Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

(2018) Emily C. Oates et al.   ANNALS OF NEUROLOGY

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy

(2018) Katherine B. Howell et al.   EPILEPSIA

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

(2018) Hadley Stevens Smith et al.   GENETICS IN MEDICINE

Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis

(2018) Zöe Powis et al.   GENETICS IN MEDICINE

Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease

(2018) Danton S Char et al.   GENETICS IN MEDICINE

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

(2018) Zornitza Stark et al.   GENETICS IN MEDICINE

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

Clinical genome sequencing in an unbiased pediatric cohort

(2018) Isabelle Thiffault et al.   GENETICS IN MEDICINE

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

(2018) Clare Turnbull et al.   BMJ-British Medical Journal

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

(2018) Clare Turnbull et al.   BMJ-British Medical Journal

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

(2018) Lauge Farnaes et al.   npj Genomic Medicine

Biallelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

(2018) Charlotte L. Alston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

(2018) Lamia Mestek-Boukhibar et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations in regulatory elements in neurodevelopmental disorders

(2018) Patrick J. Short et al.   NATURE

Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy

(2018) Betsy E. P. Ostrander et al.   npj Genomic Medicine

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

(2017) Lisenka E.L.M. Vissers et al.   GENETICS IN MEDICINE

Detection of long repeat expansions from PCR-free whole-genome sequence data

(2017) Egor Dolzhenko et al.   GENOME RESEARCH

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Newborn Sequencing in Genomic Medicine and Public Health

(2017) Jonathan S. Berg et al.   PEDIATRICS

Use of Exome Sequencing for Infants in Intensive Care Units

(2017) Linyan Meng et al.   JAMA Pediatrics

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

(2017) Tiong Yang Tan et al.   JAMA Pediatrics

Is “incidental finding” the best term?: a study of patients’ preferences

(2016) Nina Tan et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

(2014) Claudia Calabrese et al.   BIOINFORMATICS