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Article

Best, S, Yu, J, Lord, J et al. (17 more authors) (2022) Uncovering the burden of hidden ciliopathies in the 100,000 Genomes Project: a reverse phenotyping approach. Journal of Medical Genetics. ISSN 0022-2593 (In Press)

Best, S, Lord, J, Roche, M et al. (13 more authors) (2021) Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project. Journal of Medical Genetics. ISSN 0022-2593

Wright, C.F., Quaife, N.M., Ramos-Hernández, L. et al. (31 more authors) (2021) Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. American Journal of Human Genetics, 108 (6). pp. 1083-1094. ISSN 0002-9297

Poulter, JA, Gravett, MSC orcid.org/0000-0001-8351-7176, Taylor, RL et al. (26 more authors) (2021) New variants and in silico analyses in GRK1 associated Oguchi disease. Human Mutation, 42 (2). humu.24140. pp. 164-176. ISSN 1059-7794

Vig, A, Poulter, JA orcid.org/0000-0003-2048-5693, Ottaviani, D et al. (28 more authors) (2020) DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genetics in Medicine. ISSN 1098-3600

Cuvertino, S, Hartill, V, Colyer, A et al. (32 more authors) (2020) A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genetics in Medicine, 22 (5). pp. 867-877. ISSN 1098-3600

Pleguezuelos-Manzano, C, Puschhof, J, Rosendahl Huber, A et al. (25 more authors) (2020) Mutational signature in colorectal cancer caused by genotoxic pks⁺ E. coli. Nature, 580 (7802). pp. 269-273. ISSN 0028-0836

This list was generated on Sat Jul 2 21:14:55 2022 BST.