Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing

por Bachmann-Gagescu, R, Dempsey, J, Phelps, IG, Isabella, C, O'Day, D, O'Roak, B, Shendure, J, Glass, I, Doherty, D
Publicado no Cilia (2015)

Orientation-dependent Dxz4 contacts shape the 3D structure of the inactive X chromosome

por Bonora, G., Deng, X., Fang, H., Ramani, V., Qiu, R., Berletch, J. B., Filippova, G. N., Duan, Z., Shendure, J., Noble, W. S., Disteche, C. M.
Publicado no Nat Commun (2018)

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

por O'Roak, B. J., Stessman, H. A., Boyle, E. A., Witherspoon, K. T., Martin, B., Lee, C., Vives, L., Baker, C., Hiatt, J. B., Nickerson, D. A., Bernier, R., Shendure, J., Eichler, E. E.
Publicado no Nat Commun (2014)

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families

por Ahmad, F., Ansar, M., Mehmood, S., Izoduwa, A., Lee, K., Nasir, A., Abrar, M., Mehmood, S., Ullah, A., Aziz, A., Smith, J.D., Shendure, J., Bamshad, M.J., Nicekrson, D.A., Santos-Cortez, R.L.P., Leal, S.M., Ahmad, W.
Publicado no J Eur Acad Dermatol Venereol (2015)

Guidelines for investigating causality of sequence variants in human disease

por MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., Barrett, J. C., Biesecker, L. G., Conrad, D. F., Cooper, G. M., Cox, N. J., Daly, M. J., Gerstein, M. B., Goldstein, D. B., Hirschhorn, J. N., Leal, S. M., Pennacchio, L. A., Stamatoyannopoulos, J. A., Sunyaev, S. R., Valle, D., Voight, B. F., Winckler, W., Gunter, C.
Publicado em 2014