From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs

Neonatal screening for congenital metabolic and endocrine disorders

(2021) Anja Lüders et al.   Deutsches Arzteblatt International

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes

(2021) Gregory McInnes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

(2021) Monica H. Wojcik et al.   GENETICS IN MEDICINE

Genomic newborn screening: Proposal of a two‐stage approach

(2021) Christian P. Schaaf et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Personal utility of genomic sequencing for infants with congenital deafness

(2021) Erin Tutty et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project

(2021) Stacey Pereira et al.   JAMA Pediatrics

The role of exome sequencing in newborn screening for inborn errors of metabolism

(2020) Aashish N. Adhikari et al.   NATURE MEDICINE

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

(2020) Roland Posset et al.   MOLECULAR GENETICS AND METABOLISM

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

(2019) Ozge Ceyhan-Birsoy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ethical and Psychosocial Issues in Whole Genome Sequencing (WGS) for Newborns

(2019) John D. Lantos   PEDIATRICS

Secondary findings from next-generation sequencing: what does actionable in childhood really mean?

(2018) Julie Richer et al.   GENETICS IN MEDICINE

Evaluating parents’ decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol

(2018) Laura V. Milko et al.   Trials

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

(2018) Casie A. Genetti et al.   GENETICS IN MEDICINE

A curated gene list for reporting results of newborn genomic sequencing

(2017) Ozge Ceyhan-Birsoy et al.   GENETICS IN MEDICINE

Newborn Sequencing in Genomic Medicine and Public Health

(2017) Jonathan S. Berg et al.   PEDIATRICS

Ethical issues in pediatric genetic testing and screening

(2016) Jeffrey R. Botkin   CURRENT OPINION IN PEDIATRICS

The psychological impact of genetic information on children: a systematic review

(2016) Claire E. Wakefield et al.   GENETICS IN MEDICINE

Global trends on fears and concerns of genetic discrimination: a systematic literature review

(2016) Annet Wauters et al.   JOURNAL OF HUMAN GENETICS

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

(2015) Jeffrey R. Botkin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes

(2015) Heidi Carmen Howard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

(2015) Laurel K Willig et al.   Lancet Respiratory Medicine

A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document

(2013) Martina C Cornel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Technical report: ethical and policy issues in genetic testing and screening of children

(2013) Laine Friedman Ross et al.   GENETICS IN MEDICINE

Ethical and Policy Issues in Genetic Testing and Screening of Children

(2013) et al.   PEDIATRICS

Ethics and Genomic Incidental Findings

(2013) A. L. McGuire et al.   SCIENCE

The Human Genome Organisation: towards next-generation ethics

(2013) Bartha Knoppers et al.   Genome Medicine

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

(2012) Leslie G. Biesecker   GENETICS IN MEDICINE

Psychological Effects of False-Positive Results in Expanded Newborn Screening in China

(2012) Wen-Jun Tu et al.   PLoS One

Genetic testing in asymptomatic minors

(2009) Pascal Borry et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics

(2009)   EUROPEAN JOURNAL OF HUMAN GENETICS