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

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

Human exposure to environmental contaminants and congenital anomalies: a critical review

(2016) Warren G. Foster et al.   CRITICAL REVIEWS IN TOXICOLOGY

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

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Sequence Variant Interpretation 2.0: Perspective on New Guidelines for Sequence Variant Classification

(2015) S. Chen et al.   CLINICAL CHEMISTRY

Research participants in NGS studies want to know about incidental findings

(2015) Anne Marie Jelsig et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

(2015) Suzanne Drury et al.   PRENATAL DIAGNOSIS

Stem cell transplantation before birth - a realistic option for treatment of osteogenesis imperfecta?

(2015) Magnus Westgren et al.   PRENATAL DIAGNOSIS

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

(2015) Lyn S. Chitty 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

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling

(2014) Lacey A. Smith et al.   Journal of Genetic Counseling

Implementation of high-resolution SNP arrays in the investigation of fetuses with ultrasound malformations: 5 years of clinical experience

(2013) C. Liao et al.   CLINICAL GENETICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Next-Generation Sequencing for Clinical Diagnostics

(2013) Howard J. Jacob   NEW ENGLAND JOURNAL OF MEDICINE

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis

(2013) S. C. Hillman et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

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

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

(2009) Gurdeep S Sagoo et al.   GENETICS IN MEDICINE