LMX1B Is Part of a Transcriptional Complex with PSPC1 and PSF

Por Hoekstra, Elisa J., Mesman, Simone, de Munnik, Willem A., Smidt, Marten P.
Publicado em 2013

Modulation of cellular signaling by herpesvirus-encoded G protein-coupled receptors

Por de Munnik, Sabrina M., Smit, Martine J., Leurs, Rob, Vischer, Henry F.
Publicado no Front Pharmacol (2015)

Agonist activation of the G protein-coupled receptor GPR35 involves transmembrane domain III and is transduced via Gα(13) and β-arrestin-2

Por Jenkins, Laura, Alvarez-Curto, Elisa, Campbell, Kate, de Munnik, Sabrina, Canals, Meritxell, Schlyer, Sabine, Milligan, Graeme
Publicado em 2011

Ubiquitination of CXCR7 Controls Receptor Trafficking

Por Canals, Meritxell, Scholten, Danny J., de Munnik, Sabrina, Han, Mitchell K. L., Smit, Martine J., Leurs, Rob
Publicado em 2012

Pharmacological characterization of a small-molecule agonist for the chemokine receptor CXCR3

Por Scholten, DJ, Canals, M, Wijtmans, M, de Munnik, S, Nguyen, P, Verzijl, D, de Esch, IJP, Vischer, HF, Smit, MJ, Leurs, R
Publicado em 2012

Constitutive ß-Catenin Signaling by the Viral Chemokine Receptor US28

Por Langemeijer, Ellen V., Slinger, Erik, de Munnik, Sabrina, Schreiber, Andreas, Maussang, David, Vischer, Henry, Verkaar, Folkert, Leurs, Rob, Siderius, Marco, Smit, Martine J.
Publicado em 2012

The Viral G Protein-Coupled Receptor ORF74 Hijacks β-Arrestins for Endocytic Trafficking in Response to Human Chemokines

Por de Munnik, Sabrina M., Kooistra, Albert J., van Offenbeek, Jody, Nijmeijer, Saskia, de Graaf, Chris, Smit, Martine J., Leurs, Rob, Vischer, Henry F.
Publicado no PLoS One (2015)

Meier-Gorlin syndrome

Por de Munnik, Sonja A., Hoefsloot, Elisabeth H., Roukema, Jolt, Schoots, Jeroen, Knoers, Nine VAM, Brunner, Han G., Jackson, Andrew P., Bongers, Ernie MHF
Publicado no Orphanet J Rare Dis (2015)

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

Por van der Schoot, Vyne, de Munnik, Sonja, Venselaar, Hanka, Elting, Mariet, Mancini, Grazia M. S., Ravenswaaij‐Arts, Conny M. A., Anderlid, Britt‐Marie, Brunner, Han G., Stevens, Servi J. C.
Publicado no Mol Genet Genomic Med (2018)

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

Por de Munnik, Sonja A, García-Miñaúr, Sixto, Hoischen, Alexander, van Bon, Bregje W, Boycott, Kym M, Schoots, Jeroen, Hoefsloot, Lies H, Knoers, Nine VAM, Bongers, Ernie MHF, Brunner, Han G
Publicado em 2014

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

Por Beunders, Gea, de Munnik, Sonja A, Van der Aa, Nathalie, Ceulemans, Berten, Voorhoeve, Els, Groffen, Alexander J, Nillesen, Willy M, Meijers-Heijboer, Elizabeth J, Frank Kooy, R, Yntema, Helger G, Sistermans, Erik A
Publicado no Eur J Hum Genet (2015)

Non‐Hydrolytic β‐Lactam Antibiotic Fragmentation by l,d‐Transpeptidases and Serine β‐Lactamase Cysteine Variants

Por Lohans, Christopher T., Chan, H. T. Henry, Malla, Tika R., Kumar, Kiran, Kamps, Jos J. A. G., McArdle, Darius J. B., van Groesen, Emma, de Munnik, Mariska, Tooke, Catherine L., Spencer, James, Paton, Robert S., Brem, Jürgen, Schofield, Christopher J.
Publicado no Angew Chem Int Ed Engl (2019)

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

Por Tom S Koemans, Tjitske Kleefstra, Melissa C Chubak, Max H Stone, Margot R F Reijnders, Sonja de Munnik, Marjolein H Willemsen, Michaela Fenckova, Connie T R M Stumpel, Levinus A Bok, Margarita Sifuentes Saenz, Kyna A Byerly, Linda B Baughn, Alexander P A Stegmann, Rolph Pfundt, Huiqing Zhou, Hans van Bokhoven, Annette Schenck, Jamie M Kramer
Publicado em 2017-10-01

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

Por Koemans, Tom S., Kleefstra, Tjitske, Chubak, Melissa C., Stone, Max H., Reijnders, Margot R. F., de Munnik, Sonja, Willemsen, Marjolein H., Fenckova, Michaela, Stumpel, Connie T. R. M., Bok, Levinus A., Sifuentes Saenz, Margarita, Byerly, Kyna A., Baughn, Linda B., Stegmann, Alexander P. A., Pfundt, Rolph, Zhou, Huiqing, van Bokhoven, Hans, Schenck, Annette, Kramer, Jamie M.
Publicado no PLoS Genet (2017)

The constitutive activity of the virally encoded chemokine receptor US28 accelerates glioblastoma growth

Por Heukers, Raimond, Fan, Tian Shu, de Wit, Raymond H., van Senten, Jeffrey R., De Groof, Timo W. M., Bebelman, Maarten P., Lagerweij, Tonny, Vieira, Joao, de Munnik, Sabrina M., Smits-de Vries, Laura, van Offenbeek, Jody, Rahbar, Afsar, van Hoorick, Diane, Söderberg-Naucler, Cecilia, Würdinger, Thomas, Leurs, Rob, Siderius, Marco, Vischer, Henry F., Smit, Martine J.
Publicado no Oncogene (2018)

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Por Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Publicado no Eur J Hum Genet (2015)

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Por Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Publicado no Eur J Hum Genet (2015)

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

Por Burrage, Lindsay C., Charng, Wu-Lin, Eldomery, Mohammad K., Willer, Jason R., Davis, Erica E., Lugtenberg, Dorien, Zhu, Wenmiao, Leduc, Magalie S., Akdemir, Zeynep C., Azamian, Mahshid, Zapata, Gladys, Hernandez, Patricia P., Schoots, Jeroen, de Munnik, Sonja A., Roepman, Ronald, Pearring, Jillian N., Jhangiani, Shalini, Katsanis, Nicholas, Vissers, Lisenka E.L.M., Brunner, Han G., Beaudet, Arthur L., Rosenfeld, Jill A., Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Xia, Fan, Lalani, Seema R., Lupski, James R., Bongers, Ernie M.H.F., Yang, Yaping
Publicado no Am J Hum Genet (2015)

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Por de Munnik, Sonja A, Bicknell, Louise S, Aftimos, Salim, Al-Aama, Jumana Y, van Bever, Yolande, Bober, Michael B, Clayton-Smith, Jill, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, van Hagen, Johanna M, Hennekam, Raoul C, Jansweijer, Maaike C E, Johnson, Diana, Kant, Sarina G, Opitz, John M, Ramadevi, A Radha, Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander-Stumpel, Constance T R M, Schoots, Jeroen, Temple, I Karen, Terhal, Paulien A, Toutain, Annick, Wise, Carol A, Wright, Michael, Skidmore, David L, Samuels, Mark E, Hoefsloot, Lies H, Knoers, Nine V A M, Brunner, Han G, Jackson, Andrew P, Bongers, Ernie M H F
Publicado em 2012

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Por Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Scott Schwoerer, Jessica, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruznikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, Vissers, Lisenka E.L.M.
Publicado no Am J Hum Genet (2019)