Katherine B Howell

16PUBLICATIONS

124CO-AUTHORS

Other European languagesEvolutionary computationInfant and child healthNeurogeneticsLabour, migration and development

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Publications (16)

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|Jul 03, 2026

Late-onset epileptic spasms: presentation, aetiology and outcome.

|Jun 24, 2026

Automated reanalysis of genomic data for rare disease diagnostics at scale.

|May 04, 2026

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

|Feb 13, 2026

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Jimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham

|Feb 05, 2026

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.

Marsha Tan, Beatrice Southby Goad, Meagan Allen

|Jul 22, 2025

Development and Adaptive Function in Individuals With <i>SCN2A</i>-Related Disorders.

Beatrice Southby Goad, Jill Rodda, Meagan Allen

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Frequent Collaborators

Ingrid Scheffer

Richard Leventer

Emma Macdonald-Laurs

Paul J Lockhart

Zornitza Stark

John Christodoulou

Rikke Steensbjerre Møller

3 joint publications

Annapurna Poduri

3 joint publications

Matthew Coleman

2 joint publications

Samuel F Berkovic

Frequent Collaborators

Ingrid Scheffer

Richard Leventer

Emma Macdonald-Laurs

Paul J Lockhart