Szakszon Katalin

University of Debrecen Faculty of Medicine

Department of Pediatrics

Name: Szakszon Katalin

Affiliation:

Debreceni Egyetem. Általános Orvostudományi Kar. Gyermekgyógyászati Intézet / University of Debrecen. Faculty of Medicine. Department of Pediatrics

Other profiles: Google Scholar MTMT

Degree:

PhD, Debreceni Egyetem (2013)
Habilitáció, Debreceni Egyetem (2020)

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Publications in DEA:

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Date range:

2005-2024

2024

Tóth, R. A., Felszeghy, E. N., Szakszon, K.: A Temple szindrómáról: Egy esetünk kapcsán.
Gyermekgyógy. 75 (3), 207-208, 2024.

DEA

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.

doi DEA WoS Scopus

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Q1 Genetics

Q1 Genetics (clinical)

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.

doi DEA WoS Scopus

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Q1 Genetics (clinical)

Q1 Molecular Medicine

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.

doi DEA WoS Scopus

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Q1 Genetics

Q1 Genetics (clinical)

Hudák, R., Szegedi, I., Petrás, M., Gaál, Z., Macsi, L., Szakszon, K., Merő, G., Nagy, O., Balogh, I., Bedekovics, J., Méhes, G., Baráth, S., Kiss, C.: Generalizált lymphadenopathia hátterében álló ritka ok: esetismertetés.
Gyermekgyógyászat. 75 (5), 365, 2024.

DEA

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.

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Q1 Public Health, Environmental and Occupational Health

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.

doi DEA WoS Scopus

2023

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.

doi DEA Scopus

Journal metrics:

Q2 Hematology

Q1 Medicine (miscellaneous)

2022

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.

doi DEA Scopus

Journal metrics:

Q2 Genetics

Q2 Genetics (clinical)

10.

Bessenyei, B., Balogh, I., Mokánszki, A., Ujfalusi, A., Pfundt, R., Szakszon, K.: MED13L-related intellectual disability due to paternal germinal mosaicism.
Mol. Case Studies. 8 (1), 1-9, (article identifier: 006124), 2022.

doi DEA WoS Scopus

Journal metrics:

Q2 Biochemistry

Q2 Genetics

Q2 Genetics (clinical)

Q2 Molecular Medicine

2021

11.

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.

doi DEA

12.

Gál, A., Grosz, Z., Borsos, B., Szatmári, I., Sebők, Á., Jávor, L., Harmath, V., Szakszon, K., Dézsi, L., Balku, E., Jobbágy, Z., Herczegfalvi, Á., Almássy, Z., Kerényi, L., Molnár, M. J.: Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.
Life (Basel). 11 (6), 1-23, 2021.

doi DEA

Journal metrics:

Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous)

Q2 Ecology, Evolution, Behavior and Systematics

Q2 Paleontology

Q3 Space and Planetary Science

13.

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, 2021.

doi DEA

Journal metrics:

Q2 Genetics

Q2 Genetics (clinical)

14.

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, 2021.

doi DEA

Journal metrics:

Q2 Genetics

Q2 Genetics (clinical)

2020

15.

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.

doi DEA

Journal metrics:

Q3 Genetics

Q3 Genetics (clinical)

16.

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.

doi DEA

Journal metrics:

Q3 Genetics

Q3 Genetics (clinical)

17.

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.

doi DEA

18.

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.

doi DEA WoS Scopus

Journal metrics:

D1 Developmental Biology

D1 Genetics

2019

19.

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.

doi DEA WoS Scopus

Journal metrics:

Q1 Applied Microbiology and Biotechnology

Q2 Bioengineering

Q1 Biotechnology

Q1 Medicine (miscellaneous)

20.

Buglyó, G., Biró, S., Szakszon, K., Mátyus, J., Méhes, G., Vargha, G., Oláh, É., Nagy, B.: Exploring WAGR syndrome: genotype-phenotype associations in the 11p13 region.
Eur. J. Hum. Genet. 27 (S2), 1532, 2019.

doi DEA

21.

Madar, L., Szakszon, K., Pfliegler, G., P. Szabó, G., Brúgós, B., Ronen, N., Papp, J., Zahuczky, K., Szakos, E., Fekete, G., Oláh, É., Koczok, K., Balogh, I.: FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies.
J. Biotechnol. 301, 105-111, 2019.

doi DEA WoS Scopus

Journal metrics:

Q1 Applied Microbiology and Biotechnology

Q2 Bioengineering

Q1 Biotechnology

Q1 Medicine (miscellaneous)

22.

Bessenyei, B., Mokánszki, A., Nagy, O., Szakszon, K., Zimmermann, A., Zombor, M., Horváth, E., Ujfalusi, A., Balogh, I., Sztriha, L.: Genetic investigation of the LIS1, DCX and TUBA1A genes in patients with lissencephaly.
Eur. J. Hum. Genet. 27, 286, 2019.

DEA

2018

23.

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.

doi DEA

Journal metrics:

Q1 Genetics

Q1 Genetics (clinical)

24.

Yilmaz, R., Szakszon, K., Altmann, A., Altunoglu, U., Senturk, L., McGuire, M., Calabrese, O., Madan-Khetarpal, S., Basel, V. L., Borck, G.: Kaufman oculocerebrofacial syndrome: novel mutations and clinical features in four unrelated patients.
Am. J. Med. Genet. A. 176 (1), 187-193, 2018.

doi DEA

Journal metrics:

Q2 Genetics

Q2 Genetics (clinical)

25.

Szakszon, K.: Kromoszóma-rendellenességek.
In: Klinikai gyermekgyógyászat. Szerk.: Tulassay Tivadar, Medicina Könyvkiadó Zrt., Budapest, 209-213, 2018. ISBN: 9789632266398

DEA