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Zhang, Linda, Hsu, Joanne I, Braekeleer, Etienne D, Chen, Chun-Wei, Patel, Tajhal D, Martell, Alejandra G, Guzman, Anna G, Wohlan, Katharina, Waldvogel, Sarah M, Uryu, Hidetaka, Tovy, Ayala, Callen, Elsa, Murdaugh, Rebecca L, Richard, Rosemary, Jansen, Sandra, Vissers, Lisenka, de Vries, Bert B A, Nussenzweig, Andre, Huang, Shixia, Coarfa, Cristian, Anastas, Jamie, Takahashi, Koichi, Vassiliou, George, Goodell, Margaret A
Published in eLife (18.06.2024)
Published in eLife (18.06.2024)
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Novel genetic causes for cerebral visual impairment
Bosch, Daniëlle GM, Boonstra, F Nienke, de Leeuw, Nicole, Pfundt, Rolph, Nillesen, Willy M, de Ligt, Joep, Gilissen, Christian, Jhangiani, Shalini, Lupski, James R, Cremers, Frans PM, de Vries, Bert BA
Published in European journal of human genetics : EJHG (09.09.2015)
Published in European journal of human genetics : EJHG (09.09.2015)
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
de Ligt, Joep, Willemsen, Marjolein H, van Bon, Bregje W.M, Kleefstra, Tjitske, Yntema, Helger G, Kroes, Thessa, Vulto-van Silfhout, Anneke T, Koolen, David A, de Vries, Petra, Gilissen, Christian, del Rosario, Marisol, Hoischen, Alexander, Scheffer, Hans, de Vries, Bert B.A, Brunner, Han G, Veltman, Joris A, Vissers, Lisenka E.L.M
Published in The New England journal of medicine (15.11.2012)
Published in The New England journal of medicine (15.11.2012)
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Novel genetic causes for cerebral visual impairment
Bosch, Daniëlle G M, Boonstra, F Nienke, de Leeuw, Nicole, Pfundt, Rolph, Nillesen, Willy M, de Ligt, Joep, Gilissen, Christian, Jhangiani, Shalini, Lupski, James R, Cremers, Frans P M, de Vries, Bert B A
Published in European journal of human genetics : EJHG (01.05.2016)
Published in European journal of human genetics : EJHG (01.05.2016)
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TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function
Ba, Wei, Yan, Yan, Reijnders, Margot R F, Schuurs-Hoeijmakers, Janneke H M, Feenstra, Ilse, Bongers, Ernie M H F, Bosch, Daniëlle G M, De Leeuw, Nicole, Pfundt, Rolph, Gilissen, Christian, De Vries, Petra F, Veltman, Joris A, Hoischen, Alexander, Mefford, Heather C, Eichler, Evan E, Vissers, Lisenka E L M, Nadif Kasri, Nael, De Vries, Bert B A
Published in Human molecular genetics (01.03.2016)
Published in Human molecular genetics (01.03.2016)
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SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cells
Zhang, Linda, Hsu, Joanne I, Braekeleer, Etienne D, Chen, Chun-Wei, Patel, Tajhal D, Martell, Alejandra G, Guzman, Anna G, Wohlan, Katharina, Waldvogel, Sarah M, Uryu, Hidetaka, Tovy, Ayala, Callen, Elsa, Murdaugh, Rebecca L, Richard, Rosemary, Jansen, Sandra, Vissers, Lisenka, de Vries, Bert BA, Nussenzweig, Andre, Huang, Shixia, Coarfa, Cristian, Anastas, Jamie, Takahashi, Koichi, Vassiliou, George, Goodell, Margaret A
Published in eLife (18.06.2024)
Published in eLife (18.06.2024)
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NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability
Bosch, Daniëlle G.M., Boonstra, F. Nienke, Gonzaga-Jauregui, Claudia, Xu, Mafei, de Ligt, Joep, Jhangiani, Shalini, Wiszniewski, Wojciech, Muzny, Donna M., Yntema, Helger G., Pfundt, Rolph, Vissers, Lisenka E.L.M., Spruijt, Liesbeth, Blokland, Ellen A.W., Chen, Chun-An, Lewis, Richard A., Tsai, Sophia Y., Gibbs, Richard A., Tsai, Ming-Jer, Lupski, James R., Zoghbi, Huda Y., Cremers, Frans P.M., de Vries, Bert B.A., Schaaf, Christian P.
Published in American journal of human genetics (06.02.2014)
Published in American journal of human genetics (06.02.2014)
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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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Cantú Syndrome Is Caused by Mutations in ABCC9
van Bon, Bregje W.M., Gilissen, Christian, Grange, Dorothy K., Hennekam, Raoul C.M., Kayserili, Hülya, Engels, Hartmut, Reutter, Heiko, Ostergaard, John R., Morava, Eva, Tsiakas, Konstantinos, Isidor, Bertrand, Le Merrer, Martine, Eser, Metin, Wieskamp, Nienke, de Vries, Petra, Steehouwer, Marloes, Veltman, Joris A., Robertson, Stephen P., Brunner, Han G., de Vries, Bert B.A., Hoischen, Alexander
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
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Clinical Significance of De Novo and Inherited Copy-Number Variation
Vulto-van Silfhout, Anneke T., Hehir-Kwa, Jayne Y., van Bon, Bregje W.M., Schuurs-Hoeijmakers, Janneke H.M., Meader, Stephen, Hellebrekers, Claudia J.M., Thoonen, Ilse J.M., de Brouwer, Arjan P.M., Brunner, Han G., Webber, Caleb, Pfundt, Rolph, de Leeuw, Nicole, de Vries, Bert B.A.
Published in Human mutation (01.12.2013)
Published in Human mutation (01.12.2013)
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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
Veltman, Joris A, Vissers, Lisenka E L M, van Ravenswaaij, Conny M A, Admiraal, Ronald, Hurst, Jane A, de Vries, Bert B A, Janssen, Irene M, van der Vliet, Walter A, Huys, Erik H L P G, de Jong, Pieter J, Hamel, Ben C J, Schoenmakers, Eric F P M, Brunner, Han G, van Kessel, Ad Geurts
Published in Nature genetics (01.09.2004)
Published in Nature genetics (01.09.2004)
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Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome
Schuurs-Hoeijmakers, Janneke H.M., Oh, Edwin C., Vissers, Lisenka E.L.M., Swinkels, Mariëlle E.M., Gilissen, Christian, Willemsen, Michèl A., Holvoet, Maureen, Steehouwer, Marloes, Veltman, Joris A., de Vries, Bert B.A., van Bokhoven, Hans, de Brouwer, Arjan P.M., Katsanis, Nicholas, Devriendt, Koenraad, Brunner, Han G.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Mutations in MED12 Cause X-Linked Ohdo Syndrome
Vulto-van Silfhout, Anneke T., de Vries, Bert B.A., van Bon, Bregje W.M., Hoischen, Alexander, Ruiterkamp-Versteeg, Martina, Gilissen, Christian, Gao, Fangjian, van Zwam, Marloes, Harteveld, Cornelis L., van Essen, Anthonie J., Hamel, Ben C.J., Kleefstra, Tjitske, Willemsen, Michèl A.A.P., Yntema, Helger G., van Bokhoven, Hans, Brunner, Han G., Boyer, Thomas G., de Brouwer, Arjan P.M.
Published in American journal of human genetics (07.03.2013)
Published in American journal of human genetics (07.03.2013)
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
Vissers, Lisenka E.L.M., Bhatt, Samarth S., Janssen, Irene M., Xia, Zhilian, Lalani, Seema R., Pfundt, Rolph, Derwinska, Katarzyna, de Vries, Bert B.A., Gilissen, Christian, Hoischen, Alexander, Nesteruk, Monika, Wisniowiecka-Kowalnik, Barbara, Smyk, Marta, Brunner, Han G., Cheung, Sau Wai, van Kessel, Ad Geurts, Veltman, Joris A., Stankiewicz, Pawel
Published in Human molecular genetics (01.10.2009)
Published in Human molecular genetics (01.10.2009)
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Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems
Vulto-van Silfhout, Anneke T., Rajamanickam, Shivakumar, Jensik, Philip J., Vergult, Sarah, de Rocker, Nina, Newhall, Kathryn J., Raghavan, Ramya, Reardon, Sara N., Jarrett, Kelsey, McIntyre, Tara, Bulinski, Joseph, Ownby, Stacy L., Huggenvik, Jodi I., McKnight, G. Stanley, Rose, Gregory M., Cai, Xiang, Willaert, Andy, Zweier, Christiane, Endele, Sabine, de Ligt, Joep, van Bon, Bregje W.M., Lugtenberg, Dorien, de Vries, Petra F., Veltman, Joris A., van Bokhoven, Hans, Brunner, Han G., Rauch, Anita, de Brouwer, Arjan P.M., Carvill, Gemma L., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E.L.M., Menten, Björn, Collard, Michael W., de Vries, Bert B.A.
Published in American journal of human genetics (01.05.2014)
Published in American journal of human genetics (01.05.2014)
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Genomic microarrays in mental retardation: A practical workflow for diagnostic applications
Koolen, David A, Pfundt, Rolph, de Leeuw, Nicole, Hehir-Kwa, Jayne Y, Nillesen, Willy M, Neefs, Ineke, Scheltinga, Ine, Sistermans, Erik, Smeets, Dominique, Brunner, Han G, van Kessel, Ad Geurts, Veltman, Joris A, de Vries, Bert B.A
Published in Human mutation (01.03.2009)
Published in Human mutation (01.03.2009)
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The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism
Vandeweyer, Geert, Helsmoortel, Céline, Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Coe, Bradley P., Bernier, Raphael, Gerdts, Jennifer, Rooms, Liesbeth, van den Ende, Jenneke, Bakshi, Madhura, Wilson, Meredith, Nordgren, Ann, Hendon, Laura G., Abdulrahman, Omar A., Romano, Corrado, de Vries, Bert B.A., Kleefstra, Tjitske, Eichler, Evan E., Van der Aa, Nathalie, Kooy, R. Frank
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2014)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2014)
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Characterization of a recurrent 15q24 microdeletion syndrome
Sharp, Andrew J., Selzer, Rebecca R., Veltman, Joris A., Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, Coppola, Antonietta, Regan, Regina, Price, Sue M., Knoers, Nine V., Eis, Peggy S., Brunner, Han G., Hennekam, Raoul C., Knight, Samantha J.L., de Vries, Bert B.A., Zuffardi, Orsetta, Eichler, Evan E.
Published in Human molecular genetics (01.03.2007)
Published in Human molecular genetics (01.03.2007)
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CEP89 is required for mitochondrial metabolism and neuronal function in man and fly
van Bon, Bregje W M, Oortveld, Merel A W, Nijtmans, Leo G, Fenckova, Michaela, Nijhof, Bonnie, Besseling, Judith, Vos, Melissa, Kramer, Jamie M, de Leeuw, Nicole, Castells-Nobau, Anna, Asztalos, Lenke, Viragh, Erika, Ruiter, Mariken, Hofmann, Falko, Eshuis, Lillian, Collavin, Licio, Huynen, Martijn A, Asztalos, Zoltan, Verstreken, Patrik, Rodenburg, Richard J, Smeitink, Jan A, de Vries, Bert B A, Schenck, Annette
Published in Human molecular genetics (01.08.2013)
Published in Human molecular genetics (01.08.2013)
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A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy
de Brouwer, Arjan P M, Nabuurs, Sander B, Verhaart, Ingrid E C, Oudakker, Astrid R, Hordijk, Roel, Yntema, Helger G, Hordijk-Hos, Jannet M, Voesenek, Krysta, de Vries, Bert B A, van Essen, Ton, Chen, Wei, Hu, Hao, Chelly, Jamel, den Dunnen, Johan T, Kalscheuer, Vera M, Aartsma-Rus, Annemieke M, Hamel, Ben C J, van Bokhoven, Hans, Kleefstra, Tjitske
Published in European journal of human genetics : EJHG (01.04.2014)
Published in European journal of human genetics : EJHG (01.04.2014)
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