Edinburgh Research Explorer

Dr Hemant Bengani

Career Development Fellow

  1. 2018
  2. BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

    Olley, G., Ansari, M., Bengani, H., Grimes, G. R., DDD study, Bickmore, W., Pradeepa, M. M. & FitzPatrick, D., Mar 2018, In : Nature Genetics.

    Research output: Contribution to journalArticle

  3. 2017
  4. Clinical and Molecular Consequences of Disease-Associated De Novo Mutations in SATB2

    UK10K Consortium, DDD study & FitzPatrick, D., 19 Aug 2017, In : Genetics in Medicine.

    Research output: Contribution to journalArticle

  5. Psip1/p52 regulates posterior Hoxa genes through activation of lncRNA Hottip

    Pradeepa, M. M., McKenna, F., Taylor, G., Bengani, H., Grimes, G. R., Wood, A., Bhatia, S. & Bickmore, W., 6 Apr 2017, In : PLoS Genetics.

    Research output: Contribution to journalArticle

  6. Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice

    Davies, F., Hope, J., McLachlan, F., Nunez, F., Doig, J., Bengani, H., Smith, C. & Abbott, C., 5 Apr 2017, In : Scientific Reports. 46019 .

    Research output: Contribution to journalArticle

  7. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

    Shaw, N. D., Brand, H., Kupchinsky, Z. A., Bengani, H., Plummer, L., Jones, T. I., Erdin, S., Williamson, K. A., Rainger, J., Stortchevoi, A., Samocha, K., Currall, B. B., Dunican, D. S., Collins, R. L., Willer, J. R., Lek, A., Lek, M., Nassan, M., Pereira, S., Kammin, T. & 58 othersLucente, D., Silva, A., Seabra, C. M., Chiang, C., An, Y., Ansari, M., Rainger, J. K., Joss, S., Smith, J. C., Lippincott, M. F., Singh, S. S., Patel, N., Jing, J. W., Law, J. R., Ferraro, N., Verloes, A., Rauch, A., Steindl, K., Zweier, M., Scheer, I., Sato, D., Okamoto, N., Jacobsen, C., Tryggestad, J., Chernausek, S., Schimmenti, L. A., Brasseur, B., Cesaretti, C., García-Ortiz, J. E., Buitrago, T. P., Silva, O. P., Hoffman, J. D., Mühlbauer, W., Ruprecht, K. W., Loeys, B. L., Shino, M., Kaindl, A. M., Cho, C-H., Morton, C. C., Meehan, R. R., van Heyningen, V., Liao, E. C., Balasubramanian, R., Hall, J. E., Seminara, S. B., Macarthur, D., Moore, S. A., Yoshiura, K-I., Gusella, J. F., Marsh, J. A., Graham, J. M., Lin, A. E., Katsanis, N., Jones, P. L., Crowley, W. F., Davis, E. E., FitzPatrick, D. R. & Talkowski, M. E., Feb 2017, In : Nature Genetics. 49

    Research output: Contribution to journalArticle

  8. 2016
  9. Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability

    DDD study & Abbott, C., Jul 2016, In : Molecular Genetics & Genomic Medicine.

    Research output: Contribution to journalArticle

  10. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant Negative Effect

    Rainger, J., DDD Study, Van Heyningen, V., Marsh, J., Elmslie, F. & FitzPatrick, D., 21 Apr 2016, In : American Journal of Human Genetics. 98, 5, p. 981-992

    Research output: Contribution to journalArticle

  11. 2015
  12. Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome

    Naville, M., Ishibashi, M., Ferg, M., Bengani, H., Rinkwitz, S., Krecsmarik, M., Hawkins, T. A., Wilson, S. W., Manning, E., Chilamakuri, C. S. R., Wilson, D. I., Louis, A., Raymond, F. L., Rastegar, S., Straehle, U., Lenhard, B., Bally-Cuif, L., van Heyningen, V., FitzPatrick, D. R., Becker, T. S. & 1 othersCrollius, H. R., 24 Apr 2015, In : Nature Communications. 6, 9 p., 6904.

    Research output: Contribution to journalArticle

  13. 2014
  14. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

    Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, S., Hennekam, R. C. M., Lampe, A. K., Redeker, E., Homfray, T., Ross, A., Falkenberg Smeland, M., Mansour, S., Parker, M. J., Cook, J. A., Splitt, M. & 55 othersFisher, R. B., Fryer, A., Magee, A. C., Wilkie, A., Barnicoat, A., Brady, A. F., Cooper, N. S., Mercer, C., Deshpande, C., Bennett, C. P., Pilz, D. T., Ruddy, D., Cilliers, D., Johnson, D. S., Josifova, D., Rosser, E., Thompson, E. M., Wakeling, E., Kinning, E., Stewart, F., Flinter, F., Girisha, K. M., Cox, H., Firth, H. V., Kingston, H., Wee, J. S., Hurst, J. A., Clayton-Smith, J., Tolmie, J., Vogt, J., Tatton-Brown, K., Chandler, K., Prescott, K., Wilson, L., Behnam, M., McEntagart, M., Davidson, R., Lynch, S-A., Sisodiya, S., Mehta, S. G., McKee, S. A., Mohammed, S., Holden, S., Park, S-M., Holder, S. E., Harrison, V., McConnell, V., Lam, W. K., Green, A. J., Donnai, D., Bitner-Glindzicz, M., Donnelly, D. E., Nellåker, C., Taylor, M. S. & FitzPatrick, D. R., 14 Aug 2014, In : Journal of Medical Genetics. 51, 10, p. 659-668

    Research output: Contribution to journalArticle

  15. Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

    Rainger, J., Pehlivan, D., Johansson, S., Bengani, H., Sanchez-Pulido, L., Williamson, K. A., Ture, M., Barker, H., Rosendahl, K., Spranger, J., Horn, D., Meynert, A., Floyd, J. A. B., Prescott, T., Anderson, C. A., Rainger, J. K., Karaca, E., Gonzaga-Jauregui, C., Jhangiani, S., Muzny, D. M. & 16 othersSeawright, A., Soares, D. C., Kharbanda, M., Murday, V., Finch, A., Gibbs, R. A., van Heyningen, V., Taylor, M. S., Yakut, T., Knappskog, P. M., Hurles, M. E., Ponting, C., Lupski, J. R., Houge, G., FitzPatrick, D. R. & UK10K, 5 Jun 2014, In : American Journal of Human Genetics. 94, 6, p. 915-23 9 p.

    Research output: Contribution to journalArticle

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