From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care

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

Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies

(2018) M. Rasmussen et al.   CLINICAL GENETICS

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

(2018) Caroline F Wright et al.   GENETICS IN MEDICINE

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

(2018) Natalie Chandler et al.   GENETICS IN MEDICINE

Importance of complete phenotyping in prenatal whole exome sequencing

(2018) Mahmoud Aarabi et al.   HUMAN GENETICS

Ethical considerations in prenatal testing: Genomic testing and medical uncertainty

(2018) Anastasia Richardson et al.   Seminars in Fetal & Neonatal Medicine

Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities

(2018) F. Fu et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Cancer Risks for PMS2-Associated Lynch Syndrome

(2018) Sanne W. ten Broeke et al.   JOURNAL OF CLINICAL ONCOLOGY

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

Putting genome-wide sequencing in neonates into perspective

(2018) Pleuntje J. van der Sluijs et al.   GENETICS IN MEDICINE

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

Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract

(2017) Ting-ying Lei et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing

(2017) Ruth Horn et al.   PRENATAL DIAGNOSIS

Promises, pitfalls and practicalities of prenatal whole exome sequencing

(2017) Sunayna Best et al.   PRENATAL DIAGNOSIS

First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects

(2016) Constantinos Pangalos et al.   PeerJ

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

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Annual Summary of Vital Statistics: 2012-2013

(2015) M. J. K. Osterman et al.   PEDIATRICS

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

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

(2015) Christina L. Alamillo et al.   PRENATAL DIAGNOSIS

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

(2014) K. J. Carss et al.   HUMAN MOLECULAR GENETICS

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

(2013) Jonathan L. A. Callaway et al.   PRENATAL DIAGNOSIS

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

(2009) Erich Roessler et al.   HUMAN MUTATION