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

Article

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Hashim, M. orcid.org/0000-0003-3395-8453, Kennedy, J. et al. (4 more authors) (2025) A cryptic CBFB deletion–inversion expands the mutational spectrum of variants associated with cleidocranial dysplasia. Clinical Genetics, 108 (1). pp. 86-91. ISSN 0009-9163

Aughey, G.N., Cali, E., Maroofian, R. orcid.org/0000-0001-6763-1542 et al. (53 more authors) (2025) Clinical and genetic characterization of a progressive RBL2 associated neurodevelopmental disorder. Brain, 148 (4). pp. 1194-1211. ISSN 0006-8950

Cipriani, V. orcid.org/0000-0002-0839-9955, Vestito, L. orcid.org/0000-0003-0008-936X, Magavern, E.F. orcid.org/0000-0003-0699-6411 et al. (58 more authors) (2025) Rare disease gene association discovery in the 100,000 Genomes Project. Nature. ISSN 0028-0836

Maroofian, R., Sarraf, P., O'Brien, T.J. et al. (30 more authors) (2024) RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147 (7). pp. 2334-2343. ISSN 0006-8950

Maroofian, R. orcid.org/0000-0001-6763-1542, Sarraf, P., O’Brien, T.J. et al. (29 more authors) (2024) RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147 (7). pp. 2334-2343. ISSN 0006-8950

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Yu, J., Walker, S. et al. (65 more authors) (2024) The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. The American Journal of Human Genetics, 111 (6). pp. 1140-1164. ISSN 0002-9297

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, 60 (12). pp. 1235-1244. 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, 104 (1). pp. 121-126. ISSN 0009-9163

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

Saida, K., Maroofian, R., Sengoku, T. et al. (84 more authors) (2023) Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genetics in Medicine, 25 (1). pp. 90-102. ISSN 1098-3600