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

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

The 100 000 Genomes Project: What it means for paediatrics

(2016) Blanche H Griffin et al.   Archives of Disease in Childhood-Education and Practice Edition

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives

(2016) Elizabeth Quinlan-Jones et al.   PRENATAL DIAGNOSIS

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

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

Can We Afford to Sequence Every Newborn Baby's Genome?

(2015) Jacques S. Beckmann   HUMAN MUTATION

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

(2015) Caroline F Wright et al.   LANCET

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

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

Clinical utility of fetal autopsy and its impact on genetic counseling

(2015) Shalini S. Nayak et al.   PRENATAL DIAGNOSIS

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

(2015) Suzanne Drury et al.   PRENATAL DIAGNOSIS

Prenatal whole-exome sequencing: parental attitudes

(2015) Eve J. Kalynchuk 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

Epidemiology of multiple congenital anomalies in Europe: A EUROCAT population-based registry study

(2014) Elisa Calzolari et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Exome Sequencing in Fetuses with Structural Malformations

(2014) Fiona Mackie et al.   Journal of Clinical Medicine

Non-invasive prenatal diagnosis for single gene disorders: experience of patients

(2013) C. Lewis 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

Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities

(2012) Francesco Fiorentino et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exploring concordance and discordance for return of incidental findings from clinical sequencing

(2012) Robert C. Green et al.   GENETICS IN MEDICINE