A. J. Blakes

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

D. Baralle, N. S. Thomas, A. Ruiz, 2022, medRxiv.

A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy

S. Banka, J. English, A. J. M. Blakes, 2021, American journal of medical genetics. Part A.

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

S. Robertson, D. Baralle, R. Heller, 2020, European Journal of Human Genetics.

Title 1 Pathogenic variants causing ABL 1 malformation syndrome cluster in a myristoyl-2 binding pocket and increase tyrosine kinase activity 3 4 Running title 5 ABL 1 pathogenic variants 6

S. Robertson, D. Baralle, R. Heller, 2020 .

Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants

D. Baralle, N. Whiffin, J. Rankin, 2023, medRxiv.

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

Stephan J Sanders, D. Baralle, N. Whiffin, 2023, medRxiv.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

C. Shaw-Smith, P. Clouston, T. Dabir, 2023, Movement disorders : official journal of the Movement Disorder Society.

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

D. Baralle, N. S. Thomas, N. Whiffin, 2022, Genome Medicine.