| review article | Q7318358 |
| scholarly article | Q13442814 |
| P356 | DOI | 10.1159/000450991 |
| P698 | PubMed publication ID | 27898412 |
| P50 | author | David N. Cooper | Q30503192 |
| George P Patrinos | Q52340356 | ||
| P2093 | author name string | Chee-Seng Ku | |
| P2860 | cites work | Genetic diagnosis by whole exome capture and massively parallel DNA sequencing | Q22066282 |
| Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination | Q24336543 | ||
| A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia | Q24337555 | ||
| International network of cancer genome projects | Q24611474 | ||
| Targeted capture and massively parallel sequencing of 12 human exomes | Q24615381 | ||
| Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene | Q24658271 | ||
| Emerging patterns of somatic mutations in cancer | Q27014126 | ||
| Use of whole-genome sequencing to diagnose a cryptic fusion oncogene | Q27851641 | ||
| Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma | Q28241168 | ||
| Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband | Q28244813 | ||
| Germline mutations in shelterin complex genes are associated with familial glioma | Q28253456 | ||
| A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer | Q28261506 | ||
| Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome | Q28262110 | ||
| Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome | Q28262120 | ||
| Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease | Q28301461 | ||
| Discovery and saturation analysis of cancer genes across 21 tumour types | Q28305204 | ||
| Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility | Q28651068 | ||
| Exome sequencing as a tool for Mendelian disease gene discovery | Q29615382 | ||
| Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project | Q30299967 | ||
| Actionable exomic incidental findings in 6503 participants: challenges of variant classification | Q30300875 | ||
| Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction | Q30301147 | ||
| Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis. | Q30373501 | ||
| Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. | Q30401429 | ||
| Autozygosity mapping with exome sequence data | Q30574485 | ||
| Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies | Q30781978 | ||
| Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data | Q30881351 | ||
| Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. | Q33421439 | ||
| Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly | Q33689226 | ||
| PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia | Q33858620 | ||
| Performance comparison of exome DNA sequencing technologies | Q34023426 | ||
| De novo mutations in human genetic disease | Q34288731 | ||
| Sequencing depth and coverage: key considerations in genomic analyses | Q34398440 | ||
| Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. | Q34466932 | ||
| Clinical exome sequencing for genetic identification of rare Mendelian disorders | Q34782655 | ||
| Exome sequencing in undiagnosed inherited and sporadic ataxias | Q35014864 | ||
| Molecular findings among patients referred for clinical whole-exome sequencing | Q35078373 | ||
| Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours | Q35114280 | ||
| Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland | Q35141770 | ||
| Performance comparison of four exome capture systems for deep sequencing | Q35184230 | ||
| Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies | Q35221430 | ||
| Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants | Q35567101 | ||
| Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways | Q35624305 | ||
| New insights into the performance of human whole-exome capture platforms. | Q35770586 | ||
| Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics | Q35832872 | ||
| Comprehensive comparison of three commercial human whole-exome capture platforms | Q35840694 | ||
| The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists | Q35848496 | ||
| Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations | Q35854930 | ||
| Low-frequency coding variants at 6p21.33 and 20q11.21 are associated with lung cancer risk in Chinese populations | Q36061600 | ||
| De novo point mutations in patients diagnosed with ataxic cerebral palsy. | Q36066674 | ||
| Disease-targeted sequencing: a cornerstone in the clinic | Q37205397 | ||
| Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene | Q37218359 | ||
| Revisiting Mendelian disorders through exome sequencing | Q37844489 | ||
| Exome sequencing: dual role as a discovery and diagnostic tool | Q37978583 | ||
| A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease | Q38013966 | ||
| Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders | Q38029472 | ||
| From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease | Q38080441 | ||
| Cancer genome-sequencing study design | Q38099732 | ||
| The promise and challenges of next-generation genome sequencing for clinical care | Q38161772 | ||
| Diagnostic exome sequencing: a new paradigm in neurology | Q38165426 | ||
| Exome sequencing greatly expedites the progressive research of Mendelian diseases | Q38175288 | ||
| The challenge for the next generation of medical geneticists | Q38212582 | ||
| Diagnostic clinical genome and exome sequencing | Q38221192 | ||
| Managing the ethical challenges of next-generation sequencing in genomic medicine | Q38239811 | ||
| Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing | Q38252010 | ||
| Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. | Q38263926 | ||
| Cancer whole-genome sequencing: present and future. | Q38395966 | ||
| Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions | Q38495799 | ||
| Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach | Q40818625 | ||
| Next-generation diagnostics: gene panel, exome, or whole genome? | Q41220493 | ||
| Practical considerations in the clinical application of whole-exome sequencing | Q41441536 | ||
| Whole-genome sequencing of quartet families with autism spectrum disorder | Q41525456 | ||
| Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome | Q41928299 | ||
| Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations | Q46716950 | ||
| Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour. | Q46773237 | ||
| Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. | Q50967429 | ||
| Diagnostic exome sequencing in persons with severe intellectual disability | Q55670486 | ||
| The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. | Q55709354 | ||
| P433 | issue | 6 | |
| P304 | page(s) | 315-324 | |
| P577 | publication date | 2016-11-30 | |
| P1433 | published in | Public Health Genomics | Q15766289 |
| P1476 | title | The Rise and Rise of Exome Sequencing. | |
| P478 | volume | 19 |
| Q49592253 | Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders |
| Q64072007 | Integrating Next-Generation Sequencing in the Clinical Pharmacogenomics Workflow |
| Q52601702 | Recognition of the polycistronic nature of human genes is critical to understanding the genotype-phenotype relationship. |
| Q96303303 | Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length |
| Q91785463 | The mouse curly whiskers (cw) mutations are recessive alleles of hephaestin-like 1 (Hephl1) |
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