Items where authors include "Sabir, A.H."

Article

Chaurasia, A., Shukla, A., Pande, S. et al. (23 more authors) (2026) Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders. European Journal of Human Genetics, 34. pp. 1059-1069. ISSN 1018-4813

Quinodoz, M., Rodenburg, K., Cvackova, Z. et al. (185 more authors) (2026) De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. Nature Genetics, 58. pp. 169-179. ISSN 1061-4036

Sabir, A.H., Morley, E., Sheikh, J. et al. (11 more authors) (2021) Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era. BMC Medical Genomics, 14 (1). 148.