Items where authors include "Madhusudhan, S."

Article

Fassad, M.R., Vasudevan, P.C., Barwell, J. et al. (9 more authors) (2026) Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism. npj Genomic Medicine. ISSN 2056-7944

Best, S., Yu, J., Lord, J. orcid.org/0000-0002-0539-9343 et al. (16 more authors) (2022) Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of Medical Genetics, 59. pp. 1151-1164. ISSN 0022-2593