Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect
出版年份 2020 全文链接
标题
Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect
作者
关键词
-
出版物
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
Volume 58, Issue 3, Pages 377-387
出版商
Wiley
发表日期
2020-11-04
DOI
10.1002/uog.23532
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)
- (2020) Kristin G. Monaghan et al. GENETICS IN MEDICINE
- Prenatal exome sequencing in fetuses with congenital heart defects
- (2020) Ru Li et al. CLINICAL GENETICS
- The prevalence of genetic diagnoses in fetuses with severe congenital heart defects
- (2020) Amber E. L. van Nisselrooij et al. GENETICS IN MEDICINE
- COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE Study): prospective cohort study and systematic review
- (2020) F. Mone et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
- (2019) Slavé Petrovski et al. LANCET
- Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
- (2019) Jenny Lord et al. LANCET
- From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care
- (2019) Maayke A. de Koning et al. GENETICS IN MEDICINE
- Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing
- (2019) Dominik S. Westphal et al. CLINICAL GENETICS
- Systematic analysis of copy‐number variations associated with early pregnancy loss
- (2019) Yan Wang et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- The contribution of single‐gene defects to congenital cardiac left‐sided lesions in the prenatal setting
- (2019) Hairui Sun et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study
- (2018) Yan Wang et al. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
- Importance of complete phenotyping in prenatal whole exome sequencing
- (2018) Mahmoud Aarabi et al. HUMAN GENETICS
- Fetal exome sequencing: yield and limitations in a single tertiary center
- (2018) Hagit Daum et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect
- (2018) P. Hu et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities
- (2018) F. Fu et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
- (2018) Elizabeth A. Normand et al. Genome Medicine
- Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
- (2018) Gordon K C Leung et al. BMC Medical Genomics
- Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges
- (2017) Neeta L Vora et al. GENETICS IN MEDICINE
- Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development
- (2017) Carin L Yates et al. GENETICS IN MEDICINE
- Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
- (2017) Sarah Boissel et al. GENETICS IN MEDICINE
- Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
- (2017) Sheng Chih Jin et al. NATURE GENETICS
- Perinatal outcomes and congenital heart defect prognosis in 53313 non-selected perinatal infants
- (2017) Donghua Xie et al. PLoS One
- Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing
- (2017) Karen L. Stals et al. PRENATAL DIAGNOSIS
- Fetal right aortic arch: associated anomalies, genetic anomalies with chromosomal microarray analysis, and postnatal outcome
- (2017) Ruan Peng et al. PRENATAL DIAGNOSIS
- Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease
- (2016) Stephanie LaHaye et al. Circulation-Cardiovascular Genetics
- Congenital valvular defects associated with deleterious mutations in the PLD1 gene
- (2016) Asaf Ta-Shma et al. JOURNAL OF MEDICAL GENETICS
- Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
- (2016) Alejandro Sifrim et al. NATURE GENETICS
- Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing
- (2016) Xiangyu Zhu et al. PRENATAL DIAGNOSIS
- Clinical aspects of prenatally detected congenital heart malformations and the yield of chromosomal microarray analysis
- (2016) Rivka Sukenik-Halevy et al. PRENATAL DIAGNOSIS
- Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease
- (2016) Stephanie LaHaye et al. Circulation-Cardiovascular Genetics
- Genetics and Genetic Testing in Congenital Heart Disease
- (2015) Jason R. Cowan et al. CLINICS IN PERINATOLOGY
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice
- (2015) Lauren E. Westerfield et al. PRENATAL DIAGNOSIS
- Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
- (2015) Suzanne Drury et al. PRENATAL DIAGNOSIS
- Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening
- (2015) Richard S. Olney et al. SEMINARS IN PERINATOLOGY
- Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysis
- (2015) F. A. R. Jansen et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- Detection of submicroscopic chromosomal aberrations by array-based comparative genomic hybridization in fetuses with congenital heart disease
- (2013) Y. Yan et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: A retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization
- (2011) Brandon M Shearer et al. GENETICS IN MEDICINE
- American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
- (2011) Hutton M Kearney et al. GENETICS IN MEDICINE
- GATA transcription factors integrate Wnt signalling during heart development
- (2008) B. A. Afouda et al. DEVELOPMENT
- The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders
- (2008) Yoko Aoki et al. HUMAN MUTATION
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