Items where authors include "Lahiri, N."

Article

Copeland, H., Low, K.J., Wynn, S.L. et al. (89 more authors) (2024) Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders. Genetics in Medicine Open, 2. 101864. ISSN 2949-7744

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

Piña-Aguilar, R., Simpson, S.A., Alshatti, A. et al. (17 more authors) (2019) 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. Genetics in Medicine, 21 (7). pp. 1639-1643. ISSN 1098-3600

Quarrell, O.W., Clarke, A.J., Compton, C. et al. (14 more authors) (2018) Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 177 (1). pp. 35-39. ISSN 1552-4841

Giunta, C., Baumann, M., Fauth, C. et al. (27 more authors) (2018) A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genetics in Medicine, 20 (1). pp. 42-54. ISSN 1098-3600

Preprint

Copeland, H., Low, K.J., Wynn, S. et al. (89 more authors) (2023) Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders. [Preprint] (Submitted)