J. Pavaine

Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP

J. Clayton-Smith, S. Banka, Sarah E. Sheppard, 2019, American journal of medical genetics. Part A.

Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

A. Broomfield, P. Hensman, J. Fletcher, 2018, JIMD reports.

Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study

P. Grant, D. Evans, D. Seidenwurm, 2020, The Lancet Child & Adolescent Health.

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

S. Lovell, Y. Crow, J. Coxhead, 2019, Science Immunology.

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

Holger Prokisch, Robert W. Taylor, Langping He, 2019, American journal of human genetics.

Imaging of Spinal CSF Disorders: Syringomyelia

D. Thompson, J. Pavaine, 2019, Clinical Neuroradiology.

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

P. Striano, R. Møller, E. Gardella, 2021, Seizure.

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

S. Banka, J. Bierau, L. Bowden, 2022, American journal of medical genetics. Part A.

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.

F. V. van Spronsen, J. Pavaine, Alistair Horman, 2024, Journal of inherited metabolic disease.