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Title
Paediatric genomics: diagnosing rare disease in children
Authors
Keywords
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Journal
NATURE REVIEWS GENETICS
Volume 19, Issue 5, Pages 253-268
Publisher
Springer Nature
Online
2018-02-05
DOI
10.1038/nrg.2017.116
References
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Note: Only part of the references are listed.- Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study
- (2017) Elizabeth Ormondroyd et al. EUROPEAN JOURNAL OF HUMAN GENETICS
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- (2017) Daniele Carrieri et al. EUROPEAN JOURNAL OF HUMAN GENETICS
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- (2017) Jamie M Ellingford et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A review of the physical features of the fetal alcohol spectrum disorders
- (2017) Miguel del Campo et al. European Journal of Medical Genetics
- Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
- (2017) Keith Nykamp et al. GENETICS IN MEDICINE
- A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
- (2017) Lisenka E.L.M. Vissers et al. GENETICS IN MEDICINE
- Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics
- (2017) ACMG Board of Directors GENETICS IN MEDICINE
- Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
- (2017) Zornitza Stark et al. GENETICS IN MEDICINE
- CFTR -France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants
- (2017) Mireille Claustres et al. HUMAN MUTATION
- Whole genome sequencing in children: ethics, choice and deliberation
- (2017) Ainsley J Newson JOURNAL OF MEDICAL ETHICS
- Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage
- (2017) Nicole M. Gaudelli et al. NATURE
- Resequencing at scale in neurodevelopmental disorders
- (2017) David R FitzPatrick NATURE GENETICS
- Pathogenic variants that alter protein code often disrupt splicing
- (2017) Rachel Soemedi et al. NATURE GENETICS
- Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
- (2017) Daniel J Weiner et al. NATURE GENETICS
- Williams syndrome deletions and duplications: Genetic windows to understanding anxiety, sociality, autism, and schizophrenia
- (2017) Bernard J. Crespi et al. NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
- When One Diagnosis Is Not Enough
- (2017) Kym M. Boycott et al. NEW ENGLAND JOURNAL OF MEDICINE
- Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del
- (2017) Jennifer L. Taylor-Cousar et al. NEW ENGLAND JOURNAL OF MEDICINE
- Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
- (2017) Richard S. Finkel 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
- Newborn Sequencing in Genomic Medicine and Public Health
- (2017) Jonathan S. Berg et al. PEDIATRICS
- Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication
- (2017) Pavithra L. Chavali et al. SCIENCE
- RNA editing with CRISPR-Cas13
- (2017) David B. T. Cox et al. SCIENCE
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
- (2017) Beryl B. Cummings et al. Science Translational Medicine
- Lessons learned from additional research analyses of unsolved clinical exome cases
- (2017) Mohammad K. Eldomery et al. Genome Medicine
- A variant by any name: quantifying annotation discordance across tools and clinical databases
- (2017) Jennifer L. Yen et al. Genome Medicine
- Use of Exome Sequencing for Infants in Intensive Care Units
- (2017) Linyan Meng et al. JAMA Pediatrics
- Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
- (2017) Tiong Yang Tan et al. JAMA Pediatrics
- Assessment of safety and efficacy of long-term treatment with combination lumacaftor and ivacaftor therapy in patients with cystic fibrosis homozygous for the F508del-CFTR mutation (PROGRESS): a phase 3, extension study
- (2017) Michael W Konstan et al. Lancet Respiratory Medicine
- Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules
- (2016) Korinna Kochinke et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants
- (2016) T. F. Beck et al. CLINICAL CHEMISTRY
- Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
- (2016) J. Thevenon et al. CLINICAL GENETICS
- Diagnostic Testing in Cystic Fibrosis
- (2016) John Brewington et al. CLINICS IN CHEST MEDICINE
- Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes
- (2016) Kashyap A. Patel et al. DIABETES
- Recommendations for the integration of genomics into clinical practice
- (2016) Sarah Bowdin et al. GENETICS IN MEDICINE
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
- (2016) Sarah S. Kalia et al. GENETICS IN MEDICINE
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- (2016) Jonas Ghouse et al. GENETICS IN MEDICINE
- A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
- (2016) Zornitza Stark et al. GENETICS IN MEDICINE
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- (2016) David Salgado et al. HUMAN MUTATION
- Leveraging gene-environment interactions and endotypes for asthma gene discovery
- (2016) Klaus Bønnelykke et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?
- (2016) J A Anderson et al. JOURNAL OF MEDICAL ETHICS
- The importance of genetic diagnosis for Duchenne muscular dystrophy
- (2016) Annemieke Aartsma-Rus et al. JOURNAL OF MEDICAL GENETICS
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- (2016) Richard S Finkel et al. LANCET
- Genomics is failing on diversity
- (2016) Alice B. Popejoy et al. NATURE
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- (2016) Daniel P. Dever et al. NATURE
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- Clinical detection of deletion structural variants in whole-genome sequences
- (2016) Aaron C Noll et al. npj Genomic Medicine
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- (2015) Jeffrey R. Botkin et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Principle of proportionality in genomic data sharing
- (2015) Caroline F. Wright et al. NATURE REVIEWS GENETICS
- Genetic studies in intellectual disability and related disorders
- (2015) Lisenka E. L. M. Vissers et al. NATURE REVIEWS GENETICS
- Estimating the mutation load in human genomes
- (2015) Brenna M. Henn et al. NATURE REVIEWS GENETICS
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
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- Exome Sequencing: Current and Future Perspectives
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- Advancing epilepsy genetics in the genomic era
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- Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
- (2015) GENOME BIOLOGY
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- (2015) Laurel K Willig et al. Lancet Respiratory Medicine
- Assessing single nucleotide variant detection and genotype calling on whole-genome sequenced individuals
- (2014) Anthony Youzhi Cheng et al. BIOINFORMATICS
- Managing the ethical challenges of next-generation sequencing in genomic medicine
- (2014) A. J. Clarke BRITISH MEDICAL BULLETIN
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- (2014) Shiri Shkedi-Rafid et al. EUROPEAN JOURNAL OF HUMAN GENETICS
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- (2014) Jonathan J Rios et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The translational potential of research on the ethical, legal and social implications of genomics
- (2014) Wylie Burke et al. GENETICS IN MEDICINE
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- (2014) Toshifumi Suzuki et al. JOURNAL OF HUMAN GENETICS
- Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
- (2014) Morad Ansari et al. JOURNAL OF MEDICAL GENETICS
- Large-scale discovery of novel genetic causes of developmental disorders
- (2014) T. W. Fitzgerald et al. NATURE
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
- (2014) Joanna S. Amberger et al. NUCLEIC ACIDS RESEARCH
- Pediatric Data Sharing in Genomic Research: Attitudes and Preferences of Parents
- (2014) M. D. Burstein et al. PEDIATRICS
- Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
- (2014) S. E. Soden et al. Science Translational Medicine
- Do Researchers Have an Obligation to Actively Look for Genetic Incidental Findings?
- (2013) Catherine Gliwa et al. AMERICAN JOURNAL OF BIOETHICS
- The global burden of congenital toxoplasmosis: a systematic review
- (2013) Paul R Torgerson et al. BULLETIN OF THE WORLD HEALTH ORGANIZATION
- Whole-genome sequencing in health care
- (2013) Carla G van El et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)
- (2013) Mireille Claustres et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Genetic susceptibility to meningococcal infection
- (2013) Adam P Dale et al. Expert Review of Anti-Infective Therapy
- Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not
- (2013) Gillian Crawford et al. GENETICS IN MEDICINE
- The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders
- (2013) Vandana Shashi et al. GENETICS IN MEDICINE
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
- (2013) Robert C. Green et al. GENETICS IN MEDICINE
- Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing
- (2013) Joep de Ligt et al. HUMAN MUTATION
- Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories
- (2013) Marjan M. Weiss et al. HUMAN MUTATION
- Rare-disease genetics in the era of next-generation sequencing: discovery to translation
- (2013) Kym M. Boycott et al. NATURE REVIEWS GENETICS
- Molecular genetic testing and the future of clinical genomics
- (2013) Sara Huston Katsanis et al. NATURE REVIEWS GENETICS
- Sequencing studies in human genetics: design and interpretation
- (2013) David B. Goldstein et al. NATURE REVIEWS GENETICS
- DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
- (2013) Eugene Bragin et al. NUCLEIC ACIDS RESEARCH
- The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
- (2013) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- CFTR2: How will it help care?
- (2013) Carlo Castellani Paediatric Respiratory Reviews
- Ethical and Policy Issues in Genetic Testing and Screening of Children
- (2013) et al. PEDIATRICS
- Identifying Personal Genomes by Surname Inference
- (2013) M. Gymrek et al. SCIENCE
- Policy challenges of clinical genome sequencing
- (2013) C. F. Wright et al. BMJ-British Medical Journal
- Implementing a successful data-management framework: the UK10K managed access model
- (2013) Dawn Muddyman et al. Genome Medicine
- Incidental findings in genetic research and clinical diagnostic tests: A systematic review
- (2012) Leigh Jackson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- Informatics and clinical genome sequencing: opening the black box
- (2012) Sowmiya Moorthie et al. GENETICS IN MEDICINE
- Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project
- (2012) Leslie G. Biesecker GENETICS IN MEDICINE
- Managing incidental findings and research results in genomic research involving biobanks and archived data sets
- (2012) Susan M. Wolf et al. GENETICS IN MEDICINE
- Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments: Figure 1
- (2012) Cara Mand et al. JOURNAL OF MEDICAL ETHICS
- A Multi-Exon-Skipping Detection Assay Reveals Surprising Diversity of Splice Isoforms of Spinal Muscular Atrophy Genes
- (2012) Natalia N. Singh et al. PLoS One
- Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
- (2012) C. J. Saunders et al. Science Translational Medicine
- Preventing overdiagnosis: how to stop harming the healthy
- (2012) R. Moynihan et al. BMJ-British Medical Journal
- The Tension Between Data Sharing and the Protection of Privacy in Genomics Research
- (2011) Jane Kaye Annual Review of Genomics and Human Genetics
- The variant call format and VCFtools
- (2011) P. Danecek et al. BIOINFORMATICS
- The Deciphering Developmental Disorders (DDD) study
- (2011) HELEN V FIRTH et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Testing Children for Adult-Onset Genetic Diseases
- (2011) E. C. F. Caga-anan et al. PEDIATRICS
- Whole-Genome Sequencing for Optimized Patient Management
- (2011) M. N. Bainbridge et al. Science Translational Medicine
- 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
- The importance of rare diseases: from the gene to society
- (2010) J. A. Dodge et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
- (2010) Elizabeth A Worthey et al. GENETICS IN MEDICINE
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects
- (2009) Gurdeep S Sagoo et al. GENETICS IN MEDICINE
- Next-generation DNA sequencing techniques
- (2009) Wilhelm J. Ansorge New Biotechnology
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- Incidental Findings in Pediatric Research
- (2008) Benjamin S. Wilfond et al. JOURNAL OF LAW MEDICINE & ETHICS
- Incidental Findings in Genetics Research Using Archived DNA
- (2008) Ellen Wright Clayton JOURNAL OF LAW MEDICINE & ETHICS
- McKusick's Online Mendelian Inheritance in Man (OMIM(R))
- (2008) J. Amberger et al. NUCLEIC ACIDS RESEARCH
- The impact of next-generation sequencing technology on genetics
- (2008) Elaine R. Mardis TRENDS IN GENETICS
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