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2025
Application of family whole-exome sequencing for prenatal diagnosis—an analysis of 357 cases
Frontiers in Medicine
2025
Incremental yield of prenatal exome sequencing in fetuses with skeletal system abnormalities: A systematic review and meta‐analysis
Acta Obstetricia et Gynecologica Scandinavica
2024
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1
Journal of Human Genetics
2023
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype
Prenatal Diagnosis
2023
Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis
American Journal of Obstetrics & Gynecology MFM
2023
Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions
Genetics in Medicine Open
2023
Human Reproductive and Prenatal Genetics
2022
Parental Hopes and Understandings of the Value of Prenatal Diagnostic Genomic Sequencing: A Qualitative Analysis
Frontiers in Genetics
2022
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts
Genetics in Medicine
2022
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis
Prenatal Diagnosis
2022
Prenatal Genetic Counseling
2022
2022 6th International Conference on Electronics, Communication and Aerospace Technology
2022
Utility of expanded carrier screening in pregnancies with ultrasound abnormalities
Prenatal Diagnosis
2022
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis
Diagnostics
2022
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility
Minerva Endocrinology
2022
Citogenética prenatal
EMC - Ginecología-Obstetricia
2022
A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies
Prenatal Diagnosis
2021
The prenatal exome – a door to prenatal diagnostics?
Expert Review of Molecular Diagnostics
2021
Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies
European Journal of Medical Genetics
2021
Exploring the predicted yield of prenatal testing by evaluating a postnatal population with structural abnormalities using a novel mathematical model
Prenatal Diagnosis
2021
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
Acta Obstetricia et Gynecologica Scandinavica
2021
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis
Journal of Clinical Medicine
2021
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations
Journal of Medical Genetics
2021
Genetic Disorders and the Fetus
2021
The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting
Prenatal Diagnosis
2021
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review
Diagnostics
2020
Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly
Journal of Human Genetics
2020
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging
Prenatal Diagnosis
2020
Trio‐whole‐exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations
Human Mutation
2020
The Promise of Whole-exome Sequencing for Prenatal Genetic Diagnosis
Current Pharmacogenomics and Personalized Medicine
2020
Early Sonographic Findings for Suspecting de novo Single-gene Mutation
Donald School Journal of Ultrasound in Obstetrics and Gynecology
2020
Fetal Medicine
2020
Considerations for whole exome sequencing unique to prenatal care
Human Genetics
2019
Whole exome sequencing for prenatal diagnosis in cases with fetal anomalies: Criteria to improve diagnostic yield
Journal of Genetic Counseling
2019
Perinatal Genetics
2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families
Frontiers in Genetics
2019
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
The Lancet
2019
Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation
Science China Life Sciences
2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
The Lancet
2019
Update on the use of exome sequencing in the diagnosis of fetal abnormalities
European Journal of Medical Genetics
2019
Human Reproductive and Prenatal Genetics
2019
RAPID COMMUNICATION: Multi-breed validation study unraveled genomic regions associated with puberty traits segregating across tropically adapted breeds1
Journal of Animal Science
2019
Human Reproductive and Prenatal Genetics
2018
Whole Exome Sequencing
Obstetrics and Gynecology Clinics of North America
2018
Noninvasive Prenatal Testing (NIPT)
2018
The present and future of whole-exome sequencing in studying and treating human reproductive disorders
Journal of Genetics and Genomics
2018
LMOD3‐Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings
Journal of Ultrasound in Medicine
2018
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis
European Journal of Medical Genetics
2018
Whole-exome sequencing in fetuses with central nervous system abnormalities
Journal of Perinatology
2018
Pregnant Genetic Counselors in an Era of Advanced Genomic Tests: What Do the Experts Test Prenatally?
Journal of Genetic Counseling
2018
Promises, pitfalls and practicalities of prenatal whole exome sequencing
Prenatal Diagnosis
2018
Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies
Journal of Obstetrics and Gynaecology Canada
2017
Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound
Prenatal Diagnosis
2017
Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing
PLOS ONE
2017
Prenatal Diagnostic Exome Sequencing: a Review
Current Genetic Medicine Reports
2017
In case you missed it: thePrenatal Diagnosiseditors bring you the most significant advances of 2016
Prenatal Diagnosis
2017
Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly
Prenatal Diagnosis
2017
Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings
Clinical Case Reports
2016
Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing
Prenatal Diagnosis
2016
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
The American Journal of Human Genetics