Bekim Sadikovic

Research output

Research output per year 2022 2023 2024 2024

• 13 Article
• 1 Comment/Letter to the editor
• 1 Erratum/Corrigendum
• 1 Review article

Research output per year

Research output per year

Search results

• 2024

  Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

  Sabbagh, Q., Haghshenas, S., Piard, J., Trouvé, C., Amiel, J., Attié-Bitach, T., Balci, T., Barat-Houari, M., Belonis, A., Boute, O., Brightman, D. S., Bruel, A-L., Caraffi, S. G., Chatron, N., Collet, C., Dufour, W., Edery, P., Fong, C-T., Fusco, C., Gatinois, V., & 46 othersGouy, E., Guerrot, A-M., Heide, S., Joshi, A., Karp, N., Keren, B., Lesieur-Sebellin, M., Levy, J., Levy, M. A., Lozano, C., Lyonnet, S., Margot, H., Marzin, P., McConkey, H., Michaud, V., Nicolas, G., Nizard, M., Paulet, A., Peluso, F., Pernin, V., Perrin, L., Philippe, C., Prasad, C., Prasad, M., Relator, R., Rio, M., Rondeau, S., Ruault, V., Ruiz-Pallares, N., Sanchez, E., Shears, D., Siu, V. M., Sorlin, A., Tedder, M., Tharreau, M., Mau-Them, F. T., van der Laan, L., van Gils, J., Verloes, A., Whalen, S., Willems, M., Yauy, K. V., Zuntini, R., Kerkhof, J., Sadikovic, B. & Geneviève, D., 1 Jan 2024, In: Genetics in medicine. 26, 1, 101007.

  Research output: Contribution to journal › Article › Academic › peer-review
  2 Citations (Scopus)

• Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

  Kerkhof, J., Rastin, C., Levy, M. A., Relator, R., McConkey, H., Demain, L., Dominguez-Garrido, E., Kaat, L. D., Houge, S. D., DuPont, B. R., Fee, T., Fletcher, R. S., Gokhale, D., Haukanes, B. I., Henneman, P., Hilton, S., Hilton, B. A., Jenkinson, S., Lee, J. A., Louie, R. J., & 15 othersMotazacker, M. M., Rzasa, J., Stevenson, R. E., Plomp, A., van der Laan, L., van der Smagt, J., Walden, K. K., Banka, S., Mannens, M., Skinner, S. A., Friez, M. J., Campbell, C., Tedder, M. L., Alders, M. & Sadikovic, B., 1 May 2024, In: Genetics in medicine. 26, 5, 101075.

  Research output: Contribution to journal › Article › Academic › peer-review
  1 Citation (Scopus)

• DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7

  van der Laan, L., Karimi, K., Rooney, K., Lauffer, P., McConkey, H., Caro, P., Relator, R., Levy, M. A., Bhai, P., Mignot, C., Keren, B., Briuglia, S., Sobering, A. K., Li, D., Vissers, L. E. L. M., Dingemans, A. J. M., Valenzuela, I., Verberne, E. A., Misra-Isrie, M., Zwijnenburg, P. J. G., & 8 othersWaisfisz, Q., Alders, M., Sailer, S., Schaaf, C. P., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 1 Mar 2024, In: Genetics in medicine. 26, 3, 101050.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants

  van der Laan, L., Lauffer, P., Rooney, K., Silva, A., Haghshenas, S., Relator, R., Levy, M. A., Trajkova, S., Huisman, S. A., Bijlsma, E. K., Kleefstra, T., van Bon, B. W., Baysal, Ö., Zweier, C., Palomares-Bralo, M., Fischer, J., Szakszon, K., Faivre, L., Piton, A., Mesman, S., & 14 othersHochstenbach, R., Elting, M. W., van Hagen, J. M., Plomp, A. S., Mannens, M. M. A. M., Alders, M., van Haelst, M. M., Ferrero, G. B., Brusco, A., Henneman, P., Sweetser, D. A., Sadikovic, B., Vitobello, A. & Menke, L. A., 2 Apr 2024, (E-pub ahead of print) In: Human Genetics and Genomics Advances. p. 100289

  Research output: Contribution to journal › Article › Academic › peer-review

• Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

  Pérez Baca, M. D. R., Jacobs, E. Z., Vantomme, L., Leblanc, P., Bogaert, E., Dheedene, A., de Cock, L., Haghshenas, S., Foroutan, A., Levy, M. A., Kerkhof, J., McConkey, H., Chen, C-A., Batzir, N. A., Wang, X., Palomares, M., Carels, M. & ZFHX3 consortium, 7 Mar 2024, In: American journal of human genetics. 111, 3, p. 509-528 20 p.

  Research output: Contribution to journal › Article › Academic › peer-review

• Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene

  Karimi, K., Mol, M. O., Haghshenas, S., Relator, R., Levy, M. A., Kerkhof, J., McConkey, H., Brooks, A., Zonneveld-Huijssoon, E., Gerkes, E. H., Tedder, M. L., Vissers, L., Salzano, E., Piccione, M., Asaftei, S. D., Carli, D., Mussa, A., Shukarova-Angelovska, E., Trajkova, S., Brusco, A., & 4 othersMerla, G., Alders, M. M., Bouman, A. & Sadikovic, B., 1 Mar 2024, In: Genetics in medicine. 26, 3, 101041.

  Research output: Contribution to journal › Article › Academic › peer-review

• Identification of the DNA methylation signature of Mowat-Wilson syndrome

  Caraffi, S. G., van der Laan, L., Rooney, K., Trajkova, S., Zuntini, R., Relator, R., Haghshenas, S., Levy, M. A., Baldo, C., Mandrile, G., Lauzon, C., Cordelli, D. M., Ivanovski, I., Fetta, A., Sukarova, E., Brusco, A., Pavinato, L., Pullano, V., Zollino, M., McConkey, H., & 4 othersTartaglia, M., Ferrero, G. B., Sadikovic, B. & Garavelli, L., 2024, (E-pub ahead of print) In: European journal of human genetics.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

  MKHK Research Consortium, 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100287 100287.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile

  Rots, D., Rooney, K., Relator, R., Kerkhof, J., McConkey, H., Pfundt, R., Marcelis, C., Willemsen, M. H., van Hagen, J. M., Zwijnenburg, P., Alders, M., Õunap, K., Reimand, T., Fjodorova, O., Berland, S., Liahjell, E. B., Bojovic, O., Kriek, M., Ruivenkamp, C., Bonati, M. T., & 4 othersBrunner, H. G., Vissers, L. E. L. M., Sadikovic, B. & Kleefstra, T., Jun 2024, In: Clinical genetics. 105, 6, 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2023

  DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder

  Rooney, K., van der Laan, L., Trajkova, S., Haghshenas, S., Relator, R., Lauffer, P., Vos, N., Levy, M. A., Brunetti-Pierri, N., Terrone, G., Mignot, C., Keren, B., de Villemeur, T. B., Volker-Touw, C. M. L., Verbeek, N., van der Smagt, J. J., Oegema, R., Brusco, A., Ferrero, G. B., Misra-Isrie, M., & 6 othersHochstenbach, R., Alders, M., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 1 Aug 2023, In: Genetics in medicine. 25, 8, 100871.

  Research output: Contribution to journal › Article › Academic › peer-review
  8 Citations (Scopus)

• DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

  Vos, N., Reilly, J., Elting, M. W., Campeau, P. M., Coman, D., Stark, Z., Tan, T. Y., Amor, D. J., Kaur, S., StJohn, M., Morgan, A. T., Kamien, B. A., Patel, C., Tedder, M. L., Merla, G., Prontera, P., Castori, M., Muru, K., Collins, F., Christodoulou, J., & 13 othersSmith, J., Zeev, B. B., Murgia, A., Leonardi, E., Esber, N., Martinez-Monseny, A., Casas-Alba, D., Wallis, M., Mannens, M., Levy, M. A., Relator, R., Alders, M. & Sadikovic, B., 1 Mar 2023, In: Epigenomics. 15, 6, p. 351-367 17 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  1 Citation (Scopus)

• Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature

  van der Laan, L., Rooney, K., Haghshenas, S., Silva, A., McConkey, H., Relator, R., Levy, M. A., Valenzuela, I., Trujillano, L., Lasa-Aranzasti, A., Campos, B., Castells, N., Verberne, E. A., Maas, S., Alders, M., Mannens, M. M. A. M., van Haelst, M. M., Sadikovic, B. & Henneman, P., 1 Sept 2023, In: International journal of molecular sciences. 24, 18, 14240.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Integrated omics analyses clarifies ATRX copy number variant of uncertain significance

  Care4Rare Canada Consortium, 2023, (E-pub ahead of print) In: Journal of Human Genetics.

  Research output: Contribution to journal › Article › Academic › peer-review
  1 Citation (Scopus)