sanna-Cherchi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genetic Discrimination: International Perspectives
- (2012) M. Otlowski et al. Annual Review of Genomics and Human Genetics
- Adenine Phosphoribosyltransferase Deficiency
- (2012) G. Bollee et al. Clinical Journal of the American Society of Nephrology
- Disease gene identification strategies for exome sequencing
- (2012) Christian Gilissen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Points to consider in the clinical application of genomic sequencing
- (2012) GENETICS IN MEDICINE
- Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients
- (2012) Marie-Pierre Audrézet et al. HUMAN MUTATION
- Next-generation sequencing demands next-generation phenotyping
- (2012) Raoul C.M. Hennekam et al. HUMAN MUTATION
- Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics
- (2012) Joris R. Vermeesch et al. HUMAN MUTATION
- 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
- Association of APOL1 variants with mild kidney disease in the first-degree relatives of African American patients with non-diabetic end-stage renal disease
- (2012) Barry I. Freedman et al. KIDNEY INTERNATIONAL
- Bring clinical standards to human-genetics research
- (2012) Gholson J. Lyon NATURE
- Influence of race, ethnicity and socioeconomic status on kidney disease
- (2012) Rachel E. Patzer et al. Nature Reviews Nephrology
- Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice
- (2012) Wim Terryn et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth
- (2012) Uma M. Reddy et al. NEW ENGLAND JOURNAL OF MEDICINE
- Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
- (2012) Ronald J. Wapner et al. NEW ENGLAND JOURNAL OF MEDICINE
- The renal biopsy in the genomic era
- (2012) Helen Liapis et al. PEDIATRIC NEPHROLOGY
- Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
- (2012) C. J. Saunders et al. Science Translational Medicine
- Next-generation community genetics for low- and middle-income countries
- (2012) Stephen F Kingsmore et al. Genome Medicine
- Notice
- (2012) Kidney International Supplements
- Chapter 1: Definition and classification of CKD
- (2012) Kidney International Supplements
- Copy Number and SNP Arrays in Clinical Diagnostics
- (2011) Christian P. Schaaf et al. Annual Review of Genomics and Human Genetics
- Neurocognitive Functioning of Children and Adolescents with Mild-to-Moderate Chronic Kidney Disease
- (2011) S. R. Hooper et al. Clinical Journal of the American Society of Nephrology
- Clinical Pharmacogenetics Implementation Consortium Guidelines for Thiopurine Methyltransferase Genotype and Thiopurine Dosing
- (2011) M V Relling et al. CLINICAL PHARMACOLOGY & THERAPEUTICS
- Motivators for participation in a whole-genome sequencing study: implications for translational genomics research
- (2011) Flavia M Facio et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5
- (2011) Takayuki Okamoto et al. EUROPEAN JOURNAL OF PEDIATRICS
- American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
- (2011) Hutton M Kearney et al. GENETICS IN MEDICINE
- Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
- (2011) Jonathan S Berg et al. GENETICS IN MEDICINE
- Revisiting Mendelian disorders through exome sequencing
- (2011) Chee-Seng Ku et al. HUMAN GENETICS
- 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
- Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease
- (2011) Meral Gunay-Aygun et al. MOLECULAR GENETICS AND METABOLISM
- Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
- (2011) Dalila Pinto et al. NATURE BIOTECHNOLOGY
- Exome sequencing as a tool for Mendelian disease gene discovery
- (2011) Michael J. Bamshad et al. NATURE REVIEWS GENETICS
- Genome structural variation discovery and genotyping
- (2011) Can Alkan et al. NATURE REVIEWS GENETICS
- The Coming Explosion in Genetic Testing — Is There a Duty to Recontact?
- (2011) Reed E. Pyeritz NEW ENGLAND JOURNAL OF MEDICINE
- Glucose-6-phosphatase deficiency
- (2011) Roseline Froissart et al. Orphanet Journal of Rare Diseases
- Epidemiology of chronic kidney disease in children
- (2011) Jérôme Harambat et al. PEDIATRIC NEPHROLOGY
- Heritability of serum sodium concentration: evidence for sex- and ethnic-specific effects
- (2011) Beth Wilmot et al. PHYSIOLOGICAL GENOMICS
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recurrent Deep Intronic Mutations in the SLC12A3 Gene Responsible for Gitelman's Syndrome
- (2010) Y.-F. Lo et al. Clinical Journal of the American Society of Nephrology
- A Survey-Based Evaluation of Self-Perceived Competency after Nephrology Fellowship Training
- (2010) J. S. Berns Clinical Journal of the American Society of Nephrology
- Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe
- (2010) Heather Skirton et al. EUROPEAN 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
- Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
- (2010) David N. Cooper et al. HUMAN MUTATION
- Genotype-Phenotype Correlation in X-Linked Alport Syndrome
- (2010) M. R. Bekheirnia et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Early recognition and prevention of chronic kidney disease
- (2010) Matthew T James et al. LANCET
- 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
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
- Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations
- (2010) Louise Harewood et al. PLoS One
- 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
- An investigation of patients' motivations for their participation in genetics-related research
- (2009) N Hallowell et al. JOURNAL OF MEDICAL ETHICS
- PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis
- (2009) Meral Gunay-Aygun et al. MOLECULAR GENETICS AND METABOLISM
- Dent’s disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?
- (2009) Yaacov Frishberg et al. PEDIATRIC NEPHROLOGY
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
- (2009) Murim Choi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Next generation disparities in human genomics: concerns and remedies
- (2009) Anna C. Need et al. TRENDS IN GENETICS
- US system of oversight for genetic testing: a report from the Secretary’s Advisory Committee on Genetics, Health and Society
- (2008) M Aspinall et al. Personalized Medicine
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