Prof Susan White
Clinical (Professor)
Department of Paediatrics
216 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes
DOI: 10.1016/j.isci.2026.1154542026
Journal article
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
DOI: 10.1212/WNL.00000000002146452026
Journal article
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
DOI: 10.1002/ajmg.a.643032026
Journal article
Functional Characterization of a Novel GPC3 Missense Variant in Simpson–Golabi–Behmel Syndrome
DOI: 10.1002/ajmg.a.642872026
Journal article
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
DOI: 10.1016/j.ajhg.2026.03.0032025
Journal article
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
DOI: 10.1038/s41525-025-00474-82025
Journal article
ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape
DOI: 10.1016/j.ejmg.2025.105048
RECENT SCHOLARLY WORKS
2025
Journal article
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines
DOI: 10.1038/s41431-025-01910-02025
Journal article
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot
DOI: 10.1212/NXG.00000000002002912025
Journal article
PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue
DOI: 10.1016/j.isci.2025.113110