RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
Shintaku, Jonathan, Pernice, Wolfgang M, Eyaid, Wafaa, Gc, Jeevan B, Brown, Zuben P, Juanola-Falgarona, Marti, Torres-Torronteras, Javier, Sommerville, Ewen W, Hellebrekers, Debby Mei, Blakely, Emma L, Donaldson, Alan, van de Laar, Ingrid Mbh, Leu, Cheng-Shiun, Marti, Ramon, Frank, Joachim, Tanji, Kurenai, Koolen, David A, Rodenburg, Richard J, Chinnery, Patrick F, Smeets, H J M, Gorman, Gráinne S, Bonnen, Penelope E, Taylor, Robert W, Hirano, Michio
Published in The Journal of clinical investigation (01.07.2022)
Published in The Journal of clinical investigation (01.07.2022)
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Journal Article
Identification of epigenetically silenced genes in tumor endothelial cells
HELLEBREKERS, Debby M. E. I, MELOTTE, Veerle, VIRE, Emmanuelle, LANGENKAMP, Elise, MOLEMA, Grietje, FUKS, Francois, HERMAN, James G, VAN CRIEKINGE, Wim, GRIFFIOEN, Arjan W, VAN ENGELAND, Manon
Published in Cancer research (Chicago, Ill.) (01.05.2007)
Published in Cancer research (Chicago, Ill.) (01.05.2007)
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Journal Article
Epigenetic regulation of tumor endothelial cell anergy : Silencing of intercellular adhesion molecule-1 by histone modifications
HELLEBREKERS, Debby M. E. I, CASTERMANS, Karolien, GRIFFIOEN, Arjan W, VIRE, Emmanuelle, DINGS, Ruud P. M, HOEBERS, Nicole T. H, MAYO, Kevin H, OUDE EGBRINK, Mirjam G. A, MOLEMA, Grietje, FUKS, Francois, VAN ENGELAND, Manon
Published in Cancer research (Chicago, Ill.) (15.11.2006)
Published in Cancer research (Chicago, Ill.) (15.11.2006)
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Journal Article
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans
Le, Thuy-Linh, Galmiche, Louise, Levy, Jonathan, Suwannarat, Pim, Hellebrekers, Debby Mei, Morarach, Khomgrit, Boismoreau, Franck, Theunissen, Tom Ej, Lefebvre, Mathilde, Pelet, Anna, Martinovic, Jelena, Gelot, Antoinette, Guimiot, Fabien, Calleroz, Amanda, Gitiaux, Cyril, Hully, Marie, Goulet, Olivier, Chardot, Christophe, Drunat, Severine, Capri, Yline, Bole-Feysot, Christine, Nitschké, Patrick, Whalen, Sandra, Mouthon, Linda, Babcock, Holly E, Hofstra, Robert, de Coo, Irenaeus Fm, Tabet, Anne-Claude, Molina, Thierry J, Keren, Boris, Brooks, Alice, Smeets, Hubert Jm, Marklund, Ulrika, Gordon, Christopher T, Lyonnet, Stanislas, Amiel, Jeanne, Bondurand, Nadège
Published in The Journal of clinical investigation (15.03.2021)
Published in The Journal of clinical investigation (15.03.2021)
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Journal Article
GATA4 and GATA5 are Potential Tumor Suppressors and Biomarkers in Colorectal Cancer
Hellebrekers, Debby M E I, Lentjes, Marjolein H F M, van den Bosch, Sandra M, Melotte, Veerle, Wouters, Kim A D, Daenen, Kathleen L J, Smits, Kim M, Akiyama, Yoshimitsu, Yuasa, Yasuhito, Sanduleanu, Silvia, Khalid-de Bakker, Carolina A J, Jonkers, Daisy, Weijenberg, Matty P, Louwagie, Joost, van Criekinge, Wim, Carvalho, Beatriz, Meijer, Gerrit A, Baylin, Stephen B, Herman, James G, de Bruïne, Adriaan P, van Engeland, Manon
Published in Clinical cancer research (15.06.2009)
Published in Clinical cancer research (15.06.2009)
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Journal Article
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing
Theunissen, Tom E.J., MSc, Sallevelt, Suzanne C.E.H., MD, Hellebrekers, Debby M.E.I., PhD, de Koning, Bart, PhD, Hendrickx, Alexandra T.M., BASc, van den Bosch, Bianca J.C., PhD, Kamps, Rick, BASc, Schoonderwoerd, Kees, PhD, Szklarczyk, Radek, PhD, Mulder-Den Hartog, Elvira N.M., MSc, de Coo, Irenaeus F.M., MD, PhD, Smeets, Hubert J.M., PhD
Published in The Journal of pediatrics (01.03.2017)
Published in The Journal of pediatrics (01.03.2017)
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Journal Article
Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report
Eleftheriadou, Maria, Medici‐ van den Herik, Evita, Stuurman, Kyra, Bever, Yolande, Hellebrekers, Debby M. E. I., Slegtenhorst, Marjon, Ruijter, George, Barakat, Tahsin Stefan
Published in Molecular genetics & genomic medicine (01.02.2021)
Published in Molecular genetics & genomic medicine (01.02.2021)
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Journal Article
Angiostatic activity of DNA methyltransferase inhibitors
Hellebrekers, Debby M E I, Jair, Kam-Wing, Viré, Emmanuelle, Eguchi, Sayaka, Hoebers, Nicole T H, Fraga, Mario F, Esteller, Manel, Fuks, François, Baylin, Stephen B, van Engeland, Manon, Griffioen, Arjan W
Published in Molecular cancer therapeutics (01.02.2006)
Published in Molecular cancer therapeutics (01.02.2006)
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Journal Article
A mutation update for the FLNC gene in myopathies and cardiomyopathies
Verdonschot, Job A. J., Vanhoutte, Els K., Claes, Godelieve R. F., Helderman‐van den Enden, Apollonia T. J. M., Hoeijmakers, Janneke G. J., Hellebrekers, Debby M. E. I., Haan, Amber, Christiaans, Imke, Lekanne Deprez, Ronald H., Boen, Hanne M., Craenenbroeck, Emeline M., Loeys, Bart L., Hoedemaekers, Yvonne M., Marcelis, Carlo, Kempers, Marlies, Brusse, Esther, Waning, Jaap I., Baas, Annette F., Dooijes, Dennis, Asselbergs, Folkert W., Barge‐Schaapveld, Daniela Q. C. M., Koopman, Pieter, Wijngaard, Arthur, Heymans, Stephane R. B., Krapels, Ingrid P. C., Brunner, Han G.
Published in Human mutation (01.06.2020)
Published in Human mutation (01.06.2020)
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Journal Article
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy
Stroeks, Sophie L. V. M., Hellebrekers, Debby M. E. I., Claes, Godelieve R. F., Tayal, Upasana, Krapels, Ingrid P. C., Vanhoutte, Els K., van den Wijngaard, Arthur, Henkens, Michiel T. H. M., Ware, James S., Heymans, Stephane R. B., Brunner, Han G., Verdonschot, Job A. J.
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
DTYMK is essential for genome integrity and neuronal survival
Vanoevelen, Jo M., Bierau, Jörgen, Grashorn, Janine C., Lambrichs, Ellen, Kamsteeg, Erik-Jan, Bok, Levinus A., Wevers, Ron A., van der Knaap, Marjo S., Bugiani, Marianna, Frisk, Junmei Hu, Colnaghi, Rita, O’Driscoll, Mark, Hellebrekers, Debby M. E. I., Rodenburg, Richard, Ferreira, Carlos R., Brunner, Han G., van den Wijngaard, Arthur, Abdel-Salam, Ghada M. H., Wang, Liya, Stumpel, Constance T. R. M.
Published in Acta neuropathologica (01.02.2022)
Published in Acta neuropathologica (01.02.2022)
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Journal Article
Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations
Joosten, Isis B T, Hellebrekers, Debby M E I, de Greef, Bianca T A, Smeets, Hubert J M, de Die-Smulders, Christine E M, Faber, Catharina G, Gerrits, Monique M
Published in European journal of human genetics : EJHG (01.07.2020)
Published in European journal of human genetics : EJHG (01.07.2020)
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Journal Article
De novo mtDNA point mutations are common and have a low recurrence risk
Sallevelt, Suzanne C E H, de Die-Smulders, Christine E M, Hendrickx, Alexandra T M, Hellebrekers, Debby M E I, de Coo, Irenaeus F M, Alston, Charlotte L, Knowles, Charlotte, Taylor, Robert W, McFarland, Robert, Smeets, Hubert J M
Published in Journal of medical genetics (01.02.2017)
Published in Journal of medical genetics (01.02.2017)
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Journal Article
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
Theunissen, Tom E J, Nguyen, Minh, Kamps, Rick, Hendrickx, Alexandra T, Sallevelt, Suzanne C E H, Gottschalk, Ralph W H, Calis, Chantal M, Stassen, Alphons P M, de Koning, Bart, Mulder-Den Hartog, Elvira N M, Schoonderwoerd, Kees, Fuchs, Sabine A, Hilhorst-Hofstee, Yvonne, de Visser, Marianne, Vanoevelen, Jo, Szklarczyk, Radek, Gerards, Mike, de Coo, Irenaeus F M, Hellebrekers, Debby M E I, Smeets, Hubert J M
Published in Frontiers in genetics (12.10.2018)
Published in Frontiers in genetics (12.10.2018)
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Journal Article
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype
Hellebrekers, Debby M E I, Sallevelt, Suzanne C E H, Theunissen, Tom E J, Hendrickx, Alexandra T M, Gottschalk, Ralph W, Hoeijmakers, Janneke G J, Habets, Daphna D, Bierau, Jörgen, Schoonderwoerd, Kees G, Smeets, Hubert J M
Published in European journal of human genetics : EJHG (01.06.2017)
Published in European journal of human genetics : EJHG (01.06.2017)
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Journal Article
Dual targeting of epigenetic therapy in cancer
Hellebrekers, Debby M.E.I., Griffioen, Arjan W., van Engeland, Manon
Published in Biochimica et biophysica acta (2007)
Published in Biochimica et biophysica acta (2007)
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Journal Article
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease
Kamps, Rick, Szklarczyk, Radek, Theunissen, Tom E, Hellebrekers, Debby M E I, Sallevelt, Suzanne C E H, Boesten, Iris B, de Koning, Bart, van den Bosch, Bianca J, Salomons, Gajja S, Simas-Mendes, Marisa, Verdijk, Rob, Schoonderwoerd, Kees, de Coo, Irenaeus F M, Vanoevelen, Jo M, Smeets, Hubert J M
Published in European journal of human genetics : EJHG (01.04.2018)
Published in European journal of human genetics : EJHG (01.04.2018)
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Journal Article
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency
Guo, Le, Engelen, Bob P H, Hemel, Irene M G M, de Coo, Irenaeus F M, Vreeburg, Maaike, Sallevelt, Suzanne C E H, Hellebrekers, Debby M E I, Jacobs, Ed H, Sadeghi-Niaraki, Farah, van Tienen, Florence H J, Smeets, Hubert J M, Gerards, Mike
Published in European journal of human genetics : EJHG (01.12.2021)
Published in European journal of human genetics : EJHG (01.12.2021)
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Journal Article
Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions
Guo, Le, Govindaraj, Periyasamy, Kievit, Mariëlle, de Coo, Irenaeus F.M., Gerards, Mike, Hellebrekers, Debby M.E.I., Stassen, Alphons P.M., Gayathri, Narayanappa, Taly, Arun B, Sankaran, Bindu Parayil, Smeets, Hubert J.M.
Published in Neuromuscular disorders : NMD (01.09.2021)
Published in Neuromuscular disorders : NMD (01.09.2021)
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Journal Article
N-Myc Downstream-Regulated Gene 4 (NDRG4): A Candidate Tumor Suppressor Gene and Potential Biomarker for Colorectal Cancer
Melotte, Veerle, Lentjes, Marjolein H. F. M., van den Bosch, Sandra M., Hellebrekers, Debby M. E. I., de Hoon, Joep P. J., Wouters, Kim A. D., Daenen, Kathleen L. J., Partouns-Hendriks, Iris E. J. M., Stessels, Filip, Louwagie, Joost, Smits, Kim M., Weijenberg, Matty P., Sanduleanu, Silvia, Khalid-de Bakker, Carolina A. J., Oort, Frank A., Meijer, Gerrit A., Jonkers, Daisy M. A. E., Herman, James G., de Bruïne, Adriaan P., van Engeland, Manon
Published in JNCI : Journal of the National Cancer Institute (01.07.2009)
Published in JNCI : Journal of the National Cancer Institute (01.07.2009)
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