scholarly article | Q13442814 |
P356 | DOI | 10.1038/S41436-019-0731-7 |
P698 | PubMed publication ID | 31911674 |
P50 | author | Nancy C Rose | Q92480888 |
P2093 | author name string | Priya Prasad | |
Kristin G Monaghan | |||
Natalia T Leach | |||
Dawn Pekarek | |||
ACMG Professional Practice and Guidelines Committee | |||
P2860 | cites work | Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy | Q90344883 |
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study | Q91321674 | ||
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing | Q29616235 | ||
ACMG clinical laboratory standards for next-generation sequencing | Q33903280 | ||
Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
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 | Q34544874 | ||
Promises, pitfalls and practicalities of prenatal whole exome sequencing | Q34558273 | ||
Clinical exome sequencing for genetic identification of rare Mendelian disorders | Q34782655 | ||
Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes. | Q35749677 | ||
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings | Q35776062 | ||
Chromosomal microarray versus karyotyping for prenatal diagnosis | Q36546668 | ||
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders | Q37496956 | ||
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing | Q38074825 | ||
Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis | Q38091392 | ||
Ethics of prenatal ultrasound | Q38174385 | ||
Managing the ethical challenges of next-generation sequencing in genomic medicine | Q38239811 | ||
Clinical application of whole-exome sequencing across clinical indications | Q41075733 | ||
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource | Q44763269 | ||
Ultrasonographically detectable markers of fetal chromosomal abnormalities | Q44938554 | ||
Points to consider for informed consent for genome/exome sequencing. | Q45908845 | ||
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges | Q47131952 | ||
Joint Position Statement from the International Society of Prenatal Diagnosis (ISPD), the Society of Maternal Fetal Medicine (SMFM) and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis | Q48521413 | ||
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. | Q52622713 | ||
A Retrospective Study of Cytogenetic Results From Amniotic Fluid in 5328 Fetuses With Abnormal Obstetric Sonographic Findings. | Q53282580 | ||
Committee Opinion No.682: Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology. | Q54428442 | ||
Ethical and Counseling Challenges in Prenatal Exome Sequencing | Q56517284 | ||
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study | Q64108553 | ||
P433 | issue | 4 | |
P921 | main subject | genomics | Q222046 |
medical genetics | Q1071953 | ||
P304 | page(s) | 675-680 | |
P577 | publication date | 2020-01-08 | |
P1433 | published in | Genetics in Medicine | Q15765508 |
P1476 | title | The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG) | |
P478 | volume | 22 |
Q89866364 | Genetic diagnosis in the fetus |
Q101216931 | Whole exome sequencing of fetal structural anomalies detected by ultrasonography |
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