Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics by Lee, Maaike, Allard, William G., Bollen, Sander, Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Kriek, Marjolein, Guchelaar, Henk‐Jan, Anvar, Seyed Y., Swen, Jesse J.

Get full text

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype by Menke, Leonie A., van Belzen, Martine J., Alders, Marielle, Cristofoli, Francesca, Ehmke, Nadja, Fergelot, Patricia, Foster, Alison, Gerkes, Erica H., Hoffer, Mariëtte J. V., Horn, Denise, Kant, Sarina G., Lacombe, Didier, Leon, Eyby, Maas, Saskia M., Melis, Daniela, Muto, Valentina, Park, Soo-Mi, Peeters, Hilde, Peters, Dorien J. M., Pfundt, Rolph, van Ravenswaaij-Arts, Conny M. A., Tartaglia, Marco, Hennekam, Raoul C. M.

Get full text

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects by van Nisselrooij, Amber E L, Lugthart, Malou A, Clur, Sally-Ann, Linskens, Ingeborg H, Pajkrt, Eva, Rammeloo, Lukas A, Rozendaal, Lieke, Blom, Nico A, van Lith, Jan M M, Knegt, Alida C, Hoffer, Mariëtte J V, Aten, Emmelien, Santen, Gijs W E, Haak, Monique C

Get full text

Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome? by Sun, Yu, Ruivenkamp, Claudia A.L., Hoffer, Mariëtte J.V., Vrijenhoek, Terry, Kriek, Marjolein, van Asperen, Christi J., den Dunnen, Johan T., Santen, Gijs W.E.

Get full text

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt by Pelgrims, Elise, Lynch, Sally Ann, Hannes, Laurens, Hoffer, Mariëtte J. V., Melotte, Cindy, Van Haeringen, Arie, Swillen, Ann, Breckpot, Jeroen

Get full text

Single Molecule Sequencing of Free DNA from Maternal Plasma for Noninvasive Trisomy 21 Detection by VAN DEN OEVER, Jessica M. E, BALKASSMI, Sahila, BOON, Elles M. J, JOANNE VERWEIJ, E, ITERSON, Maarten Van, ADAMA VAN SCHELTEMA, Phebe N, OEPKES, Dick, VAN LITH, Jan M. M, HOFFER, Mariëtte J. V, DEN DUNNEN, Johan T, BAKKER, Egbert

Get full text

The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study by Eggenhuizen, Geerke M., Go, Attie T. J. I., Sauter, Zoë, Hoffer, Mariëtte J. V., Haak, Monique C., Geeven, Geert, Diderich, Karin E. M., Joosten, Marieke, Born, Myrthe, Srebniak, Malgorzata I., Opstal, Diane

Get full text

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants by Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariëtte J. V., Van der Ven, Amelie, Thiele, Holger, Altmüller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K., Lessel, Davor

Get full text

The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes by Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K. M., Rooney, Kathleen, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M., Vissers, Lisenka E. L. M., de Vries, Bert B. A., Pfundt, Rolph, Elting, Mariet W., van Hagen, Johanna M., Verbeek, Nienke E., Jongmans, Marjolijn C. J., Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G. M., Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E., Ounap, Katrin, Hoffer, Mariëtte J. V., Nezarati, Marjan M., van den Boogaard, Marie-José H., Tedder, Matthew L., Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B., Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J., Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A. M., Stuurman, Kyra E., Mannens, Marcel M. A. M., Alders, Mariëlle, Henneman, Peter, White, Susan M., Sadikovic, Bekim, van Haelst, Mieke M.

Get full text

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders by Sollis, Elliot, Deriziotis, Pelagia, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi, Hoffer, Mariëtte J.V., Ruivenkamp, Claudia A.L., Alders, Mariëlle, Okamoto, Nobuhiko, Bijlsma, Emilia K., Plomp, Astrid S., Fisher, Simon E.

Get full text

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major by Harteveld, Cornelis L., Refaldi, Chiara, Giambona, Antonino, Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Pijpe, Jeroen, De Knijff, Peter, Borgna-Pignatti, Caterina, Maggio, Aurelio, Cappellini, Maria D., Giordano, Piero C.

Get full text

Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus by Traeger‐Synodinos, Joanne, Bosch, Cathy A. J., Vrettou, Christina, Maragoudaki, Lena, Apostolidis, Janos, Kanavakis, Emmanuel, Kattamis, Christos, Arkesteijn, Sandra G. J., Hoffer, Mariëtte J. V., Ruivenkamp, Claudia A. L., Harteveld, Cornelis L.

Get full text

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies by Khan, Saadullah, Ullah, Imran, Nasir, Abdul, Meijer, C. Arnoud, Laurense-Bik, Marlies, den Dunnen, Johan T., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Santen, Gijs W. E., Ahmad, Wasim

Get full text

From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care by 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

Get full text

Successful noninvasive trisomy 18 detection using single molecule sequencing by van den Oever, Jessica M E, Balkassmi, Sahila, Johansson, Lennart F, Adama van Scheltema, Phebe N, Suijkerbuijk, Ron F, Hoffer, Mariëtte J V, Sinke, Richard J, Bakker, Egbert, Sikkema-Raddatz, Birgit, Boon, Elles M J

Get full text

Prenatal exome sequencing: A useful tool for the fetal neurologist by Koning, Maayke A., Hoffer, Mariëtte J. V., Nibbeling, Esther A. R., Bijlsma, Emilia K., Toirkens, Menno J. P., Adama‐Scheltema, Phebe N., Verweij, E. Joanne, Veenhof, Marieke B., Santen, Gijs W. E., Peeters‐Scholte, Cacha M. P. C. D.

Get full text

A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome by Ilie, Alina, Gao, Andy Y.L., Boucher, Annie, Park, Jaeok, Berghuis, Albert M., Hoffer, Mariëtte J.V., Hilhorst-Hofstee, Yvonne, McKinney, R. Anne, Orlowski, John

Get full text

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency by Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R., Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J., Schnur, Rhonda E., Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J., Masser-Frye, Diane, Bird, Lynne M., Lindstrom, Kristin, Ramsey, Keri M., Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G., Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H., Klein Wassink-Ruiter, Jolien S., Bijlsma, Emilia, Hoffer, Mariëtte, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A., Machol, Keren, Scott, Daryl A., Bacino, Carlos A., Wang, Xia, Clark, Gary D., Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H., Akay, Ela, Chang, Richard C., Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E., Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W., Lefebvre, Véronique, Clark, Karl J., Depienne, Christel

Get full text

Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13 by 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.

Get full text

Copy number variants in patients with short stature by van Duyvenvoorde, Hermine A, Lui, Julian C, Kant, Sarina G, Oostdijk, Wilma, Gijsbers, Antoinet C J, Hoffer, Mariëtte J V, Karperien, Marcel, Walenkamp, Marie J E, Noordam, Cees, Voorhoeve, Paul G, Mericq, Verónica, Pereira, Alberto M, Claahsen-van de Grinten, Hedi L, van Gool, Sandy A, Breuning, Martijn H, Losekoot, Monique, Baron, Jeffrey, Ruivenkamp, Claudia A L, Wit, Jan M

Get full text