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

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

(2017) Robin Z. Hayeems et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

(2017) Anath C Lionel et al.   GENETICS IN MEDICINE

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

(2017) Zornitza Stark et al.   GENETICS IN MEDICINE

Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research

(2017) Kathryn A. Phillips et al.   GENETICS IN MEDICINE

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

(2016) Hussein Daoud et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

(2016) Zornitza Stark et al.   GENETICS IN MEDICINE

Megacystis microcolon intestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management

(2016) Kevin M. Wymer et al.   JOURNAL OF PEDIATRIC SURGERY

A descriptive report of end-of-life care practices occurring in two neonatal intensive care units

(2016) Vanessa Lam et al.   PALLIATIVE MEDICINE

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

(2016) Charuta Joshi et al.   Biomed Research International

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

(2016) Dimitri J Stavropoulos et al.   npj Genomic Medicine

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

Early and effective treatment ofKCNQ2encephalopathy

(2015) Tiziana Pisano et al.   EPILEPSIA

Rapid whole genome sequencing and precision neonatology

(2015) Joshua E. Petrikin et al.   SEMINARS IN PERINATOLOGY

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

Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation

(2013) Mitsuhiro Kato et al.   EPILEPSIA

KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response

(2013) A. L. Numis et al.   NEUROLOGY

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

(2013) Mathieu Milh et al.   Orphanet Journal of Rare Diseases

Withdrawal of life-support in paediatric intensive care - a study of time intervals between discussion, decision and death

(2011) Felix Oberender et al.   BMC Pediatrics

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH

Cisapride Improves Enteral Tolerance in Pediatric Short-bowel Syndrome With Dysmotility

(2011) Bram P Raphael et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION