Yu-Chi Liu

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

G. Carvill, I. Scheffer, H. Mefford, 2019, Human Mutation.

Evaluation of non‐coding variation in GLUT1 deficiency

I. Scheffer, S. Berkovic, M. Bahlo, 2016, Developmental medicine and child neurology.

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

I. Scheffer, M. Mackay, S. Berkovic, 2019, Epilepsia open.

A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene

Hui Huang, Yu-Chi Liu, Yang Shen, 2023, Frontiers in Pediatrics.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.