Prof Susan White
Honorary Clinical Professor
Department of Paediatrics
219 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
An economic evaluation of functional genomic testing for individuals with undiagnosed rare disorders
DOI: 10.1016/j.gim.2026.1027172026
Journal article
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies
DOI: 10.1001/jamaneurol.2026.10212026
Journal article
A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3
DOI: 10.1007/s00401-026-03017-22026
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
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
DOI: 10.1016/j.ajhg.2026.03.0032026
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.64303
RECENT SCHOLARLY WORKS
2026
Journal article
Functional Characterization of a Novel GPC3 Missense Variant in Simpson–Golabi–Behmel Syndrome
DOI: 10.1002/ajmg.a.642872025
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