Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Autor: van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., Galjaard, Robert-Jan H.

Publikováno v: In The American Journal of Human Genetics 2 June 2022 109(6):1140-1152

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Autor: van der Meij, Karuna R.M., Sistermans, Erik A., Macville, Merryn V.E., Stevens, Servi J.C., Bax, Caroline J., Bekker, Mireille N., Bilardo, Caterina M., Boon, Elles M.J., Boter, Marjan, Diderich, Karin E.M., de Die-Smulders, Christine E.M., Duin, Leonie K., Faas, Brigitte H.W., Feenstra, Ilse, Haak, Monique C., Hoffer, Mariëtte J.V., den Hollander, Nicolette S., Hollink, Iris H.I.M., Jehee, Fernanda S., Knapen, Maarten F.C.M., Kooper, Angelique J.A., van Langen, Irene M., Lichtenbelt, Klaske D., Linskens, Ingeborg H., van Maarle, Merel C., Oepkes, Dick, Pieters, Mijntje J., Schuring-Blom, G. Heleen, Sikkel, Esther, Sikkema-Raddatz, Birgit, Smeets, Dominique F.C.M., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Ven, A. Jeanine E.M., van Zelderen-Bhola, Shama L., Henneman, Lidewij, Galjaard, Robert-Jan H., Van Opstal, Diane, Weiss, Marjan M.

Publikováno v: In The American Journal of Human Genetics 5 December 2019 105(6):1091-1101

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Autor: van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F.J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W.Y., Chung, Brain H.Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M.S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N.M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A.L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C.E.H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P.A., Stumpel, Constance T.R.M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B.A., Clayton-Smith, Jill, Santen, Gijs W.E.

Publikováno v: In Genetics in Medicine June 2019 21(6):1295-1307

Clinical and molecular characterization of patients with YWHAG‐related epilepsy.

Autor: Cetica, Valentina, Pisano, Tiziana, Lesca, Gaetan, Marafi, Dana, Licchetta, Laura, Riccardi, Florence, Mei, Davide, Chung, Hon‐yin B., Bayat, Allan, Balasubramanian, Meena, Lowenstein, Daniel H., Endzinienė, Milda, Alotaibi, Maha, Villeneuve, Nathalie, Jacobs, Julia, Isidor, Bertrand, Solazzi, Roberta, den Hollander, Nicolette S., Marjanovic, Dragan, Rougeot‐Jung, Christelle

Publikováno v: Epilepsia (Series 4); May2024, Vol. 65 Issue 5, p1439-1450, 12p

A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma

Autor: van den Oever, Jessica M.E., van Minderhout, Ivonne J.H.M., Harteveld, Cornelis L., den Hollander, Nicolette S., Bakker, Egbert, van der Stoep, Nienke, Boon, Elles M.J.

Publikováno v: In The Journal of Molecular Diagnostics September 2015 17(5):590-596