Items where authors include "Mehta, S.G."
Article
Elkhateeb, N. orcid.org/0000-0002-3076-3178, Crookes, R., Spiller, M. et al. (68 more authors) (2025) Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. Genetics in Medicine, 27 (3). 101348. ISSN 1098-3600
Pagnamenta, A.T., Yu, J., Evans, J. et al. (7 more authors) (2023) Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1. Journal of Medical Genetics, 60 (5). pp. 505-510. ISSN 0022-2593
Bownass, L., Abbs, S., Armstrong, R. et al. (24 more authors) (2019) PAPSS2‐related brachyolmia : clinical and radiological phenotype in 18 new cases. American Journal of Medical Genetics Part A, 179 (9). pp. 1884-1894. ISSN 1552-4825
Martin, H.C., Jones, W.D., McIntyre, R. et al. (37 more authors) (2018) Quantifying the contribution of recessive coding variation to developmental disorders. Science, 362 (6419). pp. 1161-1164. ISSN 0036-8075