Items where authors include "Pagnamenta, A.T."

Article

Moore, A.R. orcid.org/0009-0007-9595-7786, Yu, J., Pei, Y. et al. (15 more authors) (2023) Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project. Journal of Medical Genetics. ISSN 0022-2593

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Belles, R.S., Salbert, B.A. et al. (21 more authors) (2023) The prevalence and phenotypic range associated with biallelic PKDCC variants. Clinical Genetics. ISSN 0009-9163

Pagnamenta, A.T., Yu, J., Evans, J. et al. (7 more authors) (2022) Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1. Journal of Medical Genetics. ISSN 0022-2593