Next-generation sequencing for research and diagnostics in kidney disease
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Next-generation sequencing for research and diagnostics in kidney disease
Authors
Keywords
-
Journal
Nature Reviews Nephrology
Volume 10, Issue 8, Pages 433-444
Publisher
Springer Nature
Online
2014-06-11
DOI
10.1038/nrneph.2014.95
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
- (2014) Camille Humbert et al. AMERICAN JOURNAL OF HUMAN GENETICS
- iPS cells: a game changer for future medicine
- (2014) H. Inoue et al. EMBO JOURNAL
- Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Next-Generation Sequencing
- (2014) Adrian Y. Tan et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Lithium Causes G2 Arrest of Renal Principal Cells
- (2014) T. de Groot et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- MMP-1 and -3 haplotype is associated with congenital anomalies of the kidney and urinary tract
- (2014) Tamara Djuric et al. PEDIATRIC NEPHROLOGY
- From the Radiologic Pathology Archives: Pediatric Polycystic Kidney Disease and Other Ciliopathies: Radiologic-Pathologic Correlation
- (2014) Ellen M. Chung et al. RADIOGRAPHICS
- Exome sequencing greatly expedites the progressive research of Mendelian diseases
- (2014) Xuejun Zhang Frontiers of Medicine
- Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
- (2013) Jan Halbritter et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
- (2013) Michael O. Dorschner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Expanding Horizons: Ciliary Proteins Reach Beyond Cilia
- (2013) Shiaulou Yuan et al. Annual Review of Genetics
- Pathogenic or not? Assessing the clinical relevance of copy number variants
- (2013) JY Hehir-Kwa et al. CLINICAL GENETICS
- Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes
- (2013) L. Madariaga et al. Clinical Journal of the American Society of Nephrology
- Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome
- (2013) H. J. McCarthy et al. Clinical Journal of the American Society of Nephrology
- Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis
- (2013) I. O. Nasonkin et al. DEVELOPMENT
- A versatile, highly efficient, and potentially safer piggyBac transposon system for mammalian genome manipulations
- (2013) Yaa-Jyuhn James Meir et al. FASEB JOURNAL
- 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
- Rare Variants in Complex Traits: Novel Identification Strategies and the Role of de novo Mutations
- (2013) Loubna Jouan et al. HUMAN HEREDITY
- BBS mutations modify phenotypic expression of CEP290-related ciliopathies
- (2013) Yan Zhang et al. HUMAN MOLECULAR GENETICS
- Birt–Hogg–Dubé syndrome is a novel ciliopathy
- (2013) Monique N.H. Luijten et al. HUMAN MOLECULAR GENETICS
- A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
- (2013) Kornelia Neveling et al. HUMAN MUTATION
- Ethical, Legal, and Counseling Challenges Surrounding the Return of Genetic Results in Oncology
- (2013) Martijn P. Lolkema et al. JOURNAL OF CLINICAL ONCOLOGY
- 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
- Islet1 Deletion Causes Kidney Agenesis and Hydroureter Resembling CAKUT
- (2013) Y. Kaku et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Revolution of nephrology research by deep sequencing: ChIP-seq and RNA-seq
- (2013) Imari Mimura et al. KIDNEY INTERNATIONAL
- NEK8 Links the ATR-Regulated Replication Stress Response and S Phase CDK Activity to Renal Ciliopathies
- (2013) Hyo Jei Claudia Choi et al. MOLECULAR CELL
- Directing human embryonic stem cell differentiation towards a renal lineage generates a self-organizing kidney
- (2013) M. Takasato et al. NATURE CELL BIOLOGY
- ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
- (2013) Sylvia Hoff et al. NATURE GENETICS
- Molecular genetic testing and the future of clinical genomics
- (2013) Sara Huston Katsanis et al. NATURE REVIEWS GENETICS
- Mutations in DSTYK and Dominant Urinary Tract Malformations
- (2013) S. Sanna-Cherchi et al. NEW ENGLAND JOURNAL OF MEDICINE
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT
- (2013) Burcu Bulum et al. PEDIATRIC NEPHROLOGY
- Disclosure of Incidental Findings From Next-Generation Sequencing in Pediatric Genomic Research
- (2013) R. Abdul-Karim et al. PEDIATRICS
- Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice
- (2013) Xitiz Chamling et al. PLoS One
- Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene
- (2013) K. M. Nishiguchi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- New tides: using zebrafish to study renal regeneration
- (2013) Kristen K. McCampbell et al. Translational Research
- Mutations in LRRC50 Predispose Zebrafish and Humans to Seminomas
- (2013) Sander G. Basten et al. PLoS Genetics
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- (2013) Slavé Petrovski et al. PLoS Genetics
- Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
- (2012) Simone Sanna-Cherchi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia
- (2012) Jennifer E. Below et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts
- (2012) Gabrielle M Christenhusz et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Disease gene identification strategies for exome sequencing
- (2012) Christian Gilissen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Clinical application of exome sequencing in undiagnosed genetic conditions
- (2012) Anna C Need et al. JOURNAL OF MEDICAL 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
- Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism
- (2012) Sabine A. Fuchs et al. Metallomics
- De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
- (2012) Bin Xu et al. NATURE GENETICS
- De novo mutations in human genetic disease
- (2012) Joris A. Veltman et al. NATURE REVIEWS GENETICS
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation
- (2012) Paraskevas Iatropoulos et al. PEDIATRIC NEPHROLOGY
- Prevalence of genetic renal disease in children
- (2012) Jeffery Fletcher et al. PEDIATRIC NEPHROLOGY
- Early risk factors for neonatal mortality in CAKUT: analysis of 524 affected newborns
- (2012) Batielhe F. Melo et al. PEDIATRIC NEPHROLOGY
- Current insights into renal ciliopathies: what can genetics teach us?
- (2012) Heleen H. Arts et al. PEDIATRIC NEPHROLOGY
- Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
- (2012) J. H. Lee et al. SCIENCE
- Lgr5+ve Stem/Progenitor Cells Contribute to Nephron Formation during Kidney Development
- (2012) Nick Barker et al. Cell Reports
- Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
- (2011) Cecilie Bredrup et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome sequencing: Dual role as a discovery and diagnostic tool
- (2011) Chee-Seng Ku et al. ANNALS OF NEUROLOGY
- Paper 4: EUROCAT statistical monitoring: Identification and investigation of ten year trends of congenital anomalies in Europe
- (2011) Maria Loane et al. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
- Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
- (2011) Liyun Sang et al. CELL
- Zebrafish: a model system for the study of vertebrate renal development, function, and pathophysiology
- (2011) Lwaki Ebarasi et al. CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
- Calcium/NFAT signalling promotes early nephrogenesis
- (2011) S.F. Burn et al. DEVELOPMENTAL BIOLOGY
- The advent of personal genome sequencing
- (2011) Radoje Drmanac GENETICS IN MEDICINE
- The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase
- (2011) Karlien L.M. Coene et al. HUMAN MOLECULAR GENETICS
- Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice
- (2011) Karsten Boldt et al. JOURNAL OF CLINICAL INVESTIGATION
- 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
- Genetic engineering of human pluripotent cells using TALE nucleases
- (2011) Dirk Hockemeyer et al. NATURE BIOTECHNOLOGY
- TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
- (2011) Erica E Davis et al. NATURE GENETICS
- Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing
- (2011) Magdalena Harakalova et al. Nature Protocols
- Exome sequencing as a tool for Mendelian disease gene discovery
- (2011) Michael J. Bamshad et al. NATURE REVIEWS GENETICS
- Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)
- (2011) K. Y. Renkema et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Ciliopathies
- (2011) Friedhelm Hildebrandt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Unlocking Mendelian disease using exome sequencing
- (2011) Christian Gilissen et al. GENOME BIOLOGY
- Diagnosis and Screening of Autosomal Dominant Polycystic Kidney Disease
- (2010) York Pei et al. ADVANCES IN CHRONIC KIDNEY DISEASE
- Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation
- (2010) Simon Edvardson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Combining target enrichment with barcode multiplexing for high throughput SNP discovery
- (2010) Nik Cummings et al. BMC GENOMICS
- Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
- (2010) J. K. Teer et al. GENOME RESEARCH
- Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
- (2010) E. A. Otto et al. JOURNAL OF MEDICAL GENETICS
- Genetic kidney diseases
- (2010) Friedhelm Hildebrandt LANCET
- Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
- (2010) Edgar A Otto et al. NATURE GENETICS
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples
- (2010) Isaäc J Nijman et al. NATURE METHODS
- Mechanisms of Nephronophthisis and Related Ciliopathies
- (2010) Toby W. Hurd et al. NEPHRON EXPERIMENTAL NEPHROLOGY
- An investigation into the empowerment effects of using online support groups and how this affects health professional/patient communication
- (2010) Yvonne Kiera Bartlett et al. PATIENT EDUCATION AND COUNSELING
- Clinical characteristics and outcomes of children with stage 3–5 chronic kidney disease
- (2010) Tran Thi Mong Hiep et al. PEDIATRIC NEPHROLOGY
- Disclosure of individual genetic data to research participants: the debate reconsidered
- (2010) Annelien L. Bredenoord et al. TRENDS IN GENETICS
- Liver and kidney disease in ciliopathies
- (2009) Meral Gunay-Aygun AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Methods for Genomic Partitioning
- (2009) Emily H. Turner et al. Annual Review of Genomics and Human Genetics
- Nephronophthisis: Disease Mechanisms of a Ciliopathy
- (2009) F. Hildebrandt et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- piggyBac transposition reprograms fibroblasts to induced pluripotent stem cells
- (2009) Knut Woltjen et al. NATURE
- Chemical genetic screening in the zebrafish embryo
- (2009) Charles K Kaufman et al. Nature Protocols
- Five cases of severe vesico-ureteric reflux in a family with an X-linked compatible trait
- (2009) Mitra Naseri et al. PEDIATRIC NEPHROLOGY
- Chemical modifier screen identifies HDAC inhibitors as suppressors of PKD models
- (2009) Y. Cao et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations
- (2009) Friedhelm Hildebrandt et al. PLoS Genetics
- The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
- (2008) Peter N. Robinson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identifying modifier genes of monogenic disease: strategies and difficulties
- (2008) Emmanuelle Génin et al. HUMAN GENETICS
- NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis
- (2008) E. A. Otto et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Restoration of renal function in zebrafish models of ciliopathies
- (2008) Jonathan L. Tobin et al. PEDIATRIC NEPHROLOGY
- Dysplastic kidneys
- (2007) Paul Winyard et al. Seminars in Fetal & Neonatal Medicine
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started