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, (article identifier: 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, (article identifier: 100289), 2024.
Szakszon, K.,
Lourenco, C. M.,
Callewaert, B. L.,
Geneviève, D.,
Rouxel, F.,
Morin, D.,
Denommé-Pichon, A. S.,
Vitobello, A.,
Patterson, W. G.,
Louie, R.,
Pinto e Vairo, F.,
Klee, E.,
Kaiwar, C.,
Gavrilova, R. H.,
Agre, K. E.,
Jacquemont, S.,
Khadijé, J.,
Giltay, J.,
van Gassen, K.,
Merő, G.,
Gerkes, E.,
Van Bon, B. W.,
Rinne, T.,
Pfundt, R.,
Brunner, H. G.,
Caluseriu, O.,
Grasshoff, U.,
Kehrer, M.,
Haack, T. B.,
Khelifa, M. M.,
Bergmann, A. K.,
Cueto-González, A. M.,
Martorell, A. C.,
Ramachandrappa, S.,
Sawyer, L. B.,
Fasel, P.,
Braun, D.,
Isis, A.,
Superti-Furga, A.,
McNiven, V.,
Chitayat, D.,
Ahmed, S. A.,
Brennenstuhl, H.,
Schwaibolf, E. M. C.,
Battisti, G.,
Parmentier, B.,
Stevens, S. J. C.:
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with mutations.
J. Med. Genet. 61 (2), 132-141, (article identifier: 2022), 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.
Q1
Public Health, Environmental and Occupational Health
8.
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, (article identifier: 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, (article identifier: 2367), 2022.
Kalmár, T.,
Szakszon, K.,
Maróti, Z.,
Zimmermann, A.,
Máté, A.,
Zombor, M.,
Bereczki, C.,
Sztriha, L.:
A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.
J Pediatr Genet. 10 (02), 159-163, 2021.
Q2
Biochemistry, Genetics and Molecular Biology (miscellaneous)
Q2
Ecology, Evolution, Behavior and Systematics
Q2
Paleontology
Q3
Space and Planetary Science
15.
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, (article identifier: 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, (article identifier: 1674), 2021.
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.
Lessel, D.,
Ozel, A. B.,
Campbell, S. E.,
Saadi, A.,
Arlt, M. F.,
McSweeney, K. M.,
Plaiasu, V.,
Szakszon, K.,
Szőllős, A.,
Rusu, C.,
Rojas, A. J.,
Lopez-Valdez, J.,
Thiele, H.,
Nürnberg, P.,
Nickerson, D. A.,
Bamshad, M. J.,
Li, J. Z.,
Kubisch, C.,
Glover, T. W.,
Gordon, L. B.:
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Hum. Genet. 137 (11-12), 921-939, 2018.
