Paul J. Lockhart

Advancing molecular, phenotypic and mechanistic insights of FGF14 pathogenic expansions (SCA27B)

S. Klebe, U. Roggenbuck, S. Pechlivanis, 2024, medRxiv.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, American journal of human genetics.

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

M. Fichera, S. Girirajan, C. Bénéteau, 2023, American journal of human genetics.

Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II

Aaron E. L. Warren, P. Lockhart, J. Yang, 2022, Epilepsia.

Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies

R. Leventer, Daniz Kooshavar, Paulo Pinares-Garcia, 2024, Neurology. Genetics.

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

P. Lockhart, A. Harvey, H. Adle-Biassette, 2021, Annals of clinical and translational neurology.