Kate Pope

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

P. Lockhart, S. Haas, K. Hogan, 2014, American journal of human genetics.

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Peter Nürnberg, Ivan Dikic, Melanie Bahlo, 2014, Nature Genetics.

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

P. Lockhart, Z. Stark, G. McGillivray, 2017, American journal of medical genetics. Part A.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder.

N. Brown, P. Lockhart, I. Scheffer, 2019, Stem cell research.

One-Stage, Limited-Resection Epilepsy Surgery for Bottom-of-Sulcus Dysplasia

Aaron E. L. Warren, G. Jackson, M. Kean, 2021, Neurology.