International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis

Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generation sequencing

(2022) Linbei Deng et al.   CLINICA CHIMICA ACTA

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

(2021) David T. Miller et al.   GENETICS IN MEDICINE

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

(2021) David T. Miller et al.   GENETICS IN MEDICINE

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

(2021) R Mellis et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Molecular autopsy by proxy in preconception counseling

(2021) Malak Ali Alghamdi et al.   CLINICAL GENETICS

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

(2021) Kandamurugu Manickam et al.   GENETICS IN MEDICINE

The clinical utility of exome and genome sequencing across clinical indications: a systematic review

(2021) Salma Shickh et al.   HUMAN GENETICS

Diagnostic yield of exome sequencing in fetuses with an isolated increased nuchal translucency: systematic review and meta‐analysis

(2021) M. Pauta et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis

(2021) Montse Pauta et al.   Journal of Clinical Medicine

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

(2020) Jennifer Malinowski et al.   GENETICS IN MEDICINE

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

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

(2019) Stephen F. Kingsmore et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis

(2018) et al.   PRENATAL DIAGNOSIS

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

(2018) Michelle M. Clark et al.   npj Genomic Medicine

Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics

(2017) ACMG Board of Directors   GENETICS IN MEDICINE

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing

(2017) Karen L. Stals et al.   PRENATAL DIAGNOSIS

Promises, pitfalls and practicalities of prenatal whole exome sequencing

(2017) Sunayna Best et al.   PRENATAL DIAGNOSIS

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