Shehla Mohammed

2020

Whole-genome sequencing of patients with rare diseases in a national health system

NIHR BioResource for the 100,000 Genomes Project, Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., Stephens, J., Mapeta, R., Burren, O. S., Downes, K., Haimel, M., Tuna, S., Deevi, S. V. V., Aitman, T. J. & Bennett, D. L. & 31 others, Calleja, P., Carss, K., Caulfield, M. J., Chinnery, P. F., Dixon, P. H., Gale, D. P., James, R., Koziell, A., Laffan, M. A., Levine, A. P., Maher, E. R., Markus, H. S., Morales, J., Morrell, N. W., Mumford, A. D., Ormondroyd, E., Rankin, S., Rendon, A., Richardson, S., Bennett, D. L., Bueser, T., Carr-White, G., Flinter, F. A., Irving, M., Josifova, D., Koziell, A., Mohammed, S. N., Thomas, E., Traylor, M., Trembath, R. & Williamson, C., 2 Jul 2020, In: Nature. 583, 7814, p. 96-102 7 p.

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319 Citations (Scopus)

1919 Downloads (Pure)

2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Kaiser, F. J., Ansari, M., Braunholz, D., Gil-Rodriguez, M. C., Decroos, C., Wilde, J. J., Fincher, C. T., Kaur, M., Bando, M., Amor, D. J., Atwal, P. S., Bahlo, M., Bowman, C. M., Bradley, J. J., Brunner, H. G., Clark, D., Del Campo, M., Di Donato, N., Diakumis, P. & Dubbs, H. & 32 others, Dyment, D. A., Eckhold, J., Ernst, S., Ferreira, J. C., Francey, L. J., Gehlken, U., Guillen-Navarro, E., Gyftodimou, Y., Hall, B. D., Hennekam, R., Hudgins, L., Hullings, M., Hunter, J. M., Yntema, H., Innes, A. M., Kline, A. D., Krumina, Z., Lee, H., Leppig, K., Lynch, S. A., Mallozzi, M. B., Mannini, L., Mckee, S., Mehta, S. G., Micule, I., Mohammed , S., Moran, E., Mortier, G. R., Moser, J.-A. S., Noon, S. E., CareRare Canada Consortium & Univ Washington Ctr Mendelian Geno, 1 Jun 2014, In: Human Molecular Genetics. 23, 11, p. 2888-2900 13 p.

Research output: Contribution to journal › Article › peer-review

119 Citations (Scopus)

2013

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., Koerner, C., Hoffmann, G. F., Wijburg, F. A., ten Hoedt, A. E., Rogers, R. C., Manchester, D., Miyata, R. & Hayashi, M. & 17 others, Said, E., Soler, D., Kroisel, P. M., Windpassinger, C., Filloux, F. M., Al-Kaabi, S., Hertecant, J., Del Campo, M., Buk, S., Bodi, I., Goebel, H.-H., Sewry, C. A., Abbs, S., Mohammed , S., Josifova, D., Gautel, M. & Jungbluth, H., Jan 2013, In: Nature Genetics. 45, 1, p. 83-87 5 p.

Research output: Contribution to journal › Article › peer-review

210 Citations (Scopus)

Shehla Mohammed

Research output

Search results

Whole-genome sequencing of patients with rare diseases in a national health system

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy