Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Autor: Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Morsy, Heba, Benkirane, Mehdi, Cali, Elisa, Rocca, Clarissa, Zhelcheska, Kristina, Cipriani, Valentina, Galanaki, Evangelia, Maroofian, Reza, Efthymiou, Stephanie, Murphy, David, O’Driscoll, Mary, Suri, Mohnish, Banka, Siddharth, Clayton-Smith, Jill, Wright, Thomas, Redman, Melody, Bassetti, Jennifer A., Nizon, Mathilde, Cogne, Benjamin, Jamra, Rami Abu, Bartolomaeus, Tobias, Heruth, Marion, Krey, Ilona, Gburek-Augustat, Janina, Wieczorek, Dagmar, Gattermann, Felix, Mcentagart, Meriel, Goldenberg, Alice, Guyant-Marechal, Lucie, Garcia-Moreno, Hector, Giunti, Paola, Chabrol, Brigitte, Bacrot, Severine, Buissonnière, Roger, Magry, Virginie, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Melegh, Béla, Szabó, András, Sümegi, Katalin, Cossée, Mireille, Ziff, Monica, Butterfield, Russell, Hunt, David, Bird-Lieberman, Georgina, Hanna, Michael, Koenig, Michel, Stankewich, Michael, Vandrovcova, Jana, Houlden, Henry

Publikováno v: In Genetics in Medicine January 2023 25(1):76-89

Ixazomib with lenalidomide and dexamethasone for patients with relapsed multiple myeloma: impact of 17p deletion and sensitivity to proteasome inhibitors from a real world data-set.

Autor: Ziff, Monica¹ (AUTHOR), Lawson, Gabrielle¹ (AUTHOR), De-Silva, Dunnya¹ (AUTHOR), Cheesman, Simon¹ (AUTHOR), Kyriakou, Charalampia¹ (AUTHOR), Mahmood, Shameem¹ (AUTHOR), Papanikolaou, Xenofon¹ (AUTHOR), Rabin, Neil¹ (AUTHOR), Sachchithananthan, Sajitha¹ (AUTHOR), Sive, Jonathan¹ (AUTHOR), Wechalekar, Ashutosh¹ (AUTHOR), Yong, Kwee¹ (AUTHOR), Popat, Rakesh¹ (AUTHOR)

Publikováno v: Leukemia & Lymphoma. May2021, Vol. 62 Issue 5, p1243-1246. 4p.

A collaborative genetic carrier screening model for the British Ashkenazi Jewish community.

Autor: Ziff, Monica, Harris, Juliette

Publikováno v: Journal of Community Genetics; Feb2022, Vol. 13 Issue 1, p133-135, 3p

Real World Use of Ixazomib With Lenalidomide and Dexamethasone for Patients With Relapsed Multiple Myeloma

Autor: Lawson, Gabrielle, Ziff, Monica, De-silva, Dunnya, Cheesman, Simon, Kyriakou, Charalampia, Mehta, Atul, Mahmood, Shameem, Papanikolaou, Xenofon, Rabin, Neil, Sachchithanantham, Sajitha, Sive, Jonathan, Wechalekar, Ashutosh, Yong, Kwee, Popat, Rakesh

Publikováno v: In Clinical Lymphoma, Myeloma and Leukemia October 2019 19(10) Supplement:e264-e264