69 results on '"CMM Sectie Genomics and Bioinformatics"'
Search Results
2. In Vitro Systematic Drug Testing Reveals Carboplatin, Paclitaxel, and Alpelisib as a Potential Novel Combination Treatment for Adult Granulosa Cell Tumors
- Author
-
MS Gynaecologische Oncologie, Cancer, MS Medische Oncologie, Genetica Groep Van Haaften, Child Health, Arts-assistenten DV&B, Speerpunt Cancer, Pathologie Pathologen staf, Genetica Sectie Research, CMM Sectie Genomics and Bioinformatics, Roze, Joline, Sendino Garví, Elena, Stelloo, Ellen, Stangl, Christina, Sereno, Ferdinando, Duran, Karen, Groeneweg, Jolijn, Paijens, Sterre, Nijman, Hans, van Meurs, Hannah, van Lonkhuijzen, Luc, Piek, Jurgen, Lok, Christianne, Jonges, Geertruida, Witteveen, Petronella, Verheijen, René, van Haaften, Gijs, Zweemer, Ronald, Monroe, Glen, MS Gynaecologische Oncologie, Cancer, MS Medische Oncologie, Genetica Groep Van Haaften, Child Health, Arts-assistenten DV&B, Speerpunt Cancer, Pathologie Pathologen staf, Genetica Sectie Research, CMM Sectie Genomics and Bioinformatics, Roze, Joline, Sendino Garví, Elena, Stelloo, Ellen, Stangl, Christina, Sereno, Ferdinando, Duran, Karen, Groeneweg, Jolijn, Paijens, Sterre, Nijman, Hans, van Meurs, Hannah, van Lonkhuijzen, Luc, Piek, Jurgen, Lok, Christianne, Jonges, Geertruida, Witteveen, Petronella, Verheijen, René, van Haaften, Gijs, Zweemer, Ronald, and Monroe, Glen
- Published
- 2021
3. Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations
- Author
-
Genetica Sectie Metabole Diagnostiek, Genetica Groep Van Haaften, Child Health, Medische Fysiologie, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Cancer, Ciapaite, Jolita, Albersen, Monique, Savelberg, Sanne M C, Bosma, Marjolein, Tessadori, Federico, Gerrits, Johan, Lansu, Nico, Zwakenberg, Susan, Bakkers, Jeroen P W, Zwartkruis, Fried J T, van Haaften, Gijs, Jans, Judith J, Verhoeven-Duif, Nanda M, Genetica Sectie Metabole Diagnostiek, Genetica Groep Van Haaften, Child Health, Medische Fysiologie, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Cancer, Ciapaite, Jolita, Albersen, Monique, Savelberg, Sanne M C, Bosma, Marjolein, Tessadori, Federico, Gerrits, Johan, Lansu, Nico, Zwakenberg, Susan, Bakkers, Jeroen P W, Zwartkruis, Fried J T, van Haaften, Gijs, Jans, Judith J, and Verhoeven-Duif, Nanda M
- Published
- 2020
4. A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder
- Author
-
Genetica Groep Van Haaften, Child Health, Genetica Klinische Genetica, Medische Fysiologie, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Cancer, Tessadori, Federico, Rehman, Atteeq U, Giltay, Jacques C, Xia, Fan, Streff, Haley, Duran, Karen, Bakkers, Jeroen, Lalani, Seema R, van Haaften, Gijs, Genetica Groep Van Haaften, Child Health, Genetica Klinische Genetica, Medische Fysiologie, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Cancer, Tessadori, Federico, Rehman, Atteeq U, Giltay, Jacques C, Xia, Fan, Streff, Haley, Duran, Karen, Bakkers, Jeroen, Lalani, Seema R, and van Haaften, Gijs
- Published
- 2020
5. Whole Genome Analysis of Ovarian Granulosa Cell Tumors Reveals Tumor Heterogeneity and a High-Grade TP53-Specific Subgroup
- Author
-
MS Gynaecologische Oncologie, Cancer, CMM Groep De Ridder, CMM Groep Cuppen, Pathologie Pathologen staf, MS Medische Oncologie, CMM Sectie Genomics and Bioinformatics, Child Health, Roze, Joline, Monroe, Glen, Kutzera, Joachim, Groeneweg, Jolijn, Stelloo, Ellen, Paijens, Sterre, Nijman, Hans, Meurs, Hannah van, Lonkhuijzen, Luc van, Piek, Jurgen, Lok, Christianne, Jonges, Geertruida, Witteveen, Petronella, Verheijen, René, Haaften, Gijs van, Zweemer, Ronald, MS Gynaecologische Oncologie, Cancer, CMM Groep De Ridder, CMM Groep Cuppen, Pathologie Pathologen staf, MS Medische Oncologie, CMM Sectie Genomics and Bioinformatics, Child Health, Roze, Joline, Monroe, Glen, Kutzera, Joachim, Groeneweg, Jolijn, Stelloo, Ellen, Paijens, Sterre, Nijman, Hans, Meurs, Hannah van, Lonkhuijzen, Luc van, Piek, Jurgen, Lok, Christianne, Jonges, Geertruida, Witteveen, Petronella, Verheijen, René, Haaften, Gijs van, and Zweemer, Ronald
- Published
- 2020
6. Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity
- Author
-
Metabole ziekten onderzoek 1, Cancer, Genetica Sectie Metabole Diagnostiek, CMM Groep Burgering, Child Health, MDL patientenzorg, CMM Sectie Genomics and Bioinformatics, Cluster C, Metabole ziekten patientenzorg, Rumping, Lynne, Pras-Raves, Mia L, Gerrits, Johan, Tang, Yuen Fung, Willemsen, Marcel A, Houwen, Roderick H J, van Haaften, Gijs, van Hasselt, Peter M, Verhoeven-Duif, Nanda M, Jans, Judith J M, Metabole ziekten onderzoek 1, Cancer, Genetica Sectie Metabole Diagnostiek, CMM Groep Burgering, Child Health, MDL patientenzorg, CMM Sectie Genomics and Bioinformatics, Cluster C, Metabole ziekten patientenzorg, Rumping, Lynne, Pras-Raves, Mia L, Gerrits, Johan, Tang, Yuen Fung, Willemsen, Marcel A, Houwen, Roderick H J, van Haaften, Gijs, van Hasselt, Peter M, Verhoeven-Duif, Nanda M, and Jans, Judith J M
- Published
- 2020
7. A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine
- Author
-
Genetica, CMM Sectie Genomics and Bioinformatics, Genetica Groep Koeleman, Cancer, Brain, Child Health, Circulatory Health, The EpiPGX Consortium, Genetica, CMM Sectie Genomics and Bioinformatics, Genetica Groep Koeleman, Cancer, Brain, Child Health, Circulatory Health, and The EpiPGX Consortium
- Published
- 2019
8. Fetal methotrexate syndrome: A systematic review of case reports
- Author
-
MS VPG/Gynaecologie, Genetica, CMM Sectie Genomics and Bioinformatics, Genetica Klinische Genetica, Verberne, Eline A., de Haan, Emma, van Tintelen, J. Peter, Lindhout, Dick, van Haelst, Mieke M., MS VPG/Gynaecologie, Genetica, CMM Sectie Genomics and Bioinformatics, Genetica Klinische Genetica, Verberne, Eline A., de Haan, Emma, van Tintelen, J. Peter, Lindhout, Dick, and van Haelst, Mieke M.
- Published
- 2019
9. Assessment of parental mosaicism in SCN1A -related epilepsy by single-molecule molecular inversion probes and next-generation sequencing
- Author
-
Child Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Genetica Oper. Mangt Genoom Diagnostiek, Brain, CMM USEQ Facility, Cancer, CMM Groep Cuppen, Genetica Medische Informatica, Genetica Groep Koeleman, Circulatory Health, UMC Utrecht, De Lange, Iris M., Koudijs, Marco J., Van 'T Slot, Ruben, Sonsma, Anja C.M., Mulder, Flip, Carbo, Ellen C., Van Kempen, Marjan J.A., Nijman, Isaac J., Ernst, Robert F., Savelberg, Sanne M.C., Knoers, Nine V.A.M., Brilstra, Eva H., Koeleman, Bobby P.C., Child Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Genetica Oper. Mangt Genoom Diagnostiek, Brain, CMM USEQ Facility, Cancer, CMM Groep Cuppen, Genetica Medische Informatica, Genetica Groep Koeleman, Circulatory Health, UMC Utrecht, De Lange, Iris M., Koudijs, Marco J., Van 'T Slot, Ruben, Sonsma, Anja C.M., Mulder, Flip, Carbo, Ellen C., Van Kempen, Marjan J.A., Nijman, Isaac J., Ernst, Robert F., Savelberg, Sanne M.C., Knoers, Nine V.A.M., Brilstra, Eva H., and Koeleman, Bobby P.C.
- Published
- 2019
10. Identification of human D lactate dehydrogenase deficiency
- Author
-
MS Gynaecologische Oncologie, Circulatory Health, Genetica Klinische Genetica, Child Health, Genetica Groep Van Haaften, Metabole ziekten patientenzorg, Regenerative Medicine and Stem Cells, Genetica Sectie Metabole Diagnostiek, CMM Groep Kloosterman, Genetica Sectie Genoomdiagnostiek, LKCH Staf Patiëntenzorg, ZL Kinder Ner en Nec Medisch, Brain, Genetica, Medische Fysiologie, Cancer, CMM Sectie Genomics and Bioinformatics, Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, Jans, Judith J, MS Gynaecologische Oncologie, Circulatory Health, Genetica Klinische Genetica, Child Health, Genetica Groep Van Haaften, Metabole ziekten patientenzorg, Regenerative Medicine and Stem Cells, Genetica Sectie Metabole Diagnostiek, CMM Groep Kloosterman, Genetica Sectie Genoomdiagnostiek, LKCH Staf Patiëntenzorg, ZL Kinder Ner en Nec Medisch, Brain, Genetica, Medische Fysiologie, Cancer, CMM Sectie Genomics and Bioinformatics, Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, and Jans, Judith J
- Published
- 2019
11. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
- Author
-
Genetica, Genetica Klinische Genetica, Brain, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M., Genetica, Genetica Klinische Genetica, Brain, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, and Campeau, Philippe M.
- Published
- 2019
12. Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents
- Author
-
Genetica Groep Van Haaften, Child Health, CMM Sectie Genomics and Bioinformatics, Cancer, Medische Fysiologie, Circulatory Health, Houtman, Marien J C, Chen, Xingyu, Qile, Muge, Duran, Karen, van Haaften, Gijs, Stary-Weinzinger, Anna, van der Heyden, Marcel A G, Genetica Groep Van Haaften, Child Health, CMM Sectie Genomics and Bioinformatics, Cancer, Medische Fysiologie, Circulatory Health, Houtman, Marien J C, Chen, Xingyu, Qile, Muge, Duran, Karen, van Haaften, Gijs, Stary-Weinzinger, Anna, and van der Heyden, Marcel A G
- Published
- 2019
13. GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay
- Author
-
Genetica, Metabole ziekten onderzoek 1, Cancer, Genetica Groep Van Haaften, Child Health, Researchgr. Systems Radiology, Highfield Research Group, Brain, Genetica Sectie Metabole Diagnostiek, Zorgeenheid Oogheelkunde Zorg, MS Oogheelkunde, Other research (not in main researchprogram), Genetica Klinische Genetica, Circulatory Health, Regenerative Medicine and Stem Cells, Medische Fysiologie, CMM Sectie Molecular Cancer Research, CMM Groep Dansen, CMM Groep Bos, MDL, CMM Sectie Genomics and Bioinformatics, Cluster C, Metabole ziekten patientenzorg, UMC Utrecht, Rumping, Lynne, Tessadori, Federico, Pouwels, Petra J.W., Vringer, Esmee, Wijnen, Jannie P., Bhogal, Alex A., Savelberg, Sanne M.C., Duran, Karen J., Bakkers, Mark J.G., Ramos, Rúben J.J., Schellekens, Peter A.W., Kroes, Hester Y., Klomp, Dennis W.J., Black, Graeme C.M., Taylor, Rachel L., Bakkers, Jeroen P.W., Prinsen, Hubertus C.M.T., van der Knaap, Marjo S., Dansen, Tobias B., Rehmann, Holger, Zwartkruis, Fried J.T., Houwen, Roderick H.J., van Haaften, Gijs, Verhoeven-Duif, Nanda M., Jans, Judith J.M., van Hasselt, Peter M., Genetica, Metabole ziekten onderzoek 1, Cancer, Genetica Groep Van Haaften, Child Health, Researchgr. Systems Radiology, Highfield Research Group, Brain, Genetica Sectie Metabole Diagnostiek, Zorgeenheid Oogheelkunde Zorg, MS Oogheelkunde, Other research (not in main researchprogram), Genetica Klinische Genetica, Circulatory Health, Regenerative Medicine and Stem Cells, Medische Fysiologie, CMM Sectie Molecular Cancer Research, CMM Groep Dansen, CMM Groep Bos, MDL, CMM Sectie Genomics and Bioinformatics, Cluster C, Metabole ziekten patientenzorg, UMC Utrecht, Rumping, Lynne, Tessadori, Federico, Pouwels, Petra J.W., Vringer, Esmee, Wijnen, Jannie P., Bhogal, Alex A., Savelberg, Sanne M.C., Duran, Karen J., Bakkers, Mark J.G., Ramos, Rúben J.J., Schellekens, Peter A.W., Kroes, Hester Y., Klomp, Dennis W.J., Black, Graeme C.M., Taylor, Rachel L., Bakkers, Jeroen P.W., Prinsen, Hubertus C.M.T., van der Knaap, Marjo S., Dansen, Tobias B., Rehmann, Holger, Zwartkruis, Fried J.T., Houwen, Roderick H.J., van Haaften, Gijs, Verhoeven-Duif, Nanda M., Jans, Judith J.M., and van Hasselt, Peter M.
- Published
- 2019
14. EML1-associated brain overgrowth syndrome with ribbon-like heterotopia
- Author
-
Genetica Klinische Genetica, Brain, Child Health, Genetica Groep Van Haaften, CMM Sectie Genomics and Bioinformatics, Cancer, MS Radiologie, Circulatory Health, Oegema, Renske, McGillivray, George, Leventer, Richard, Le Moing, Anne-Gaëlle, Bahi-Buisson, Nadia, Barnicoat, Angela, Mandelstam, Simone, Francis, David, Francis, Fiona, Mancini, Grazia M S, Savelberg, Sanne, van Haaften, Gijs, Mankad, Kshitij, Lequin, Maarten H, Genetica Klinische Genetica, Brain, Child Health, Genetica Groep Van Haaften, CMM Sectie Genomics and Bioinformatics, Cancer, MS Radiologie, Circulatory Health, Oegema, Renske, McGillivray, George, Leventer, Richard, Le Moing, Anne-Gaëlle, Bahi-Buisson, Nadia, Barnicoat, Angela, Mandelstam, Simone, Francis, David, Francis, Fiona, Mancini, Grazia M S, Savelberg, Sanne, van Haaften, Gijs, Mankad, Kshitij, and Lequin, Maarten H
- Published
- 2019
15. Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry
- Author
-
Genetica Groep Van Haaften, Child Health, Genetica, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, Cancer, Grange, Dorothy K., Roessler, Helen I., McClenaghan, Conor, Duran, Karen, Shields, Kathleen, Remedi, Maria S., Knoers, Nine V.A.M., Lee, Jin Moo, Kirk, Edwin P., Scurr, Ingrid, Smithson, Sarah F., Singh, Gautam K., van Haelst, Mieke M., Nichols, Colin G., van Haaften, Gijs, Genetica Groep Van Haaften, Child Health, Genetica, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, Cancer, Grange, Dorothy K., Roessler, Helen I., McClenaghan, Conor, Duran, Karen, Shields, Kathleen, Remedi, Maria S., Knoers, Nine V.A.M., Lee, Jin Moo, Kirk, Edwin P., Scurr, Ingrid, Smithson, Sarah F., Singh, Gautam K., van Haelst, Mieke M., Nichols, Colin G., and van Haaften, Gijs
- Published
- 2019
16. ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
- Author
-
Genetica Groep Van Haaften, Genetica Sectie Genoomdiagnostiek, Child Health, Medische Fysiologie, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Cancer, Smeland, Marie F, McClenaghan, Conor, Roessler, Helen I, Savelberg, Sanne, Hansen, Geir Åsmund Myge, Hjellnes, Helene, Arntzen, Kjell Arne, Müller, Kai Ivar, Dybesland, Andreas Rosenberger, Harter, Theresa, Sala-Rabanal, Monica, Emfinger, Chris H, Huang, Yan, Singareddy, Soma S, Gunn, Jamie, Wozniak, David F, Kovacs, Attila, Massink, Maarten, Tessadori, Federico, Kamel, Sarah M, Bakkers, Jeroen, Remedi, Maria S, Van Ghelue, Marijke, Nichols, Colin G, van Haaften, Gijs, Genetica Groep Van Haaften, Genetica Sectie Genoomdiagnostiek, Child Health, Medische Fysiologie, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Cancer, Smeland, Marie F, McClenaghan, Conor, Roessler, Helen I, Savelberg, Sanne, Hansen, Geir Åsmund Myge, Hjellnes, Helene, Arntzen, Kjell Arne, Müller, Kai Ivar, Dybesland, Andreas Rosenberger, Harter, Theresa, Sala-Rabanal, Monica, Emfinger, Chris H, Huang, Yan, Singareddy, Soma S, Gunn, Jamie, Wozniak, David F, Kovacs, Attila, Massink, Maarten, Tessadori, Federico, Kamel, Sarah M, Bakkers, Jeroen, Remedi, Maria S, Van Ghelue, Marijke, Nichols, Colin G, and van Haaften, Gijs
- Published
- 2019
17. Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
- Author
-
Genetica Groep Van Haaften, Child Health, CMM Groep Maurice, Regenerative Medicine and Stem Cells, Cancer, Genetica Klinische Genetica, Circulatory Health, Zorgeenheid Plastische Chirurgie Medisch, Other research (not in main researchprogram), Pathologie Groep Derksen, Medische Fysiologie, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Kievit, Anneke, Tessadori, Federico, Douben, Hannie, Jordens, Ingrid, Maurice, Madelon, Hoogeboom, Jeannette, Hennekam, Raoul, Nampoothiri, Sheela, Kayserili, Hülya, Castori, Marco, Whiteford, Margo, Motter, Connie, Melver, Catherine, Cunningham, Michael, Hing, Anne, Kokitsu-Nakata, Nancy M, Vendramini-Pittoli, Siulan, Richieri-Costa, Antonio, Baas, Annette F, Breugem, Corstiaan C, Duran, Karen, Massink, Maarten, Derksen, Patrick W B, van IJcken, Wilfred F J, van Unen, Leontine, Santos-Simarro, Fernando, Lapunzina, Pablo, Gil-da Silva Lopes, Vera L, Lustosa-Mendes, Elaine, Krall, Max, Slavotinek, Anne, Martinez-Glez, Victor, Bakkers, Jeroen, van Gassen, Koen L I, de Klein, Annelies, van den Boogaard, Marie-José H, van Haaften, Gijs, Genetica Groep Van Haaften, Child Health, CMM Groep Maurice, Regenerative Medicine and Stem Cells, Cancer, Genetica Klinische Genetica, Circulatory Health, Zorgeenheid Plastische Chirurgie Medisch, Other research (not in main researchprogram), Pathologie Groep Derksen, Medische Fysiologie, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Kievit, Anneke, Tessadori, Federico, Douben, Hannie, Jordens, Ingrid, Maurice, Madelon, Hoogeboom, Jeannette, Hennekam, Raoul, Nampoothiri, Sheela, Kayserili, Hülya, Castori, Marco, Whiteford, Margo, Motter, Connie, Melver, Catherine, Cunningham, Michael, Hing, Anne, Kokitsu-Nakata, Nancy M, Vendramini-Pittoli, Siulan, Richieri-Costa, Antonio, Baas, Annette F, Breugem, Corstiaan C, Duran, Karen, Massink, Maarten, Derksen, Patrick W B, van IJcken, Wilfred F J, van Unen, Leontine, Santos-Simarro, Fernando, Lapunzina, Pablo, Gil-da Silva Lopes, Vera L, Lustosa-Mendes, Elaine, Krall, Max, Slavotinek, Anne, Martinez-Glez, Victor, Bakkers, Jeroen, van Gassen, Koen L I, de Klein, Annelies, van den Boogaard, Marie-José H, and van Haaften, Gijs
- Published
- 2018
18. Genetic obesity: Next-generation sequencing results of 1230 patients with obesity
- Author
-
Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Kleinendorst, Lotte, Massink, Maarten P.G., Cooiman, Mellody I., Savas, Mesut, Van Der Baan-Slootweg, Olga H., Roelants, Roosje J., Janssen, Ignace C.M., Meijers-Heijboer, Hanne J., Knoers, Nine V.A.M., Ploos Van Amstel, Hans Kristian, Van Rossum, Elisabeth F.C., Van Den Akker, Erica L.T., Van Haaften, Gijs, Van Der Zwaag, Bert, Van Haelst, Mieke M., Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Kleinendorst, Lotte, Massink, Maarten P.G., Cooiman, Mellody I., Savas, Mesut, Van Der Baan-Slootweg, Olga H., Roelants, Roosje J., Janssen, Ignace C.M., Meijers-Heijboer, Hanne J., Knoers, Nine V.A.M., Ploos Van Amstel, Hans Kristian, Van Rossum, Elisabeth F.C., Van Den Akker, Erica L.T., Van Haaften, Gijs, Van Der Zwaag, Bert, and Van Haelst, Mieke M.
- Published
- 2018
19. Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders
- Author
-
Genetica Groep Van Haaften, Hubrecht Institute with UMC, Child Health, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, Medische Fysiologie, Circulatory Health, Tessadori, Federico, Roessler, Helen I., Savelberg, Sanne M.C., Chocron, Sonja, Kamel, Sarah M., Duran, Karen J., Van Haelst, Mieke M., Van Haaften, Gijs, Bakkers, Jeroen, Genetica Groep Van Haaften, Hubrecht Institute with UMC, Child Health, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, Medische Fysiologie, Circulatory Health, Tessadori, Federico, Roessler, Helen I., Savelberg, Sanne M.C., Chocron, Sonja, Kamel, Sarah M., Duran, Karen J., Van Haelst, Mieke M., Van Haaften, Gijs, and Bakkers, Jeroen
- Published
- 2018
20. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
- Author
-
MS Gynaecologische Oncologie, Circulatory Health, Cluster C, Metabole ziekten patientenzorg, Child Health, CMM Sectie Genomics and Bioinformatics, Gueneau, Lucie, Fish, Richard J, Shamseldin, Hanan E, Voisin, Norine, Tran Mau-Them, Frédéric, Preiksaitiene, Egle, Monroe, Glen R, Lai, Angeline, Putoux, Audrey, Allias, Fabienne, Ambusaidi, Qamariya, Ambrozaityte, Laima, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem, Mais, Kurdi, Wesam, Jamuar, Saumya Shekhar, Ying, Lim J, Bonnard, Carine, Pippucci, Tommaso, Pradervand, Sylvain, Roechert, Bernd, van Hasselt, Peter M, Wiederkehr, Michaël, Wright, Caroline F, Xenarios, Ioannis, van Haaften, Gijs, Shaw-Smith, Charles, Schindewolf, Erica M, Neerman-Arbez, Marguerite, Sanlaville, Damien, Lesca, Gaëtan, Guibaud, Laurent, Reversade, Bruno, Chelly, Jamel, Kučinskas, Vaidutis, Alkuraya, Fowzan S, Reymond, Alexandre, DDD Study, MS Gynaecologische Oncologie, Circulatory Health, Cluster C, Metabole ziekten patientenzorg, Child Health, CMM Sectie Genomics and Bioinformatics, Gueneau, Lucie, Fish, Richard J, Shamseldin, Hanan E, Voisin, Norine, Tran Mau-Them, Frédéric, Preiksaitiene, Egle, Monroe, Glen R, Lai, Angeline, Putoux, Audrey, Allias, Fabienne, Ambusaidi, Qamariya, Ambrozaityte, Laima, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem, Mais, Kurdi, Wesam, Jamuar, Saumya Shekhar, Ying, Lim J, Bonnard, Carine, Pippucci, Tommaso, Pradervand, Sylvain, Roechert, Bernd, van Hasselt, Peter M, Wiederkehr, Michaël, Wright, Caroline F, Xenarios, Ioannis, van Haaften, Gijs, Shaw-Smith, Charles, Schindewolf, Erica M, Neerman-Arbez, Marguerite, Sanlaville, Damien, Lesca, Gaëtan, Guibaud, Laurent, Reversade, Bruno, Chelly, Jamel, Kučinskas, Vaidutis, Alkuraya, Fowzan S, Reymond, Alexandre, and DDD Study
- Published
- 2018
21. Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes
- Author
-
Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Genetica Oper. Mangt Genoom Diagnostiek, Brain, CMM Groep Cuppen, Genetica Medische Informatica, Cancer, Genetica Groep Koeleman, Circulatory Health, de Lange, Iris M., Koudijs, Marco J., van 't Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C.M., van Gemert, Lisette J.J.M., Mulder, Flip, Carbo, Ellen C., van Kempen, Marjan J.A., Verbeek, Nienke E., Nijman, Isaac J., Ernst, Robert F., Savelberg, Sanne M.C., Knoers, Nine V.A.M., Brilstra, Eva H., Koeleman, Bobby P.C., Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Genetica Oper. Mangt Genoom Diagnostiek, Brain, CMM Groep Cuppen, Genetica Medische Informatica, Cancer, Genetica Groep Koeleman, Circulatory Health, de Lange, Iris M., Koudijs, Marco J., van 't Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C.M., van Gemert, Lisette J.J.M., Mulder, Flip, Carbo, Ellen C., van Kempen, Marjan J.A., Verbeek, Nienke E., Nijman, Isaac J., Ernst, Robert F., Savelberg, Sanne M.C., Knoers, Nine V.A.M., Brilstra, Eva H., and Koeleman, Bobby P.C.
- Published
- 2018
22. Analysis of shared heritability in common disorders of the brain
- Author
-
CMM Sectie Genomics and Bioinformatics, CMM Groep De Ridder, Circulatory Health, Brain, Onderzoek, Hersenen-Medisch 1, Genetica Groep Koeleman, Child Health, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K, Walters, Raymond K, Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J, Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A, Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H, Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-François, Duron, Emmanuelle, Vardarajan, Badri N, Reitz, Christiane, Goate, Alison M, Huentelman, Matthew J, Kamboh, M Ilyas, Larson, Eric B, Rogaeva, Ekaterina, St George-Hyslop, Peter, Hakonarson, Hakon, Kukull, Walter A, Farrer, Lindsay A, Barnes, Lisa L, Beach, Thomas G, Demirci, F Yesim, Head, Elizabeth, Hulette, Christine M, Jicha, Gregory A, Lindhout, Dick, Pulit, Sara, Vorstman, Jacob, Ophoff, Roel, Cahn, Wiepke, van Os, Jim, Koeleman, Bobby, Brainstorm Consortium, CMM Sectie Genomics and Bioinformatics, CMM Groep De Ridder, Circulatory Health, Brain, Onderzoek, Hersenen-Medisch 1, Genetica Groep Koeleman, Child Health, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K, Walters, Raymond K, Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J, Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A, Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H, Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-François, Duron, Emmanuelle, Vardarajan, Badri N, Reitz, Christiane, Goate, Alison M, Huentelman, Matthew J, Kamboh, M Ilyas, Larson, Eric B, Rogaeva, Ekaterina, St George-Hyslop, Peter, Hakonarson, Hakon, Kukull, Walter A, Farrer, Lindsay A, Barnes, Lisa L, Beach, Thomas G, Demirci, F Yesim, Head, Elizabeth, Hulette, Christine M, Jicha, Gregory A, Lindhout, Dick, Pulit, Sara, Vorstman, Jacob, Ophoff, Roel, Cahn, Wiepke, van Os, Jim, Koeleman, Bobby, and Brainstorm Consortium
- Published
- 2018
23. Cantu syndrome-Associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-offunction by differential mechanisms
- Author
-
Genetica Groep Van Haaften, CMM Sectie Genomics and Bioinformatics, Child Health, McClenaghan, Conor, Hanson, Alex, Sala-Rabanal, Monica, Roessler, Helen I., Josifova, Dragana, Grange, Dorothy K., Van Haaften, Gijs, Nichols, Colin G., Genetica Groep Van Haaften, CMM Sectie Genomics and Bioinformatics, Child Health, McClenaghan, Conor, Hanson, Alex, Sala-Rabanal, Monica, Roessler, Helen I., Josifova, Dragana, Grange, Dorothy K., Van Haaften, Gijs, and Nichols, Colin G.
- Published
- 2018
24. The ontogeny of Robin sequence
- Author
-
Zorgeenheid Plastische Chirurgie Medisch, Other research (not in main researchprogram), CMM Sectie Genomics and Bioinformatics, Child Health, Genetica Klinische Genetica, Logjes, Robrecht J H, Breugem, Corstiaan C, Van Haaften, Gijs, Paes, Emma C, Sperber, Geoffrey H, van den Boogaard, Marie-José H, Farlie, Peter G, Zorgeenheid Plastische Chirurgie Medisch, Other research (not in main researchprogram), CMM Sectie Genomics and Bioinformatics, Child Health, Genetica Klinische Genetica, Logjes, Robrecht J H, Breugem, Corstiaan C, Van Haaften, Gijs, Paes, Emma C, Sperber, Geoffrey H, van den Boogaard, Marie-José H, and Farlie, Peter G
- Published
- 2018
25. Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency
- Author
-
Regenerative Medicine and Stem Cells, MDL onderzoek 2, Child Health, MDL onderzoek 1, CMM Sectie Molecular Cancer Research, CMM Groep Burgering, Cancer, Genetica Klinische Genetica, Genetica Groep Van Haaften, Pathologie Pathologen staf, Zorg en O&O, Infection & Immunity, CMM Sectie Stem Cells, Immunologie onderzoek 2, Onderzoek, CMM Sectie Genomics and Bioinformatics, MDL patientenzorg, van Rijn, Jorik M., Ardy, Rico Chandra, Kuloğlu, Zarife, Härter, Bettina, van Haaften-Visser, Désirée Y., van der Doef, Hubert P.J., van Hoesel, Marliek, Kansu, Aydan, van Vugt, Anke H.M., Thian, Marini, Kokke, Freddy T.M., Krolo, Ana, Başaran, Meryem Keçeli, Kaya, Neslihan Gurcan, Aksu, Aysel Ünlüsoy, Dalgıç, Buket, Ozcay, Figen, Baris, Zeren, Kain, Renate, Stigter, Edwin C.A., Lichtenbelt, Klaske D., Massink, Maarten P.G., Duran, Karen J., Verheij, Joke B.G.M., Lugtenberg, Dorien, Nikkels, Peter G.J., Brouwer, Henricus G.F., Verkade, Henkjan J., Scheenstra, René, Spee, Bart, Nieuwenhuis, Edward E.S., Coffer, Paul J., Janecke, Andreas R., van Haaften, Gijs, Houwen, Roderick H.J., Müller, Thomas, Middendorp, Sabine, Boztug, Kaan, Regenerative Medicine and Stem Cells, MDL onderzoek 2, Child Health, MDL onderzoek 1, CMM Sectie Molecular Cancer Research, CMM Groep Burgering, Cancer, Genetica Klinische Genetica, Genetica Groep Van Haaften, Pathologie Pathologen staf, Zorg en O&O, Infection & Immunity, CMM Sectie Stem Cells, Immunologie onderzoek 2, Onderzoek, CMM Sectie Genomics and Bioinformatics, MDL patientenzorg, van Rijn, Jorik M., Ardy, Rico Chandra, Kuloğlu, Zarife, Härter, Bettina, van Haaften-Visser, Désirée Y., van der Doef, Hubert P.J., van Hoesel, Marliek, Kansu, Aydan, van Vugt, Anke H.M., Thian, Marini, Kokke, Freddy T.M., Krolo, Ana, Başaran, Meryem Keçeli, Kaya, Neslihan Gurcan, Aksu, Aysel Ünlüsoy, Dalgıç, Buket, Ozcay, Figen, Baris, Zeren, Kain, Renate, Stigter, Edwin C.A., Lichtenbelt, Klaske D., Massink, Maarten P.G., Duran, Karen J., Verheij, Joke B.G.M., Lugtenberg, Dorien, Nikkels, Peter G.J., Brouwer, Henricus G.F., Verkade, Henkjan J., Scheenstra, René, Spee, Bart, Nieuwenhuis, Edward E.S., Coffer, Paul J., Janecke, Andreas R., van Haaften, Gijs, Houwen, Roderick H.J., Müller, Thomas, Middendorp, Sabine, and Boztug, Kaan
- Published
- 2018
26. Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients
- Author
-
Genetica Groep Van Haaften, Genetica Klinische Genetica, Child Health, CMM Sectie Genomics and Bioinformatics, Roessler, Helen I, Volker-Touw, Catharina M L, Terhal, Paulien A, van Haaften, Gijs, van Haelst, Mieke M, Genetica Groep Van Haaften, Genetica Klinische Genetica, Child Health, CMM Sectie Genomics and Bioinformatics, Roessler, Helen I, Volker-Touw, Catharina M L, Terhal, Paulien A, van Haaften, Gijs, and van Haelst, Mieke M
- Published
- 2018
27. Further delineation of the GDF6 related multiple synostoses syndrome
- Author
-
Genetica Klinische Genetica, Child Health, Genetica, Arts-assistenten Radiologie, Other research (not in main researchprogram), MS Orthopaedie Algemeen, Regenerative Medicine and Stem Cells, MS KNO, CMM Sectie Genomics and Bioinformatics, Terhal, Paulien A., Verbeek, Nienke E., Knoers, Nine, Nievelstein, Rutger J.A.J., van den Ouweland, Ans, Sakkers, Ralph J, Speleman, Lucienne, van Haaften, Gijs, Genetica Klinische Genetica, Child Health, Genetica, Arts-assistenten Radiologie, Other research (not in main researchprogram), MS Orthopaedie Algemeen, Regenerative Medicine and Stem Cells, MS KNO, CMM Sectie Genomics and Bioinformatics, Terhal, Paulien A., Verbeek, Nienke E., Knoers, Nine, Nievelstein, Rutger J.A.J., van den Ouweland, Ans, Sakkers, Ralph J, Speleman, Lucienne, and van Haaften, Gijs
- Published
- 2018
28. Mapping and phasing of structural variation in patient genomes using nanopore sequencing
- Author
-
CMM Groep Kaaij, Circulatory Health, CMM Groep Kloosterman, Genetica, CMM Groep De Ridder, CMM Groep Cuppen, Cancer, CMM, CMM Sectie Genomics and Bioinformatics, Child Health, Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, Kloosterman, Wigard P, CMM Groep Kaaij, Circulatory Health, CMM Groep Kloosterman, Genetica, CMM Groep De Ridder, CMM Groep Cuppen, Cancer, CMM, CMM Sectie Genomics and Bioinformatics, Child Health, Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, and Kloosterman, Wigard P
- Published
- 2017
29. Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control
- Author
-
Hubrecht Institute with UMC, Genetica, CMM, Genetica Klinische Genetica, Child Health, Genetica Groep Van Haaften, CMM Groep Burgering, Cancer, Genetica Sectie Genoomdiagnostiek, Medische Fysiologie, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Tessadori, Federico, Giltay, Jacques C., Hurst, Jane A., Massink, Maarten P., Duran, Karen, Vos, Harmjan R., van Es, Robert M., Scott, Richard H., Van Gassen, Koen L.I., Bakkers, Jeroen, Van Haaften, Gijs, Hubrecht Institute with UMC, Genetica, CMM, Genetica Klinische Genetica, Child Health, Genetica Groep Van Haaften, CMM Groep Burgering, Cancer, Genetica Sectie Genoomdiagnostiek, Medische Fysiologie, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Tessadori, Federico, Giltay, Jacques C., Hurst, Jane A., Massink, Maarten P., Duran, Karen, Vos, Harmjan R., van Es, Robert M., Scott, Richard H., Van Gassen, Koen L.I., Bakkers, Jeroen, and Van Haaften, Gijs
- Published
- 2017
30. PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function KIR2.1 channels, but increases channel protein expression
- Author
-
Medische Fysiologie, CMM, Genetica Groep Van Haaften, Child Health, CMM Sectie Genomics and Bioinformatics, Circulatory Health, Ji, Yuan, Veldhuis, Marlieke G., Zandvoort, Jantien, Romunde, Fee L, Houtman, Marien J C, Duran, Karen, Van Haaften, Gijs, Zangerl-Plessl, Eva Maria, Takanari, Hiroki, Stary-Weinzinger, Anna, Van Der Heyden, Marcel A.G., Medische Fysiologie, CMM, Genetica Groep Van Haaften, Child Health, CMM Sectie Genomics and Bioinformatics, Circulatory Health, Ji, Yuan, Veldhuis, Marlieke G., Zandvoort, Jantien, Romunde, Fee L, Houtman, Marien J C, Duran, Karen, Van Haaften, Gijs, Zangerl-Plessl, Eva Maria, Takanari, Hiroki, Stary-Weinzinger, Anna, and Van Der Heyden, Marcel A.G.
- Published
- 2017
31. Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
- Author
-
CMM, Genetica, Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg, CMM Sectie Genomics and Bioinformatics, Genetica Klinische Genetica, Kinderbewegingszorg patientenzorg, ZL Kinder Ner en Nec Medisch, Brain, Psychosociale zorg patientenzorg, Other research (not in main researchprogram), Arts-assistenten Kinderen, Onderzoek, Genetica Groep Van Haaften, Circulatory Health, Lipstein, Noa, Verhoeven-Duif, Nanda M., Michelassi, Francesco E., Calloway, Nathaniel, Van Hasselt, Peter M., Pienkowska, Katarzyna, Van Haaften, Gijs, Van Haelst, Mieke M., van Empelen, R., Cuppen, Inge, Van Teeseling, Heleen C., Evelein, Annemieke M V, Vorstman, Jacob A., Thoms, Sven, Jahn, Olaf, Duran, KJ, Monroe, Glen R., Ryan, Timothy A., Taschenberger, Holger, Dittman, Jeremy S., Rhee, Jeong Seop, Visser, Gepke, Jans, Judith J., Brose, Nils, CMM, Genetica, Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg, CMM Sectie Genomics and Bioinformatics, Genetica Klinische Genetica, Kinderbewegingszorg patientenzorg, ZL Kinder Ner en Nec Medisch, Brain, Psychosociale zorg patientenzorg, Other research (not in main researchprogram), Arts-assistenten Kinderen, Onderzoek, Genetica Groep Van Haaften, Circulatory Health, Lipstein, Noa, Verhoeven-Duif, Nanda M., Michelassi, Francesco E., Calloway, Nathaniel, Van Hasselt, Peter M., Pienkowska, Katarzyna, Van Haaften, Gijs, Van Haelst, Mieke M., van Empelen, R., Cuppen, Inge, Van Teeseling, Heleen C., Evelein, Annemieke M V, Vorstman, Jacob A., Thoms, Sven, Jahn, Olaf, Duran, KJ, Monroe, Glen R., Ryan, Timothy A., Taschenberger, Holger, Dittman, Jeremy S., Rhee, Jeong Seop, Visser, Gepke, Jans, Judith J., and Brose, Nils
- Published
- 2017
32. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
- Author
-
Genetica Klinische Genetica, Child Health, Genetica Groep Koeleman, Genetica Groep Van Haaften, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B, VanNoy, Grace, Stoler, Joan M, Amor, David J, Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J, Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Verbeek, Nienke E, van Haelst, Mieke M, de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, DDD Study, Genetica Klinische Genetica, Child Health, Genetica Groep Koeleman, Genetica Groep Van Haaften, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B, VanNoy, Grace, Stoler, Joan M, Amor, David J, Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J, Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Verbeek, Nienke E, van Haelst, Mieke M, de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, and DDD Study
- Published
- 2017
33. Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)
- Author
-
Genetica Groep Van Haaften, Circulatory Health, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Cancer, MS Hoofd-Hals Chirurgische Oncologie, CMM Groep Lens, Poli BT 9A-MFP, MS Mondziekten/Kaakchirurgie, Other research (not in main researchprogram), Zorgeenheid Plastische Chirurgie Medisch, MS Oogheelkunde, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Genetica, CMM Sectie Genomics and Bioinformatics, Monroe, Glen R, Kappen, Isabelle Fpm, Stokman, Marijn F, Terhal, Paulien A, van den Boogaard, Marie-José H, Savelberg, Sanne Mc, van der Veken, Lars T, van Es, Robert J J, Lens, Susanne M, Hengeveld, Rutger C, Creton, Marijn A, Janssen, Nard G, Mink van der Molen, Aebele B, Ebbeling, Michelle B, Giles, Rachel H, Knoers, Nine V, van Haaften, Gijs, Genetica Groep Van Haaften, Circulatory Health, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Cancer, MS Hoofd-Hals Chirurgische Oncologie, CMM Groep Lens, Poli BT 9A-MFP, MS Mondziekten/Kaakchirurgie, Other research (not in main researchprogram), Zorgeenheid Plastische Chirurgie Medisch, MS Oogheelkunde, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Genetica, CMM Sectie Genomics and Bioinformatics, Monroe, Glen R, Kappen, Isabelle Fpm, Stokman, Marijn F, Terhal, Paulien A, van den Boogaard, Marie-José H, Savelberg, Sanne Mc, van der Veken, Lars T, van Es, Robert J J, Lens, Susanne M, Hengeveld, Rutger C, Creton, Marijn A, Janssen, Nard G, Mink van der Molen, Aebele B, Ebbeling, Michelle B, Giles, Rachel H, Knoers, Nine V, and van Haaften, Gijs
- Published
- 2016
34. Mechanisms of therapy resistance in patient-derived xenograft models of brca1-deficient breast cancer
- Author
-
CMM Groep Kloosterman, Child Health, Cancer, Genetica Groep Van Haaften, CMM Groep Cuppen, Circulatory Health, Brain, CMM, Hubrecht Institute with UMC, CMM Sectie Genomics and Bioinformatics, Ter Brugge, Petra, Kristel, Petra, Van Der Burg, Eline, Boon, Ute, De Maaker, Michiel, Lips, Esther, Mulder, Lennart, De Ruiter, Julian, Moutinho, Catia, Gevensleben, Heidrun, Marangoni, Elisabetta, Majewski, Ian, Jozwiak, Katarzyna, Kloosterman, Wigard, Van Roosmalen, Markus, Duran, Karen, Hogervorst, Frans, Turner, Nick, Esteller, Manel, Cuppen, Edwin, Wesseling, Jelle, Jonkers, Jos, CMM Groep Kloosterman, Child Health, Cancer, Genetica Groep Van Haaften, CMM Groep Cuppen, Circulatory Health, Brain, CMM, Hubrecht Institute with UMC, CMM Sectie Genomics and Bioinformatics, Ter Brugge, Petra, Kristel, Petra, Van Der Burg, Eline, Boon, Ute, De Maaker, Michiel, Lips, Esther, Mulder, Lennart, De Ruiter, Julian, Moutinho, Catia, Gevensleben, Heidrun, Marangoni, Elisabetta, Majewski, Ian, Jozwiak, Katarzyna, Kloosterman, Wigard, Van Roosmalen, Markus, Duran, Karen, Hogervorst, Frans, Turner, Nick, Esteller, Manel, Cuppen, Edwin, Wesseling, Jelle, and Jonkers, Jos
- Published
- 2016
35. Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity
- Author
-
Genetica Groep Van Haaften, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Child Health, Cardiologie Arts-onderzoekers, CMM Groep Cuppen, Cancer, TN groep Joëls, Medische Fysiologie, Genetica, CMM Sectie Genomics and Bioinformatics, Genetica Klinische Genetica, Josifova, Dragana J, Monroe, Glen R, Tessadori, Federico, de Graaff, Esther, van der Zwaag, Bert, Mehta, Sarju G, Harakalova, Magdalena, Duran, Karen J, Savelberg, Sanne M C, Nijman, Isaäc J, Jungbluth, Heinz, Hoogenraad, Casper C, Bakkers, Jeroen, Knoers, Nine V, Firth, Helen V, Beales, Philip L, van Haaften, Gijs, van Haelst, Mieke M, DDD Study, Genetica Groep Van Haaften, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Child Health, Cardiologie Arts-onderzoekers, CMM Groep Cuppen, Cancer, TN groep Joëls, Medische Fysiologie, Genetica, CMM Sectie Genomics and Bioinformatics, Genetica Klinische Genetica, Josifova, Dragana J, Monroe, Glen R, Tessadori, Federico, de Graaff, Esther, van der Zwaag, Bert, Mehta, Sarju G, Harakalova, Magdalena, Duran, Karen J, Savelberg, Sanne M C, Nijman, Isaäc J, Jungbluth, Heinz, Hoogenraad, Casper C, Bakkers, Jeroen, Knoers, Nine V, Firth, Helen V, Beales, Philip L, van Haaften, Gijs, van Haelst, Mieke M, and DDD Study
- Published
- 2016
36. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease
- Author
-
Metabole ziekten patientenzorg, Intensive care patientenzorg, Other research (not in main researchprogram), Infection & Immunity, Cardiologie Arts-onderzoekers, Genetica Sectie Genoomdiagnostiek, Brain, Immuno/reuma patientenzorg, Child Health, Genetica, CMM Groep Kloosterman, Genetica Groep Van Haaften, CMM Groep Cuppen, Cancer, Genetica Medische Informatica, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, van der Crabben, Saskia N, Hennus, Marije P, McGregor, Grant A, Ritter, Deborah I, Nagamani, Sandesh C S, Wells, Owen S, Harakalova, Magdalena, Chinn, Ivan K, Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M, Terheggen-Lagro, Suzanne W, van Lieshout, Stef, van Roosmalen, Markus J, Renkens, Ivo, Duran, Karen, Nijman, Isaäc J., Kloosterman, Wigard P, Hennekam, Eric, Orange, Jordan S, van Hasselt, Peter M, Wheeler, David A, Palecek, Jan J, Lehmann, Alan R, Oliver, Antony W, Pearl, Laurence H, Plon, Sharon E, Murray, Johanne M, van Haaften, Gijs, Metabole ziekten patientenzorg, Intensive care patientenzorg, Other research (not in main researchprogram), Infection & Immunity, Cardiologie Arts-onderzoekers, Genetica Sectie Genoomdiagnostiek, Brain, Immuno/reuma patientenzorg, Child Health, Genetica, CMM Groep Kloosterman, Genetica Groep Van Haaften, CMM Groep Cuppen, Cancer, Genetica Medische Informatica, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, van der Crabben, Saskia N, Hennus, Marije P, McGregor, Grant A, Ritter, Deborah I, Nagamani, Sandesh C S, Wells, Owen S, Harakalova, Magdalena, Chinn, Ivan K, Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M, Terheggen-Lagro, Suzanne W, van Lieshout, Stef, van Roosmalen, Markus J, Renkens, Ivo, Duran, Karen, Nijman, Isaäc J., Kloosterman, Wigard P, Hennekam, Eric, Orange, Jordan S, van Hasselt, Peter M, Wheeler, David A, Palecek, Jan J, Lehmann, Alan R, Oliver, Antony W, Pearl, Laurence H, Plon, Sharon E, Murray, Johanne M, and van Haaften, Gijs
- Published
- 2016
37. 52 Genetic Loci Influencing Myocardial Mass
- Author
-
Experimentele Afd. Cardiologie 1, CMM Sectie Genomics and Bioinformatics, Circulatory Health, Cardiologie, Regenerative Medicine and Stem Cells, MS Interne Geneeskunde, CMM Groep Kaaij, Brain, Infection & Immunity, van der Harst, Pim, van Setten, Jessica, Verweij, Niek, Vogler, Georg, Franke, Lude, Maurano, Matthew T, Wang, Xinchen, Mateo Leach, Irene, Eijgelsheim, Mark, Sotoodehnia, Nona, Hayward, Caroline, Sorice, Rossella, Meirelles, Osorio, Lyytikäinen, Leo-Pekka, Polašek, Ozren, Tanaka, Toshiko, Arking, Dan E, Ulivi, Sheila, Trompet, Stella, Müller-Nurasyid, Martina, Smith, Albert V, Dörr, Marcus, Kerr, Kathleen F, Magnani, Jared W, Del Greco M, Fabiola, Zhang, Weihua, Nolte, Ilja M, Silva, Claudia T, Padmanabhan, Sandosh, Tragante Do O, V, Esko, Tõnu, Abecasis, Gonçalo R, Adriaens, Michiel E, Andersen, Karl, Barnett, Phil, Bis, Joshua C, Bodmer, Rolf, Buckley, Brendan M, Campbell, Harry, Cannon, Megan V, Chakravarti, Aravinda, Chen, Lin Y, Delitala, Alessandro, Devereux, Richard B, Doevendans, Pieter A, Dominiczak, Anna F, Ferrucci, Luigi, Ford, Ian, Gieger, Christian, Harris, Tamara B, Haugen, Eric, Heinig, Matthias, Hernandez, Dena G, Hillege, Hans L, Hirschhorn, Joel N, Hofman, Albert, Hubner, Norbert, Hwang, Shih-Jen, Iorio, Annamaria, Kähönen, Mika, Kellis, Manolis, Kolcic, Ivana, Kooner, Ishminder K, Kooner, Jaspal S, Kors, Jan A, Lakatta, Edward G, Lage, Kasper, Launer, Lenore J, Levy, Daniel, Lundby, Alicia, Macfarlane, Peter W, May, Dalit, Meitinger, Thomas, Metspalu, Andres, Nappo, Stefania, Naitza, Silvia, Neph, Shane, Nord, Alex S, Nutile, Teresa, Okin, Peter M, Olsen, Jesper V, Oostra, Ben A, Penninger, Josef M, Pennacchio, Len A, Pers, Tune H, Perz, Siegfried, Peters, Annette, Pinto, Yigal M, Pfeufer, Arne, Pilia, Maria Grazia, Pramstaller, Peter P, Prins, Bram P, Raitakari, Olli T, Raychaudhuri, Soumya, Rice, Ken M, Rossin, Elizabeth J, Rotter, Jerome I, Schafer, Sebastian, Schlessinger, David, Schmidt, Carsten O, Sehmi, Jobanpreet, Silljé, Herman H W, Sinagra, Gianfranco, Sinner, Moritz F, Slowikowski, Kamil, Soliman, Elsayed Z, Spector, Timothy D, Spiering, Wilko, Stamatoyannopoulos, John A, Stolk, Ronald P, Strauch, Konstantin, Tan, Sian-Tsung, Tarasov, Kirill V, Trinh, Bosco, Uitterlinden, Andre G, van den Boogaard, Malou, van Duijn, Cornelia M, van Gilst, Wiek H, Viikari, Jorma S, Visscher, Peter M, Vitart, Veronique, Völker, Uwe, Waldenberger, Melanie, Weichenberger, Christian X, Westra, Harm-Jan, Wijmenga, Cisca, Wolffenbuttel, Bruce H, Yang, Jian, Bezzina, Connie R, Munroe, Patricia B, Snieder, Harold, Wright, Alan F, Rudan, Igor, Boyer, Laurie A, Asselbergs, Folkert W, van Veldhuisen, Dirk J, Stricker, Bruno H, Psaty, Bruce M, Ciullo, Marina, Sanna, Serena, Lehtimäki, Terho, Wilson, James F, Bandinelli, Stefania, Alonso, Alvaro, Gasparini, Paolo, Jukema, J Wouter, Kääb, Stefan, Gudnason, Vilmundur, Felix, Stephan B, Heckbert, Susan R, de Boer, Rudolf A, Newton-Cheh, Christopher, Hicks, Andrew A, Chambers, John C, Jamshidi, Yalda, Visel, Axel, Christoffels, Vincent M, Isaacs, Aaron, Samani, Nilesh J, de Bakker, Paul I W, Experimentele Afd. Cardiologie 1, CMM Sectie Genomics and Bioinformatics, Circulatory Health, Cardiologie, Regenerative Medicine and Stem Cells, MS Interne Geneeskunde, CMM Groep Kaaij, Brain, Infection & Immunity, van der Harst, Pim, van Setten, Jessica, Verweij, Niek, Vogler, Georg, Franke, Lude, Maurano, Matthew T, Wang, Xinchen, Mateo Leach, Irene, Eijgelsheim, Mark, Sotoodehnia, Nona, Hayward, Caroline, Sorice, Rossella, Meirelles, Osorio, Lyytikäinen, Leo-Pekka, Polašek, Ozren, Tanaka, Toshiko, Arking, Dan E, Ulivi, Sheila, Trompet, Stella, Müller-Nurasyid, Martina, Smith, Albert V, Dörr, Marcus, Kerr, Kathleen F, Magnani, Jared W, Del Greco M, Fabiola, Zhang, Weihua, Nolte, Ilja M, Silva, Claudia T, Padmanabhan, Sandosh, Tragante Do O, V, Esko, Tõnu, Abecasis, Gonçalo R, Adriaens, Michiel E, Andersen, Karl, Barnett, Phil, Bis, Joshua C, Bodmer, Rolf, Buckley, Brendan M, Campbell, Harry, Cannon, Megan V, Chakravarti, Aravinda, Chen, Lin Y, Delitala, Alessandro, Devereux, Richard B, Doevendans, Pieter A, Dominiczak, Anna F, Ferrucci, Luigi, Ford, Ian, Gieger, Christian, Harris, Tamara B, Haugen, Eric, Heinig, Matthias, Hernandez, Dena G, Hillege, Hans L, Hirschhorn, Joel N, Hofman, Albert, Hubner, Norbert, Hwang, Shih-Jen, Iorio, Annamaria, Kähönen, Mika, Kellis, Manolis, Kolcic, Ivana, Kooner, Ishminder K, Kooner, Jaspal S, Kors, Jan A, Lakatta, Edward G, Lage, Kasper, Launer, Lenore J, Levy, Daniel, Lundby, Alicia, Macfarlane, Peter W, May, Dalit, Meitinger, Thomas, Metspalu, Andres, Nappo, Stefania, Naitza, Silvia, Neph, Shane, Nord, Alex S, Nutile, Teresa, Okin, Peter M, Olsen, Jesper V, Oostra, Ben A, Penninger, Josef M, Pennacchio, Len A, Pers, Tune H, Perz, Siegfried, Peters, Annette, Pinto, Yigal M, Pfeufer, Arne, Pilia, Maria Grazia, Pramstaller, Peter P, Prins, Bram P, Raitakari, Olli T, Raychaudhuri, Soumya, Rice, Ken M, Rossin, Elizabeth J, Rotter, Jerome I, Schafer, Sebastian, Schlessinger, David, Schmidt, Carsten O, Sehmi, Jobanpreet, Silljé, Herman H W, Sinagra, Gianfranco, Sinner, Moritz F, Slowikowski, Kamil, Soliman, Elsayed Z, Spector, Timothy D, Spiering, Wilko, Stamatoyannopoulos, John A, Stolk, Ronald P, Strauch, Konstantin, Tan, Sian-Tsung, Tarasov, Kirill V, Trinh, Bosco, Uitterlinden, Andre G, van den Boogaard, Malou, van Duijn, Cornelia M, van Gilst, Wiek H, Viikari, Jorma S, Visscher, Peter M, Vitart, Veronique, Völker, Uwe, Waldenberger, Melanie, Weichenberger, Christian X, Westra, Harm-Jan, Wijmenga, Cisca, Wolffenbuttel, Bruce H, Yang, Jian, Bezzina, Connie R, Munroe, Patricia B, Snieder, Harold, Wright, Alan F, Rudan, Igor, Boyer, Laurie A, Asselbergs, Folkert W, van Veldhuisen, Dirk J, Stricker, Bruno H, Psaty, Bruce M, Ciullo, Marina, Sanna, Serena, Lehtimäki, Terho, Wilson, James F, Bandinelli, Stefania, Alonso, Alvaro, Gasparini, Paolo, Jukema, J Wouter, Kääb, Stefan, Gudnason, Vilmundur, Felix, Stephan B, Heckbert, Susan R, de Boer, Rudolf A, Newton-Cheh, Christopher, Hicks, Andrew A, Chambers, John C, Jamshidi, Yalda, Visel, Axel, Christoffels, Vincent M, Isaacs, Aaron, Samani, Nilesh J, and de Bakker, Paul I W
- Published
- 2016
38. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
- Author
-
Neurogenetica, CMM Groep Cuppen, Cancer, Genetica Sectie Genoomdiagnostiek, Genetica Medische Informatica, Genetica Groep Van Haaften, Circulatory Health, Genetica Klinische Genetica, Child Health, Other research (not in main researchprogram), Nefrologie, CMM, Brain, CMM Sectie Genomics and Bioinformatics, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Genetica, Genetica Groep Van Tintelen, Nicolaou, Nayia, Pulit, Sara L, Nijman, Isaac J, Monroe, Glen R, Feitz, Wout F J, Schreuder, Michiel F, van Eerde, Albertien M, de Jong, Tom P V M, Giltay, Jacques C, van der Zwaag, Bert, Havenith, Marlies R, Zwakenberg, Susan, van der Zanden, Loes F M, Poelmans, Geert, Cornelissen, Elisabeth A M, Lilien, Marc R, Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A L M, Cuppen, Edwin, Bongers, Ernie M H F, Giles, Rachel H, Knoers, Nine V A M, Renkema, Kirsten Y, Neurogenetica, CMM Groep Cuppen, Cancer, Genetica Sectie Genoomdiagnostiek, Genetica Medische Informatica, Genetica Groep Van Haaften, Circulatory Health, Genetica Klinische Genetica, Child Health, Other research (not in main researchprogram), Nefrologie, CMM, Brain, CMM Sectie Genomics and Bioinformatics, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Genetica, Genetica Groep Van Tintelen, Nicolaou, Nayia, Pulit, Sara L, Nijman, Isaac J, Monroe, Glen R, Feitz, Wout F J, Schreuder, Michiel F, van Eerde, Albertien M, de Jong, Tom P V M, Giltay, Jacques C, van der Zwaag, Bert, Havenith, Marlies R, Zwakenberg, Susan, van der Zanden, Loes F M, Poelmans, Geert, Cornelissen, Elisabeth A M, Lilien, Marc R, Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A L M, Cuppen, Edwin, Bongers, Ernie M H F, Giles, Rachel H, Knoers, Nine V A M, and Renkema, Kirsten Y
- Published
- 2016
39. Tissue-specific mutation accumulation in human adult stem cells during life
- Author
-
CMM, CMM Groep Cuppen, Hubrecht Institute with UMC, Genetica Sectie Genoomdiagnostiek, Genetica Medische Informatica, MDL onderzoek 3, Child Health, MDL onderzoek 2, Regenerative Medicine and Stem Cells, Zorg en O&O, Infection & Immunity, Verpleegafd Vaatchirurgie D4 Oost, AIOS Anesthesiologie, CMM Sectie Molecular Cancer Research, Cancer, Circulatory Health, Brain, CMM Sectie Genomics and Bioinformatics, Blokzijl, Francis, De Ligt, Joep, Jager, Myrthe, Sasselli, Valentina, Roerink, Sophie, Sasaki, Nobuo, Huch, Meritxell, Boymans, Sander, Kuijk, Ewart, Prins, Pjotr, Nijman, Isaäc, Martincorena, Inigo, Mokry, Michal, Wiegerinck, Caroline L., Middendorp, Sabine, Sato, Toshiro, Schwank, Gerald, Nieuwenhuis, Edward E S, Verstegen, Monique M A, Van Der Laan, Luc J W, De Jonge, Jeroen, Ijzermans, Jan N M, Vries, Robert G., van de Wetering, Marc, Stratton, Michael R., Clevers, Hans, Cuppen, Edwin, Van Boxtel, Ruben, CMM, CMM Groep Cuppen, Hubrecht Institute with UMC, Genetica Sectie Genoomdiagnostiek, Genetica Medische Informatica, MDL onderzoek 3, Child Health, MDL onderzoek 2, Regenerative Medicine and Stem Cells, Zorg en O&O, Infection & Immunity, Verpleegafd Vaatchirurgie D4 Oost, AIOS Anesthesiologie, CMM Sectie Molecular Cancer Research, Cancer, Circulatory Health, Brain, CMM Sectie Genomics and Bioinformatics, Blokzijl, Francis, De Ligt, Joep, Jager, Myrthe, Sasselli, Valentina, Roerink, Sophie, Sasaki, Nobuo, Huch, Meritxell, Boymans, Sander, Kuijk, Ewart, Prins, Pjotr, Nijman, Isaäc, Martincorena, Inigo, Mokry, Michal, Wiegerinck, Caroline L., Middendorp, Sabine, Sato, Toshiro, Schwank, Gerald, Nieuwenhuis, Edward E S, Verstegen, Monique M A, Van Der Laan, Luc J W, De Jonge, Jeroen, Ijzermans, Jan N M, Vries, Robert G., van de Wetering, Marc, Stratton, Michael R., Clevers, Hans, Cuppen, Edwin, and Van Boxtel, Ruben
- Published
- 2016
40. Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
- Author
-
Genetica, CMM, Genetica Groep Van Haaften, Circulatory Health, Interne Geneeskunde Vasculaire, Child Health, Genetica Klinische Genetica, Metabole ziekten patientenzorg, Genetica Sectie Metabole Diagnostiek, Other research (not in main researchprogram), CMM Groep Cuppen, Cancer, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Monroe, Glen R., Frederix, Gerardus W., Savelberg, Sanne M C, De Vries, Tamar I., Duran, Karen J., Van Der Smagt, Jasper J., Terhal, Paulien A., Van Hasselt, Peter M., Kroes, Hester Y., Verhoeven-Duif, Nanda M., Nijman, Isaäc J., Carbo, Ellen C., Van Gassen, Koen L., Knoers, Nine V., Hövels, Anke M., Van Haelst, Mieke M., Visser, Gepke, Van Haaften, Gijs, Genetica, CMM, Genetica Groep Van Haaften, Circulatory Health, Interne Geneeskunde Vasculaire, Child Health, Genetica Klinische Genetica, Metabole ziekten patientenzorg, Genetica Sectie Metabole Diagnostiek, Other research (not in main researchprogram), CMM Groep Cuppen, Cancer, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Monroe, Glen R., Frederix, Gerardus W., Savelberg, Sanne M C, De Vries, Tamar I., Duran, Karen J., Van Der Smagt, Jasper J., Terhal, Paulien A., Van Hasselt, Peter M., Kroes, Hester Y., Verhoeven-Duif, Nanda M., Nijman, Isaäc J., Carbo, Ellen C., Van Gassen, Koen L., Knoers, Nine V., Hövels, Anke M., Van Haelst, Mieke M., Visser, Gepke, and Van Haaften, Gijs
- Published
- 2016
41. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
- Author
-
Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Genetica Groep Van Haaften, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Weiss, Karin, Terhal, Paulien A, Cohen, Lior, Bruccoleri, Michael, Irving, Melita, Martinez, Ariel F, Rosenfeld, Jill A, Machol, Keren, Yang, Yaping, Liu, Pengfei, Walkiewicz, Magdalena, Beuten, Joke, Gomez-Ospina, Natalia, Haude, Katrina, Fong, Chin-To, Enns, Gregory M, Bernstein, Jonathan A, Fan, Judith, Gotway, Garrett, Ghorbani, Mohammad, van Gassen, Koen, Monroe, Glen R, van Haaften, Gijs, Basel-Vanagaite, Lina, Yang, Xiang-Jiao, Campeau, Philippe M, Muenke, Maximilian, DDD Study, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Genetica Groep Van Haaften, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Weiss, Karin, Terhal, Paulien A, Cohen, Lior, Bruccoleri, Michael, Irving, Melita, Martinez, Ariel F, Rosenfeld, Jill A, Machol, Keren, Yang, Yaping, Liu, Pengfei, Walkiewicz, Magdalena, Beuten, Joke, Gomez-Ospina, Natalia, Haude, Katrina, Fong, Chin-To, Enns, Gregory M, Bernstein, Jonathan A, Fan, Judith, Gotway, Garrett, Ghorbani, Mohammad, van Gassen, Koen, Monroe, Glen R, van Haaften, Gijs, Basel-Vanagaite, Lina, Yang, Xiang-Jiao, Campeau, Philippe M, Muenke, Maximilian, and DDD Study
- Published
- 2016
42. Epigenomic annotation of gene regulatory alterations during evolution of the primate brain
- Author
-
Hubrecht Institute with UMC, CMM Groep Cuppen, CMM Sectie Genomics and Bioinformatics, Cancer, Brain, Child Health, Divisie Biomedische Genetica, Vermunt, Marit W., Tan, Sander C., Castelijns, Bas, Geeven, Geert, Reinink, Peter, de Bruijn, Ewart, Kondova, Ivanela, Persengiev, Stephan, Bontrop, Ronald, Cuppen, Edwin, de laat, Wouter, Creyghton, Menno P., Netherlands Brain Bank, Hubrecht Institute with UMC, CMM Groep Cuppen, CMM Sectie Genomics and Bioinformatics, Cancer, Brain, Child Health, Divisie Biomedische Genetica, Vermunt, Marit W., Tan, Sander C., Castelijns, Bas, Geeven, Geert, Reinink, Peter, de Bruijn, Ewart, Kondova, Ivanela, Persengiev, Stephan, Bontrop, Ronald, Cuppen, Edwin, de laat, Wouter, Creyghton, Menno P., and Netherlands Brain Bank
- Published
- 2016
43. Deficiency or inhibition of lysophosphatidic acid receptor 1 protects against hyperoxia-induced lung injury in neonatal rats
- Author
-
CMM Groep Cuppen, CMM Sectie Genomics and Bioinformatics, Cancer, Hubrecht Institute with UMC, Brain, Child Health, Chen, X., Walther, F. J., van Boxtel, R., Laghmani, E. H., Sengers, R. M. A., Folkerts, G., DeRuiter, M. C., Cuppen, E., Wagenaar, G. T. M., CMM Groep Cuppen, CMM Sectie Genomics and Bioinformatics, Cancer, Hubrecht Institute with UMC, Brain, Child Health, Chen, X., Walther, F. J., van Boxtel, R., Laghmani, E. H., Sengers, R. M. A., Folkerts, G., DeRuiter, M. C., Cuppen, E., and Wagenaar, G. T. M.
- Published
- 2016
44. Generation and characterization of rat liver stem cell lines and their engraftment in a rat model of liver failure
- Author
-
CMM Groep Cuppen, Hubrecht Institute with UMC, CMM Sectie Molecular Cancer Research, Cancer, Regenerative Medicine and Stem Cells, Child Health, CMM Sectie Genomics and Bioinformatics, Brain, Kuijk, Ewart W., Rasmussen, Shauna, Blokzijl, Francis, Huch, Meritxell, Gehart, Helmuth, Toonen, Pim, Begthel, Harry, Clevers, Hans, Geurts, Aron M., Cuppen, Edwin, CMM Groep Cuppen, Hubrecht Institute with UMC, CMM Sectie Molecular Cancer Research, Cancer, Regenerative Medicine and Stem Cells, Child Health, CMM Sectie Genomics and Bioinformatics, Brain, Kuijk, Ewart W., Rasmussen, Shauna, Blokzijl, Francis, Huch, Meritxell, Gehart, Helmuth, Toonen, Pim, Begthel, Harry, Clevers, Hans, Geurts, Aron M., and Cuppen, Edwin
- Published
- 2016
45. Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material
- Author
-
Pathologie Laboratorium diagnostiek, Cancer, Arts-assistenten Radiotherapie, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, CMM Sectie Genomics and Bioinformatics, Brain, Child Health, CMM, Genetica, Externen Med. Onco, Pathologie, Infection & Immunity, Circulatory Health, MS Medische Oncologie, Other research (not in main researchprogram), de Leng, Wendy W J, Gadellaa-Van Hooijdonk, Christa G., Barendregt-Smouter, Françoise A S, Koudijs, Marco J., Nijman, Ies, Hinrichs, John W.J., Cuppen, Edwin, van Lieshout, Stef, Loberg, Robert D., De Jonge, Maja, Voest, Emile E, De Weger, Roel A., Steeghs, Neeltje, Langenberg, Marlies H G, Sleijfer, Stefan, Willems, Stefan M., Lolkema, Martijn P., Pathologie Laboratorium diagnostiek, Cancer, Arts-assistenten Radiotherapie, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, CMM Sectie Genomics and Bioinformatics, Brain, Child Health, CMM, Genetica, Externen Med. Onco, Pathologie, Infection & Immunity, Circulatory Health, MS Medische Oncologie, Other research (not in main researchprogram), de Leng, Wendy W J, Gadellaa-Van Hooijdonk, Christa G., Barendregt-Smouter, Françoise A S, Koudijs, Marco J., Nijman, Ies, Hinrichs, John W.J., Cuppen, Edwin, van Lieshout, Stef, Loberg, Robert D., De Jonge, Maja, Voest, Emile E, De Weger, Roel A., Steeghs, Neeltje, Langenberg, Marlies H G, Sleijfer, Stefan, Willems, Stefan M., and Lolkema, Martijn P.
- Published
- 2016
46. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations
- Author
-
Immuno/reuma patientenzorg, Infection & Immunity, Child Health, ZL Kinder Ner en Nec Medisch, Brain, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, MS Reumatologie/Immunologie/Infectie, MS Dermatologie/Allergologie, Other research (not in main researchprogram), Haematologie, Regenerative Medicine and Stem Cells, CTI Lab support, Genetica Sectie Genoomdiagnostiek, van Montfrans, Joris M., Hartman, Esther A R, Braun, Kees P J, Hennekam, Eric A M, Hak, Elisabeth A., Nederkoorn, Paul J., Westendorp, Willeke F., Bredius, Robbert G M, Kollen, Wouter J W, Schölvinck, Elisabeth H., Elizabeth Legger, G., Meyts, Isabelle, Liston, Adrian, Lichtenbelt, Klaske D., Giltay, Jacques C., Van Haaften, Gijs, De Vries Simons, Gaby M., Leavis, Helen, Sanders, Cornelis J G, Bierings, Marc B., Nierkens, Stefan, Van Gijn, Marielle E., Immuno/reuma patientenzorg, Infection & Immunity, Child Health, ZL Kinder Ner en Nec Medisch, Brain, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, MS Reumatologie/Immunologie/Infectie, MS Dermatologie/Allergologie, Other research (not in main researchprogram), Haematologie, Regenerative Medicine and Stem Cells, CTI Lab support, Genetica Sectie Genoomdiagnostiek, van Montfrans, Joris M., Hartman, Esther A R, Braun, Kees P J, Hennekam, Eric A M, Hak, Elisabeth A., Nederkoorn, Paul J., Westendorp, Willeke F., Bredius, Robbert G M, Kollen, Wouter J W, Schölvinck, Elisabeth H., Elizabeth Legger, G., Meyts, Isabelle, Liston, Adrian, Lichtenbelt, Klaske D., Giltay, Jacques C., Van Haaften, Gijs, De Vries Simons, Gaby M., Leavis, Helen, Sanders, Cornelis J G, Bierings, Marc B., Nierkens, Stefan, and Van Gijn, Marielle E.
- Published
- 2016
47. Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population
- Author
-
Child Health, Genetica Groep Koeleman, CMM Sectie Genomics and Bioinformatics, Experimentele Afd. Cardiologie 1, Cardiologie, Circulatory Health, Brain, de Kovel, Carolien G, Mulder, Flip, van Setten, Jessica, van 't Slot, Ruben, Al-Rubaish, Abdullah, Alshehri, Abdullah M, Al Faraidy, Khalid, Al-Ali, Abdullah, Al-Madan, Mohammed, Al Aqaili, Issa, Larbi, Emmanuel, Al-Ali, Rudaynah, Alzahrani, Alhusain, Asselbergs, Folkert W, Koeleman, Bobby P C, Al-Ali, Amein, Child Health, Genetica Groep Koeleman, CMM Sectie Genomics and Bioinformatics, Experimentele Afd. Cardiologie 1, Cardiologie, Circulatory Health, Brain, de Kovel, Carolien G, Mulder, Flip, van Setten, Jessica, van 't Slot, Ruben, Al-Rubaish, Abdullah, Alshehri, Abdullah M, Al Faraidy, Khalid, Al-Ali, Abdullah, Al-Madan, Mohammed, Al Aqaili, Issa, Larbi, Emmanuel, Al-Ali, Rudaynah, Alzahrani, Alhusain, Asselbergs, Folkert W, Koeleman, Bobby P C, and Al-Ali, Amein
- Published
- 2016
48. KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies
- Author
-
Genetica Klinische Genetica, Nefrologie, Child Health, CMM Groep Cuppen, Cancer, Genetica Sectie Genoomdiagnostiek, Genetica Medische Informatica, CMM, Circulatory Health, Brain, Hubrecht Institute with UMC, CMM Sectie Genomics and Bioinformatics, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Genetica Groep Van Tintelen, Genetica, Stokman, M., Oud, M., Van Reeuwijk, J., Lilien, M., Van De Kar, N., Nijman, I., Gilissen, C., Kroes, H. Y., Bongers, E., Geijsen, N., Kamsteeg, E., Cuppen, E., Roepman, R., Giles, R., Renkema, K., Arts, H., Knoers, N., Genetica Klinische Genetica, Nefrologie, Child Health, CMM Groep Cuppen, Cancer, Genetica Sectie Genoomdiagnostiek, Genetica Medische Informatica, CMM, Circulatory Health, Brain, Hubrecht Institute with UMC, CMM Sectie Genomics and Bioinformatics, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Genetica Groep Van Tintelen, Genetica, Stokman, M., Oud, M., Van Reeuwijk, J., Lilien, M., Van De Kar, N., Nijman, I., Gilissen, C., Kroes, H. Y., Bongers, E., Geijsen, N., Kamsteeg, E., Cuppen, E., Roepman, R., Giles, R., Renkema, K., Arts, H., and Knoers, N.
- Published
- 2015
49. Lack of Major Genome Instability in Tumors of p53 Null Rats
- Author
-
CMM Groep Cuppen, CMM Sectie Genomics and Bioinformatics, Cancer, Hubrecht Institute with UMC, Child Health, Hermsen, Roel, Toonen, Pim, Kuijk, Ewart, Youssef, Sameh A., Kuiper, Raoul, van Heesch, Sebastiaan, de Bruin, Alain, Cuppen, Edwin, Simonis, Marieke, CMM Groep Cuppen, CMM Sectie Genomics and Bioinformatics, Cancer, Hubrecht Institute with UMC, Child Health, Hermsen, Roel, Toonen, Pim, Kuijk, Ewart, Youssef, Sameh A., Kuiper, Raoul, van Heesch, Sebastiaan, de Bruin, Alain, Cuppen, Edwin, and Simonis, Marieke
- Published
- 2015
50. Rb and FZR1/Cdh1 determine CDK4/6-cyclin D requirement in C. elegans and human cancer cells
- Author
-
Hubrecht Institute with UMC, CMM Sectie Genomics and Bioinformatics, Cancer, Child Health, The, Inge, Ruijtenberg, Suzan, Bouchet, Benjamin P., Cristobal, Alba, Prinsen, Martine B W, Van Mourik, Tim, Koreth, John, Xu, Huihong, Heck, Albert J R, Akhmanova, Anna, Cuppen, Edwin, Boxem, Mike, Muñoz, Javier, Van Den Heuvel, Sander, Hubrecht Institute with UMC, CMM Sectie Genomics and Bioinformatics, Cancer, Child Health, The, Inge, Ruijtenberg, Suzan, Bouchet, Benjamin P., Cristobal, Alba, Prinsen, Martine B W, Van Mourik, Tim, Koreth, John, Xu, Huihong, Heck, Albert J R, Akhmanova, Anna, Cuppen, Edwin, Boxem, Mike, Muñoz, Javier, and Van Den Heuvel, Sander
- Published
- 2015
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.