A. Lakey

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

A. Need, M. Bleda, L. Moutsianas, 2022, Nature Communications.

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

A. Need, J. Clayton-Smith, I. MacDonald, 2022, Nature Communications.

The genomic landscape of familial glioma

A. Need, R. Gibbs, E. Boerwinkle, 2023, Science advances.

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

A. Need, C. Rivolta, M. Bleda, 2022, npj Genomic Medicine.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

A. Need, J. Annereau, M. Bleda, 2023, Scientific reports.

A novel likely pathogenic CLCN5 variant in Dent’s disease

A. Need, M. Bleda, L. Moutsianas, 2023, BMC Nephrology.