Published in Nat Rev Genet on March 12, 2013
A Pilot Project Exploring the Impact of Whole Genome Sequencing in Healthcare | NCT01736566
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
Molecular genetic testing and the future of clinical genomics. Nat Rev Genet (2013) 2.03
Genes and mutations causing retinitis pigmentosa. Clin Genet (2013) 2.03
Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol (2013) 1.88
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. J Cardiovasc Transl Res (2016) 1.61
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci Transl Med (2014) 1.55
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. PLoS Genet (2015) 1.47
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med (2014) 1.46
Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease. Ann Indian Acad Neurol (2014) 1.42
Genetic Misdiagnoses and the Potential for Health Disparities. N Engl J Med (2016) 1.42
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases. Genome Biol (2015) 1.39
Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel. PLoS One (2015) 1.38
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. Acta Neuropathol Commun (2014) 1.18
Comparison of predicted and actual consequences of missense mutations. Proc Natl Acad Sci U S A (2015) 1.17
An analytical framework for optimizing variant discovery from personal genomes. Nat Commun (2015) 1.13
Genetic-based prediction of disease traits: prediction is very difficult, especially about the future. Front Genet (2014) 1.12
Navigating the rapids: the development of regulated next-generation sequencing-based clinical trial assays and companion diagnostics. Front Oncol (2014) 1.12
Some experiences and opportunities for big data in translational research. Genet Med (2013) 1.12
The genetic landscape of Alzheimer disease: clinical implications and perspectives. Genet Med (2015) 1.09
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet (2015) 1.03
TCP1 complex proteins interact with phosphorothioate oligonucleotides and can co-localize in oligonucleotide-induced nuclear bodies in mammalian cells. Nucleic Acids Res (2014) 1.02
Applications of high-throughput DNA sequencing to benign hematology. Blood (2013) 1.01
The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers. J Pers Med (2016) 1.00
Evaluation of an integrated clinical workflow for targeted next-generation sequencing of low-quality tumor DNA using a 51-gene enrichment panel. BMC Med Genomics (2014) 0.95
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet (2015) 0.93
Human genotype-phenotype databases: aims, challenges and opportunities. Nat Rev Genet (2015) 0.93
Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice. Fam Cancer (2014) 0.92
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy (2015) 0.91
Enhanced methods for local ancestry assignment in sequenced admixed individuals. PLoS Comput Biol (2014) 0.91
Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care. Otolaryngol Head Neck Surg (2015) 0.91
Next-generation sequencing in X-linked intellectual disability. Eur J Hum Genet (2015) 0.89
Cpipe: a shared variant detection pipeline designed for diagnostic settings. Genome Med (2015) 0.89
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. Neuromuscul Disord (2015) 0.89
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons. Eur J Hum Genet (2015) 0.89
Genetic testing in cardiovascular diseases. Curr Opin Cardiol (2014) 0.88
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis. Bone (2013) 0.88
Genetic testing in congenital heart disease: A clinical approach. World J Cardiol (2016) 0.88
Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation. Genet Med (2016) 0.88
Clinical Next Generation Sequencing for Precision Medicine in Cancer. Curr Genomics (2015) 0.87
Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection. Hum Genet (2014) 0.87
Assessment of the latest NGS enrichment capture methods in clinical context. Sci Rep (2016) 0.87
Next-generation sequencing for the diagnosis of cardiac arrhythmia syndromes. Heart Rhythm (2015) 0.87
The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels. Eur J Hum Genet (2014) 0.87
A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases. Circ Res (2015) 0.84
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies. Pediatr Nephrol (2014) 0.83
Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar. J Transl Med (2015) 0.83
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies. Brain (2014) 0.83
MutAid: Sanger and NGS Based Integrated Pipeline for Mutation Identification, Validation and Annotation in Human Molecular Genetics. PLoS One (2016) 0.83
A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications. Nucleic Acids Res (2014) 0.82
The missing indels: an estimate of indel variation in a human genome and analysis of factors that impede detection. Nucleic Acids Res (2015) 0.81
Delivery of a clinical genomics service. Genes (Basel) (2014) 0.81
Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care. Cancer Med (2015) 0.81
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet J Rare Dis (2015) 0.81
Clinical application of next-generation sequencing for Mendelian diseases. Hum Genomics (2015) 0.81
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN. Wellcome Open Res (2016) 0.80
Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar. Circ Cardiovasc Genet (2013) 0.80
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy. BMC Med Genet (2014) 0.80
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation. Genet Med (2015) 0.80
Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project. BMC Med Genet (2015) 0.80
Sources of discordance among germ-line variant classifications in ClinVar. Genet Med (2017) 0.79
Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy. Sci Rep (2016) 0.79
Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing. J Neural Transm (Vienna) (2017) 0.79
Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods. Hum Mutat (2014) 0.79
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep (2016) 0.79
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC Genet (2014) 0.78
The Emergent Landscape of Detecting EGFR Mutations Using Circulating Tumor DNA in Lung Cancer. Biomed Res Int (2015) 0.78
A time-and-motion approach to micro-costing of high-throughput genomic assays. Curr Oncol (2016) 0.78
Application of cancer genomics to solve unmet clinical needs. Genomics Inform (2013) 0.77
A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies. Eye (Lond) (2016) 0.76
Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome. Sci Rep (2014) 0.76
Utility of next generation sequencing in clinical primary immunodeficiencies. Curr Allergy Asthma Rep (2014) 0.76
Single molecule targeted sequencing for cancer gene mutation detection. Sci Rep (2016) 0.75
As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene. J Bone Miner Res (2014) 0.75
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment. PeerJ (2017) 0.75
Genetics: A New Frontier in Otology. Indian J Otolaryngol Head Neck Surg (2016) 0.75
The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data. PLoS One (2015) 0.75
Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil. J Community Genet (2015) 0.75
Analysis of amplicon-based NGS data from neurological disease gene panels: a new method for allele drop-out management. BMC Bioinformatics (2016) 0.75
NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness. Neural Plast (2016) 0.75
Comparative mutational landscape analysis of patient-derived tumour xenografts. Br J Cancer (2017) 0.75
Sequencing-based diagnostics for pediatric genetic diseases: progress and potential. Expert Rev Mol Diagn (2016) 0.75
Challenges in Molecular Diagnostics of Channelopathies in the Next-Generation Sequencing Era: Less Is More? Front Cardiovasc Med (2016) 0.75
Understanding Molecular Landscape of Endometrial Cancer through Next Generation Sequencing: What We Have Learned so Far? Front Pharmacol (2016) 0.75
Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders. Front Cardiovasc Med (2017) 0.75
Targeted next-generation sequencing to diagnose disorders of HDL cholesterol. J Lipid Res (2015) 0.75
What lies beyond del(5q) in myelodysplastic syndrome? Haematologica (2013) 0.75
The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies. Sci Rep (2016) 0.75
Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS. J Hum Genet (2017) 0.75
Cancer in silico drug discovery: a systems biology tool for identifying candidate drugs to target specific molecular tumor subtypes. Mol Cancer Ther (2014) 0.75
Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis. PLoS One (2016) 0.75
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape. Sci Rep (2017) 0.75
Inference of domain-disease associations from domain-protein, protein-disease and disease-disease relationships. BMC Syst Biol (2016) 0.75
The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data. Wellcome Open Res (2017) 0.75
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. PLoS One (2017) 0.75
The genetic background of arrhythmogenic right ventricular cardiomyopathy. J Arrhythm (2016) 0.75
Lessons from next-generation sequencing in genetic skeletal disorders. Bonekey Rep (2014) 0.75
METHODS TO ENHANCE THE REPRODUCIBILITY OF PRECISION MEDICINE. Pac Symp Biocomput (2016) 0.75
Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment. PLoS One (2014) 0.75
Digging up the human genome: current progress in deciphering adverse drug reactions. Biomed Res Int (2014) 0.75
Lysosomal diseases: diagnostic update. J Inherit Metab Dis (2014) 0.75
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group. Genet Med (2009) 5.69
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet (2012) 4.45
Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med (2012) 4.04
EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med (2009) 3.57
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med (2012) 3.18
Points to consider in the clinical application of genomic sequencing. Genet Med (2012) 3.03
Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet (2009) 3.01
Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol (2007) 2.95
How best to use CGH arrays in the clinical setting. Genet Med (2009) 2.14
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J Med Genet (2012) 2.09
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. PLoS One (2013) 1.51
One-stop shop for disease genes. Nature (2012) 1.49
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am J Med Genet A (2011) 1.39
Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update. Genet Med (2012) 1.34
Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn (2012) 1.28
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. Am J Med Genet A (2012) 1.24
Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications. J Mol Diagn (2010) 1.04
DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC). Curr Protoc Hum Genet (2006) 0.99
Share alike. Nature (2012) 0.98
Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy. Int J Cardiol (2012) 0.97
Cytogenetic technology--genotype and phenotype. N Engl J Med (2008) 0.96
Enzyme replacement therapy improves cardiac features and severity of Fabry disease. Mol Genet Metab (2012) 0.95
The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease. Expert Opin Biol Ther (2009) 0.93
Targeted sequencing using Affymetrix CustomSeq Arrays. Curr Protoc Hum Genet (2011) 0.93
How doctors think, and how software can help avoid cognitive errors in diagnosis. Acta Paediatr (2007) 0.89
Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements. Hum Mutat (2011) 0.86
A survey of the causes of sudden cardiac death in the under 35-year-age group. Ir Med J (2005) 0.83