| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | Christine M Eng | |
| Ignatia B van den Veyver | |||
| P2860 | cites work | Human genome sequencing in health and disease | Q22065433 |
| XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing | Q24632796 | ||
| Disease gene identification strategies for exome sequencing | Q26866283 | ||
| Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center | Q27007785 | ||
| Kif14 mutation causes severe brain malformation and hypomyelination | Q27321348 | ||
| Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers | Q28267331 | ||
| Prenatal Diagnosis of Fetal RhD Status by Molecular Analysis of Maternal Plasma | Q28314918 | ||
| Next-generation DNA sequencing | Q29547447 | ||
| Exome sequencing as a tool for Mendelian disease gene discovery | Q29615382 | ||
| A systematic survey of loss-of-function variants in human protein-coding genes | Q29615756 | ||
| ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing | Q29616235 | ||
| Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results | Q30408185 | ||
| Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. | Q30580167 | ||
| Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients | Q30591763 | ||
| Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing. | Q33600262 | ||
| Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound | Q33649327 | ||
| Personal genome research : what should the participant be told? | Q33844668 | ||
| ACMG clinical laboratory standards for next-generation sequencing | Q33903280 | ||
| FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project | Q34000906 | ||
| Next-generation sequencing identifies rare variants associated with Noonan syndrome | Q34025431 | ||
| Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics | Q34161654 | ||
| Non-invasive prenatal measurement of the fetal genome | Q34286073 | ||
| Recent advances in the prenatal interrogation of the human fetal genome | Q34312211 | ||
| Clinical diagnosis by whole-genome sequencing of a prenatal sample | Q34315784 | ||
| Mandatory extended searches in all genome sequencing: "incidental findings," patient autonomy, and shared decision making | Q34361977 | ||
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
| Genome sequencing identifies major causes of severe intellectual disability | Q34422838 | ||
| Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel | Q34551175 | ||
| New approaches to molecular diagnosis | Q34661074 | ||
| Clinical exome sequencing for genetic identification of rare Mendelian disorders | Q34782655 | ||
| Targeted routine antenatal anti-D prophylaxis in the prevention of RhD immunisation--outcome of a new antenatal screening and prevention program | Q34936608 | ||
| Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium | Q35033000 | ||
| Molecular findings among patients referred for clinical whole-exome sequencing | Q35078373 | ||
| Next-generation sequencing demands next-generation phenotyping | Q35892539 | ||
| Noninvasive whole-genome sequencing of a human fetus. | Q36048523 | ||
| Using whole-exome sequencing to identify variants inherited from mosaic parents | Q36338167 | ||
| Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing | Q36451454 | ||
| An informatics approach to analyzing the incidentalome | Q36514318 | ||
| Chromosomal microarray versus karyotyping for prenatal diagnosis | Q36546668 | ||
| Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma | Q36595101 | ||
| Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? | Q36787475 | ||
| Point-counterpoint. Patient autonomy and incidental findings in clinical genomics | Q37040336 | ||
| The indispensable role of professional judgment in genomic medicine | Q37141317 | ||
| Management of incidental findings in clinical genomic sequencing | Q37148891 | ||
| Point-counterpoint. Ethics and genomic incidental findings | Q37169821 | ||
| Returning genetic research results: study type matters | Q37198193 | ||
| Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals | Q37205132 | ||
| Actionable, pathogenic incidental findings in 1,000 participants' exomes | Q37217044 | ||
| Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing | Q37537037 | ||
| Diagnosis of Noonan syndrome and related disorders using target next generation sequencing | Q37558643 | ||
| Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline | Q37579830 | ||
| Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional | Q37658374 | ||
| Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel | Q37678322 | ||
| Informed consent for return of incidental findings in genomic research | Q37722733 | ||
| Copy number and SNP arrays in clinical diagnostics | Q37908126 | ||
| Whole exome and whole genome sequencing | Q37924548 | ||
| Unlocking Mendelian disease using exome sequencing | Q37932636 | ||
| Increased nuchal translucency in the presence of normal chromosomes: what's next? | Q37978739 | ||
| Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments | Q37992016 | ||
| Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis | Q38091392 | ||
| The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made | Q38099617 | ||
| Incidental findings from clinical genome-wide sequencing: a review | Q38109552 | ||
| Integration of genomics into medical practice | Q38162535 | ||
| Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes | Q38232194 | ||
| Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines. | Q38232212 | ||
| 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 | ||
| Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board | Q39276157 | ||
| Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. | Q41931303 | ||
| The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling | Q43176707 | ||
| Use of cffDNA to avoid administration of anti-D to pregnant women when the fetus is RhD-negative: implementation in the NHS. | Q43476137 | ||
| Secondary variants--in defense of a more fitting term in the incidental findings debate. | Q43555478 | ||
| Incidental findings in trauma patients: dedicated communication with the primary care physician ensures adequate follow-up | Q45891369 | ||
| Clinical whole-exome sequencing: are we there yet? | Q46467159 | ||
| Managing incidental findings: lessons from neuroimaging | Q48303267 | ||
| Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study | Q48647246 | ||
| Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar | Q48923695 | ||
| The usefulness of whole-exome sequencing in routine clinical practice. | Q50657606 | ||
| Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. | Q50750814 | ||
| Diagnostic accuracy of noninvasive fetal Rh genotyping from maternal blood--a meta-analysis. | Q53597278 | ||
| Diagnostic exome sequencing in persons with severe intellectual disability | Q55670486 | ||
| Non-invasive prenatal diagnosis for single gene disorders: experience of patients | Q56266931 | ||
| Current controversies in prenatal diagnosis 2: should incidental findings arising from prenatal testing always be reported to patients? | Q56771480 | ||
| Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus | Q56937251 | ||
| Presence of fetal DNA in maternal plasma and serum | Q57075132 | ||
| Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families | Q57161336 | ||
| “I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing | Q57386647 | ||
| Attitudes of parents toward the return of targeted and incidental genomic research findings in children | Q57642631 | ||
| Genetic Diagnosis through Whole-Exome Sequencing | Q57782384 | ||
| Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time | Q57785176 | ||
| Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service | Q58028956 | ||
| Targeted next generation sequencing as a diagnostic tool in epileptic disorders | Q84182666 | ||
| Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing | Q87011448 | ||
| The growing role of professional societies in educating clinicians in genomics | Q87246634 | ||
| Prenatal exome sequencing for fetuses with structural abnormalities: the next step | Q87662199 | ||
| Diagnostic clinical genome and exome sequencing | Q95515418 | ||
| P433 | issue | 10 | |
| P577 | publication date | 2015-08-07 | |
| P1433 | published in | Cold Spring Harbor Perspectives in Medicine | Q21042440 |
| P1476 | title | Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders | |
| P478 | volume | 5 |
| Q91570297 | Accuracy of in-utero MRI to detect fetal brain abnormalities and prognosticate developmental outcome: postnatal follow-up of the MERIDIAN cohort |
| Q60306589 | Development of a rapid functional assay that predicts GLUT1 disease severity |
| Q92712637 | Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families |
| Q57790364 | Genetic Approaches to Metabolic Bone Diseases |
| Q89961817 | Is preparation a good reason for prenatal genetic testing? Ethical and critical questions |
| Q57180804 | Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies |
| Q50063427 | Nervous System Malformations |
| Q64987436 | Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. |
| Q47312945 | Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly |
| Q47131952 | Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges |
| Q28071888 | Recent advances in prenatal genetic screening and testing |
| Q91079086 | Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations |
| Q36064361 | VarElect: the phenotype-based variation prioritizer of the GeneCards Suite |
| Q38673804 | Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders |
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