Szakszon Katalin

Lessel, I., Baresic, A., Chinn, I. K., May, J., Goenka, A., Chandler, K. E., Posey, J. E., Afenjar, A., Averdunk, L., Bedeschi, M. F., Besnard, T., Brager, R., Brick, L., Brugger, M., Brunet, T., Byrne, S., de la Calle, M. O., Capra, V., Cardenas, P., Chappé, C., Chong, H. J., Cogne, B., Conboy, E., Cope, H., Courtin, T., Deb, W., Dilena, R., Dubourg, C., Elgizouli, M., Fernandes, E., Fitzgerald, K. K., Gangi, S., George-Abraham, J. K., Gucsavas-Calikoglu, M., Haack, T. B., Hadonou, M., Hanker, B., Hüning, I., Iascone, M., Isidor, B., Järvelä, I., Jin, J. J., Jorge, A. A. L., Josifova, D., Kalinauskiene, R., Kamsteeg, E. J., Keren, B., Kessler, E., Kölbel, H., Kozenko, M., Kubisch, C., Kuechler, A., Leal, S. M., Leppälä, J., Luu, S. M., Lyon, G. J., Madan-Khetarpal, S., Mancardi, M., Marchi, E., Mehta, L., Menendez, B., Morel, C. F., Harasink, S. M., Nevay, D. L., Nigro, V., Odent, S., Oegema, R., Pappas, J., Pastore, M. T., Perilla-Young, Y., Platzer, K., Powell-Hamilton, N., Rabin, R., Rekab, A., Rezende, R. C., Robert, L., Romano, F., Scala, M., Poths, K., Schrauwen, I., Sebastian, J., Short, J., Sidlow, R., Sullivan, J., Szakszon, K., Tan, Q. K. G., Wagner, M., Wieczorek, D., Yuan, B., Maeding, N., Strunk, D., Begtrup, A., Banka, S., Lupski, J. R., Tolosa, E., Lessel, D.: DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Am. J. Hum. Genet. 112 (2), 394-413, 2025.

Lacombe, D., Bloch-Zupan, A., Bredrup, C., Cooper, E. B., Houge, S. D., García-Miñaúr, S., Kayserili, H., Larizza, L., Lopez Gonzalez, V., Menke, L. A., Milani, D., Saettini, F., Stevens, C. A., Tooke, L., Zee, J. A. V. d., Genderen, M. M. V., Van-Gils, J., Waite, J., Adrien, J. L., Bartsch, O., Bitoun, P., Bouts, A. H. M., Cueto-González, A. M., Dominguez-Garrido, E., Duijkers, F. A., Fergelot, P., Halstead, E., Huisman, S. A., Meossi, C., Mullins, J., Nikkel, S. M., Oliver, C., Prada, E., Rei, A., Riddle, I., Rodriguez-Fonseca, C., Rodríguez Pena, R., Russell, J., Saba, A., Santos-Simarro, F., Simpson, B. N., Smith, D. F., Stevens, M. F., Szakszon, K., Taupiac, E., Totaro, N., Valenzuena Palafoll, I., Kaay, D. C. M. V. D., Wijk, M. P. V., Vyshka, K., Wiley, S., Hennekam, R. C.: Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J. Med. Genet. 61 (6), 503-519, (cikkazonosító: 2023), 2024.

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., Hochstenbach, R., Elting, M. W., van Hagen, J. M., Plomp, A., Mannens, M. M., Alders, M., van Haelst, M. M., Ferrero, G. B., Brusco, A., Henneman, P., Sweetser, D. A., Sadikovic, B., Vitobello, A., Menke, L. A.: DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
HGG Adv. 5 (3), 1-10, (cikkazonosító: 100289), 2024.

McCrary, J. M., Van Valckenborgh, E., Poirel, H. A., de Putter, R., van Rooij, J., Horgan, D., Dierks, M. L., Antonova, O., Brunet, J., Chirita-Emandi, A., Colas, C., Dalmas, M., Ehrencrona, H., Grima, C., Janavicius, R., Klink, B., Koczok, K., Krajc, M., Lace, B., Leitsalu, L., Mistrik, M., Paneque, M., Primorac, D., Roetzer, K. M., Ronez, J., Slámová, L., Spanou, E., Stamatopoulos, K., Stoklosa, T., Strang-Karlsson, S., Szakszon, K., Szczauba, K., Turner, J., van Dooren, M. F., van Zelst-Stams, W. A. G., Vassallo, L. M., Wadt, K. A. W., Zigman, T., Ripperger, T., Genuardi, M., Van den Bulcke, M., Bergmann, A. K.: Genetic counselling legislation and practice in cancer in EU Member States.
Eur. J. Public Health. 34 (4), 666-675, 2024.

Stolwijk, N. N., Häberle, J., Huidekoper, H. H., Wagenmakers, M. A. E. M., Hollak, C. E. M., Bosch, A. M., E-IMD and MetabERN Working Group: Mapping challenges in the accessibility of treatment products for urea cycle disorders: a survey of European healthcare professionals.
J. Inherit. Metab. Dis. 48 (1), 1-12, (cikkazonosító: 12815), 2024.

Farkas, G., Székely, G., Goda, V., Kállay, K., Kocsis, Z. S., Szakszon, K., Benyó, G., Erdélyi, D., Liptai, Z., Csordás, K., Kertész, G., Szegedi, I., Kriván, G., Takácsi-Nagy, Z., Polgár, C., Jurányi, Z.: Chromosomal breakage tests in the differential diagnosis of Fanconi anemia and aplastic anemia.
Eur. J. Haematol. 111 (2), 254-262, 2023.

Szabó, T. M., Balogh, I., Ujfalusi, A., Szűcs, Z., Madar, L., Koczok, K., Bessenyei, B., Csürke, I., Szakszon, K.: Helsmoortel-Van der Aa Syndrome: Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.
Genes. 13 (12), 1-13, (cikkazonosító: 2367), 2022.

Szűcs, Z., Fitala, R., Nyuzó, Á. R., Fodor, K., Czemmel, É., Vrancsik, N., Bessenyei, M., Szabó, T., Szakszon, K., Balogh, I.: Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary.
Genes. 12 (9), 1-13, (cikkazonosító: 1331), 2021.

Kozma, K., Bembea, M., Jurca, C., Ioana, M., Streaţă, I., Şoşoi, S. Ş., Pirvu, A., Petchesi, C. D., Szilágyi, A., Sava, C. N., Jurca, A., Ujfalusi, A., Szűcs, Z., Szakszon, K.: Greig Cephalopolysyndactyly Contiguous Gene Syndrome: case Report and Literature Review.
Genes. 12 (11), 1-9, (cikkazonosító: 1674), 2021.

Ujfalusi, A., Nagy, O., Bessenyei, B., Lente, G., Kántor, I., Borbély, Á. J., Szakszon, K.: 22q13 microduplication syndrome in siblings with mild clinical phenotype: broadening the clinical and behavioral spectrum.
Mol Syndromol. 11 (3), 146-152, 2020.

Sümegi, A., Hendrik, Z., Gáll, T., Felszeghy, E. N., Szakszon, K., Antal-Szalmás, P., Beke, L., Papp, Á., Méhes, G., Balla, J., Balla, G.: A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary.
BMC Med. Genet. 21 (61), 1-12, 2020.

Heard, J. M., Vrinten, C., Schlander, M., Bellettato, C. M., van Lingen, C., Scarpa, M., MetabERN collaboration group: Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network.
Orphanet J. Rare Dis. 15 (3), 1-10, 2020.

Parry, D. A., Tamayo-Orrego, L., Carroll, P., Marsh, J. A., Greene, P., Murina, O., Uggenti, C., Leitch, A., Káposzta, R., Merő, G., Nagy, A., Orlik, B., Kovács, P. B., Quigley, A. J., Riszter, M., Rankin, J., Reijns, M. A. M., Szakszon, K., Jackson, A. P.: PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Genes Dev. 34 (21-22), 1520-1533, 2020.

Nagy, O., Szakszon, K., Biró, B. O., Mogyorósy, G., Nagy, D., Nagy, B., Balogh, I., Ujfalusi, A.: Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.
J. Biotechnol. 299, 86-95, 2019.