C. A. Bennett

发表

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Colin A. Ellis, M. Daly, I. Scheffer, 2020, Brain : a journal of neurology.

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

I. Scheffer, D. Gill, K. Howell, 2022, Developmental medicine and child neurology.

ExACtly zero or once A clinically helpful guide to assessing genetic variants in mild epilepsies

S. Berkovic, S. Petrovski, K. Oliver, 2022 .

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy

I. Scheffer, S. Berkovic, M. Bahlo, 2022, Brain : a journal of neurology.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Michael R. Johnson, S. Gabriel, M. Daly, 2019, bioRxiv.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

P. Lockhart, I. Scheffer, J. Motelow, 2022, Human molecular genetics.

ExACtly zero or once

S. Berkovic, S. Petrovski, K. Oliver, 2017, Neurology: Genetics.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Ethan M. Goldberg, Andreas M. Koupparis, W. C. Stewart, 2023, Nature Genetics.