Research graph
References from Whole Genomes, Clearer Diagnoses—Precision Care for Children With Neurologic Disease. Local targets link to admitted publications; unresolved targets remain external evidence.
Rapid whole-genome sequencing in pediatric neurology inpatients.
External reference
Genetic testing for diagnosing neurodevelopmental disorders and epilepsy: a systematic review and meta-analysis.
10.1186/s13643-025-02896-y · 2025 · External reference
Genetic evaluation of the child with intellectual disability or global developmental delay: clinical report.
10.1542/peds.2025-072219 · 2025 · External reference
Diagnostic yield of genome sequencing versus exome sequencing in pediatric patients with rare phenotypes: a systematic review and meta-analysis.
10.1002/ajmg.a.64146 · 2025 · External reference
Molecular diagnostic yield of exome sequencing and genome sequencing in critical ill neonates and infants: a systematic review and meta-analysis.
10.1016/j.gim.2026.102627 · 2026 · External reference
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
10.1016/s1474-4422(23)00246-6 · 2023 · External reference
Project Baby Bear: rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care.
10.1016/j.ajhg.2021.05.008 · 2021 · External reference
‘It’s a nightmare’: informed consent in paediatric genome-wide sequencing. a qualitative expert interview study from Germany and Switzerland.
10.1038/s41431-023-01468-9 · 2023 · External reference
Psychosocial effect of newborn genomic sequencing on families in the BabySeq Project: a randomized clinical trial.
10.1001/jamapediatrics.2021.2829 · 2021 · External reference
Association of social determinants of health with genetic test request and completion rates in children with neurologic disorders.
10.1212/wnl.0000000000210275 · 2025 · External reference
From genomic diagnosis to personalized RNA medicine: advances in next-generation sequencing and n-of-1 antisense oligonucleotide therapies for rare genetic diseases.
10.3390/genes17030318 · 2026 · External reference
Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathy.
10.1038/s41591-026-04527-y · 2026 · External reference
