From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care
de Koning, Maayke A, Haak, Monique C, Adama van Scheltema, Phebe N, Peeters-Scholte, Cacha M P C D, Koopmann, Tamara T, Nibbeling, Esther A R, Aten, Emmelien, den Hollander, Nicolette S, Ruivenkamp, Claudia A L, Hoffer, Mariëtte J V, Santen, Gijs W E
Published in Genetics in medicine (01.10.2019)
Published in Genetics in medicine (01.10.2019)
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Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development
Cisse, Babacar, Caton, Michele L., Lehner, Manfred, Maeda, Takahiro, Scheu, Stefanie, Locksley, Richard, Holmberg, Dan, Zweier, Christiane, den Hollander, Nicolette S., Kant, Sarina G., Holter, Wolfgang, Rauch, Anita, Zhuang, Yuan, Reizis, Boris
Published in Cell (03.10.2008)
Published in Cell (03.10.2008)
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
SANTEN, Gijs W. E, ATEN, Emmelien, WESSELS, Marja W, DEN HOLLANDER, Nicolette S, RUIVENKAMP, Claudia A. L, OMMEN, Gert-Jan B.van, BREUNING, Martijn H, DEN DUNNEN, Johan T, HAERINGEN, Arie Van, KRIEK, Marjolein, YU SUN, ALMOMANI, Rowida, GILISSEN, Christian, NIELSEN, Maartje, KANT, Sarina G, SNOECK, Irina N, PEETERS, Els A. J, HILHORST-HOFSTEE, Yvonne
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction
de Boer, Anneke, Vermeulen, Karlijn, Egger, Jos I M, Janzing, Joost G E, de Leeuw, Nicole, Veenstra-Knol, Hermine E, den Hollander, Nicolette S, van Bokhoven, Hans, Staal, Wouter, Kleefstra, Tjitske
Published in Molecular autism (25.01.2018)
Published in Molecular autism (25.01.2018)
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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
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.
Published in American journal of human genetics (02.06.2022)
Published in American journal of human genetics (02.06.2022)
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
Johnson, Brett V., Alexander, Suzy, Vega, Michelle Sanchez, Domingo, Deepti, Oh, Tracey, Lines, Matthew, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Billette de Villemeur, Thierry, Koolen, David A., Sa, Joaquim, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Goldstein, Amy, Madan-Khetarpal, Suneeta, Sullivan, Jennifer A., Bacino, Carlos A., Baker, Eva, Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Butte, Manish J., Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dhar, Shweta U., Douine, Emilie D., Draper, David D., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Hanchard, Neil A., Jiang, Yong-hui, Karaviti, Lefkothea, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lanpher, Brendan C., LeBlanc, Kimberly, Lee, Brendan H., Liu, Xue Zhong, Marwaha, Shruti, McCauley, Jacob, Morimoto, Marie, Nath, Avi, Nelson, Stan F., Newman, John H., Oglesbee, Devin, Orengo, James P., Pak, Stephen, Parker, Neil H., Phillips, John A., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Schedl, Timothy, Shakachite, Lisa, Sharma, Prashant, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Vogel, Tiphanie P., Wahl, Colleen E., Walsh, Chris A., Wang, Lee-kai, Wangler, Michael F., Worthey, Elizabeth A., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Gahl, William, Sullivan, Jennifer A., Barnett, Sarah S., Perry, M. Scott, Schuette, Jane L., Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Oegema, Renske, Armstrong, Martin, Lin, Angela E., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Mosher, Theresa Mihalic, Tezcan, Kamer, Penzes, Peter, Piper, Michael
Published in Biological psychiatry (1969) (15.01.2020)
Published in Biological psychiatry (1969) (15.01.2020)
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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Clinical and molecular characterization of patients with YWHAG‐related epilepsy
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, Hollander, Nicolette S., Marjanovic, Dragan, Rougeot‐Jung, Christelle, Jung, Julien, Lesieur‐Sebellin, Marion, Accogli, Andrea, Salpietro, Vincenzo, Saadi, Nebal W., Panagiotakaki, Eleni, Foiadelli, Thomas, Redon, Sylvia, Tsai, Meng‐Han, Bisulli, Francesca, Hammer, Trine B., Lupski, James R., Parrini, Elena, Guerrini, Renzo, Alotaibi, Lena, Ambrosetti, Irene, Bellanger, Séverine A., Castellotti, Barbara, Cavallin, Mara, Chan, Joshua C. K., Chatron, Nicolas, Chavany, Julie, Cogne, Benjamin, Fung, Jasmine L. F., Gjerulfsen, Cathrine E., Granata, Tiziana, Guimier, Anne, Herman, Isabella, Ho, Chen‐Jui, Mandorlini, Claudia, Milh, Mathieu, Minardi, Raffaella, Montanari, Francesca, Rosenfeld, Jill A., Moller, Rikke S., Operto, Francesca F., Posey, Jennifer E., Ruivenkamp, Claudia A. L., Sacaze, Elise, Santi, Viola, Savasta, Salvatore, Touraine, Renaud, Tumiene, Birute, Uguen, Kevin, Villard, Laurent
Published in Epilepsia (Copenhagen) (01.05.2024)
Published in Epilepsia (Copenhagen) (01.05.2024)
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Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
Meester, Josephina A.N., Southgate, Laura, Stittrich, Anna-Barbara, Venselaar, Hanka, Beekmans, Sander J.A., den Hollander, Nicolette, Bijlsma, Emilia K., Helderman-van den Enden, Appolonia, Verheij, Joke B.G.M., Glusman, Gustavo, Roach, Jared C., Lehman, Anna, Patel, Millan S., de Vries, Bert B.A., Ruivenkamp, Claudia, Itin, Peter, Prescott, Katrina, Clarke, Sheila, Trembath, Richard, Zenker, Martin, Sukalo, Maja, Van Laer, Lut, Loeys, Bart, Wuyts, Wim
Published in American journal of human genetics (03.09.2015)
Published in American journal of human genetics (03.09.2015)
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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
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.
Published in American journal of human genetics (07.07.2022)
Published in American journal of human genetics (07.07.2022)
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Recurrent duplications of 17q12 associated with variable phenotypes
Mitchell, Elyse, Douglas, Andrew, Kjaegaard, Susanne, Callewaert, Bert, Vanlander, Arnaud, Janssens, Sandra, Yuen, Amy Lawson, Skinner, Cindy, Failla, Pinella, Alberti, Antonino, Avola, Emanuela, Fichera, Marco, Kibaek, Maria, Digilio, Maria C., Hannibal, Mark C., den Hollander, Nicolette S., Bizzarri, Veronica, Renieri, Alessandra, Mencarelli, Maria Antonietta, Fitzgerald, Tomas, Piazzolla, Serena, van Oudenhove, Elke, Romano, Corrado, Schwartz, Charles, Eichler, Evan E., Slavotinek, Anne, Escobar, Luis, Rajan, Diana, Crolla, John, Carter, Nigel, Hodge, Jennelle C., Mefford, Heather C.
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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A Frame-Shift Mutation in the Type I Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Causing Blomstrand Lethal Osteochondrodysplasia
Karperien, Marcel, van der Harten, Hans J, van Schooten, Ron, Farih-Sips, Hetty, den Hollander, Nicolette S, Kneppers, Sander L. J, Nijweide, Peter, Papapoulos, Socrates E, Löwik, Clemens W. G. M
Published in The journal of clinical endocrinology and metabolism (01.10.1999)
Published in The journal of clinical endocrinology and metabolism (01.10.1999)
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Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome
Wessels, Marja W., den Hollander, Nicolette S., Willems, Patrick J.
Published in Prenatal diagnosis (01.03.2003)
Published in Prenatal diagnosis (01.03.2003)
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Correction: Putting genome-wide sequencing in neonates into perspective
van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q.C.M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Kaat, Laura Donker, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D.J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J.V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A.R., Peeters-Scholte, Cacha M.P.C.D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A.L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N.G.B., van der Tuin, Karin, Visser, Remco, van der Werf –’t Lam, Anne-Sophie, Williams, Monique, Witlox, Ruben, Santen, Gijs W.E.
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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A new diagnostic workflow for patients with mental retardation and or multiple congenital abnormalities: test arrays first
GIJSBERS, Antoinet Cj, LEW, Janet Yk, RUIVENKAMP, Claudia Al, BOSCH, Cathy Aj, SCHUURS-HOEIJMAKERS, Janneke Hm, VAN HAERINGEN, Arie, DEN HOLLANDER, Nicolette S, KANT, Sarina G, BIJLSMA, Emilia K, BREUNING, Martijn H, BAKKER, Egbert
Published in European journal of human genetics : EJHG (01.11.2009)
Published in European journal of human genetics : EJHG (01.11.2009)
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Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
Vos, Yvonne J, de Walle, Hermien E K, Bos, Krista K, Stegeman, Jenneke A, ten Berge, Annelies M, Bruining, Martijn, van Maarle, Merel C, Elting, Mariet W, den Hollander, Nicolette S, Hamel, Ben, Fortuna, Ana Maria, Sunde, Lone E M, Stolte-Dijkstra, Irene, Schrander-Stumpel, Connie T R M, Hofstra, Robert M W
Published in Journal of medical genetics (01.03.2010)
Published in Journal of medical genetics (01.03.2010)
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A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma
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
Published in The Journal of molecular diagnostics : JMD (01.09.2015)
Published in The Journal of molecular diagnostics : JMD (01.09.2015)
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CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis
VAN DIJK, Fleur S, NESBITT, Isabel M, TAN-SINDHUNATA, Gita Mb, VAN RIJN, Rick R, MEIJERS-HEIJBOER, Hanne, COBBEN, Jan M, PALS, Gerard, NIKKELS, Peter Gj, DALTON, Ann, BONGERS, Ernie Mhf, VAN DE KAMP, Jiddeke M, HILHORST-HOFSTEE, Yvonne, DEN HOLLANDER, Nicolette S, LACHMEIJER, Augusta Ma, MARCELIS, Carlo L
Published in European journal of human genetics : EJHG (01.12.2009)
Published in European journal of human genetics : EJHG (01.12.2009)
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Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13
Tan, Ratna N. G. B., Witlox, Ruben S. G. M., Hilhorst-Hofstee, Yvonne, Peeters-Scholte, Cacha M. P. C. D., den Hollander, Nicolette S., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J.V., Hansson, Kerstin B., van Roosmalen, Mark J., Kloosterman, Wigard P., Santen, Gijs W. E.
Published in American journal of medical genetics. Part A (01.08.2015)
Published in American journal of medical genetics. Part A (01.08.2015)
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Split hand‐foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion—evidence for further heterogeneity?
Aten, Emmelien, den Hollander, Nicolette, Ruivenkamp, Claudia, Knijnenburg, Jeroen, van Bokhoven, Hans, den Dunnen, Johan, Breuning, Martijn
Published in American journal of medical genetics. Part A (01.05.2009)
Published in American journal of medical genetics. Part A (01.05.2009)
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