Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder

Tekijä Harper, Callista B., Mancini, Grazia M.S., van Slegtenhorst, Marjon, Cousin, Michael A.
Julkaisussa Neurobiol Dis (2017)

Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report

Tekijä Eleftheriadou, Maria, Medici‐ van den Herik, Evita, Stuurman, Kyra, van Bever, Yolande, Hellebrekers, Debby M. E. I., van Slegtenhorst, Marjon, Ruijter, George, Barakat, Tahsin Stefan
Julkaisussa Mol Genet Genomic Med (2021)

The Slow Axonal Transport of the Microtubule-Associated Protein Tau and the Transport Rates of Different Isoforms and Mutants in Cultured Neurons

Tekijä Utton, Michelle A., Connell, James, Asuni, Ayodeji A., van Slegtenhorst, Marjon, Hutton, Michael, de Silva, Rohan, Lees, Andrew J., Miller, Chris C. J., Anderton, Brian H.
Julkaisussa J Neurosci (2002)

Recruitment of trimeric eIF2 by phosphatase non-catalytic subunit PPP1R15B

Tekijä Fatalska, Agnieszka, Hodgson, George, Freund, Stefan M.V., Maslen, Sarah L., Morgan, Tomos, Thorkelsson, Sigurdur R., van Slegtenhorst, Marjon, Lorenz, Sonja, Andreeva, Antonina, Kaat, Laura Donker, Bertolotti, Anne
Julkaisussa Mol Cell (2024)

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia

Tekijä Smits, Daphne J., Schot, Rachel, Wilke, Martina, van Slegtenhorst, Marjon, de Wit, Marie Claire Y., Dremmen, Marjolein H.G., Dobyns, William B., Barkovich, A. James, Mancini, Grazia M.S.
Julkaisussa Neurol Genet (2021)

Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

Tekijä Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, van Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta
Julkaisussa Mol Genet Genomic Med (2020)

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Tekijä Mattioli, Francesca, Schaefer, Elise, Magee, Alex, Mark, Paul, Mancini, Grazia M., Dieterich, Klaus, Von Allmen, Gretchen, Alders, Marielle, Coutton, Charles, van Slegtenhorst, Marjon, Vieville, Gaëlle, Engelen, Mark, Cobben, Jan Maarten, Juusola, Jane, Pujol, Aurora, Mandel, Jean-Louis, Piton, Amélie
Julkaisussa Am J Hum Genet (2017)

Variants in DOCK3 cause developmental delay and hypotonia

Tekijä Wiltrout, Kimberly, Ferrer, Alejandro, van de Laar, Ingrid, Namekata, Kazuhiko, Harada, Takayuki, Klee, Eric W., Zimmerman, Michael T., Cousin, Margot A., Kempainen, Jennifer L., Babovic-Vuksanovic, Dusica, van Slegtenhorst, Marjon A., Aarts-Tesselaar, Coranne D., Schnur, Rhonda E., Andrews, Marisa, Shinawi, Marwan
Julkaisussa Eur J Hum Genet (2019)

Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features

Tekijä Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L.I., Terhal, P.A., Verhoeven, Virginie J.M., van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., Chung, Wendy K.
Julkaisussa Neurogenetics (2016)

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Tekijä Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., Naidu, Sakkubai, van Slegtenhorst, Marjon, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Guella, Ilaria, McKenzie, Marna B., Datta, Anita, Connolly, Mary B., Kalkhoran, Somayeh Mojard, Poburko, Damon, Friedman, Jan M., Farrer, Matthew J., Demos, Michelle, Desai, Sonal, Claydon, Thomas
Julkaisussa Am J Hum Genet (2017)

A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study

Tekijä Den Boer, Monique L., van Slegtenhorst, Marjon, De Menezes, Renée X., Cheok, Meyling H., Buijs-Gladdines, Jessica G.C.A.M., Peters, Susan T.C.J.M., Van Zutven, Laura J.C.M., Beverloo, H. Berna, Van der Spek, Peter J., Escherich, Gaby, Horstmann, Martin A., Janka-Schaub, Gritta E., Kamps, Willem A., Evans, William E., Pieters, Rob
Julkaistu 2009

Human mutations in integrator complex subunits link transcriptome integrity to brain development

Tekijä Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M., Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A. Jeannette M., Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H., van Slegtenhorst, Marjon, Dobyns, William B., de Coo, Irenaeus F. M., Verheijen, Frans W., Kremer, Andreas, van der Spek, Peter J., Heijsman, Daphne, Wagner, Eric J., Fornerod, Maarten, Mancini, Grazia M. S.
Julkaisussa PLoS Genet (2017)

Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

Tekijä van Schie, Janne J. M., Faramarz, Atiq, Balk, Jesper A., Stewart, Grant S., Cantelli, Erika, Oostra, Anneke B., Rooimans, Martin A., Parish, Joanna L., de Almeida Estéves, Cynthia, Dumic, Katja, Barisic, Ingeborg, Diderich, Karin E. M., van Slegtenhorst, Marjon A., Mahtab, Mohammad, Pisani, Francesca M., te Riele, Hein, Ameziane, Najim, Wolthuis, Rob M. F., de Lange, Job
Julkaisussa Nat Commun (2020)

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development

Tekijä Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M., Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A. Jeannette M., Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H., van Slegtenhorst, Marjon, Dobyns, William B., de Coo, Irenaeus F. M., van den Berg, Debbie, Verheijen, Frans W., Kremer, Andreas, van der Spek, Peter J., Heijsman, Daphne, Wagner, Eric J., Fornerod, Maarten, Mancini, Grazia M. S.
Julkaisussa PLoS Genet (2017)

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

Tekijä Kuo, Molly E., Theil, Arjan F., Kievit, Anneke, Malicdan, May Christine, Introne, Wendy J., Christian, Thomas, Verheijen, Frans W., Smith, Desiree E.C., Mendes, Marisa I., Hussaarts-Odijk, Lidia, van der Meijden, Eric, van Slegtenhorst, Marjon, Wilke, Martina, Vermeulen, Wim, Raams, Anja, Groden, Catherine, Shimada, Shino, Meyer-Schuman, Rebecca, Hou, Ya Ming, Gahl, William A., Antonellis, Anthony, Salomons, Gajja S., Mancini, Grazia M.S.
Julkaisussa Am J Hum Genet (2019)

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

Tekijä Diderich, Karin E. M., Romijn, Kathleen, Joosten, Marieke, Govaerts, Lutgarde C. P., Polak, Marike, Bruggenwirth, Hennie T., Wilke, Martina, van Slegtenhorst, Marjon A., van Bever, Yolande, Brooks, Alice S., Mancini, Grazia M. S., van de Laar, Ingrid M. B. H., Kromosoeto, Joan N. R., Knapen, Maarten F. C. M., Go, Attie T. J. I., Van Opstal, Diane, Hoefsloot, Lies H., Galjaard, Robert‐Jan H., Srebniak, Malgorzata I.
Julkaisussa Acta Obstet Gynecol Scand (2020)

Perturbed Length–Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations

Tekijä Sequeira, Vasco, Wijnker, Paul J.M., Nijenkamp, Louise L.A.M., Kuster, Diederik W.D., Najafi, Aref, Witjas-Paalberends, E. Rosalie, Regan, Jessica A., Boontje, Nicky, ten Cate, Folkert J., Germans, Tjeerd, Carrier, Lucie, Sadayappan, Sakthivel, van Slegtenhorst, Marjon A., Zaremba, Ruud, Foster, D. Brian, Murphy, Anne M., Poggesi, Corrado, dos Remedios, Cris, Stienen, Ger J.M., Ho, Carolyn Y., Michels, Michelle, van der Velden, Jolanda
Julkaistu 2013

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

Tekijä Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, AhMew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange‐Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean‐Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin‐Robinet, Christel, Zweier, Christiane
Julkaisussa Hum Mutat (2016)

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy

Tekijä Verhagen, Judith M. A., Veldman, Job H., van der Zwaag, Paul A., von der Thüsen, Jan H., Brosens, Erwin, Christiaans, Imke, Dooijes, Dennis, Helderman-van den Enden, Apollonia T. J. M., Lekanne Deprez, Ronald H., Michels, Michelle, van Mil, Anneke M., Oldenburg, Rogier A., van der Smagt, Jasper J., van den Wijngaard, Arthur, Wessels, Marja W., Hofstra, Robert M. W., van Slegtenhorst, Marjon A., Jongbloed, Jan D. H., van de Laar, Ingrid M. B. H.
Julkaisussa Eur J Hum Genet (2018)

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

Tekijä Polla, Daniel L., Edmondson, Andrew C., Duvet, Sandrine, March, Michael E., Sousa, Ana Berta, Lehman, Anna, Niyazov, Dmitriy, van Dijk, Fleur, Demirdas, Serwet, van Slegtenhorst, Marjon A., Kievit, Anneke J.A., Schulz, Celine, Armstrong, Linlea, Bi, Xin, Rader, Daniel J., Izumi, Kosuke, Zackai, Elaine H., de Franco, Elisa, Jorge, Paula, Huffels, Sophie C., Hommersom, Marina, Ellard, Sian, Lefeber, Dirk J., Santani, Avni, Hand, Nicholas J., van Bokhoven, Hans, He, Miao, de Brouwer, Arjan P.M.
Julkaisussa Am J Hum Genet (2021)