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Szakszon Katalin

Szakszon Katalin

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)
Profession: neonatologist and pediatrician, clinical geneticist

Publication list

Uploaded publications:
50
Publications in DEA:
50
OA:
14
Date range:
2005-2024
2024
  1. Lacombe, D., Bloch-Zupan, A., Bredrup, C., Cooper, E., Houge, S., García-Miñaúr, S., Kayserili, H., Larizza, L., Lopez Gonzalez, V., Menke, L., Milani, D., Saettini, F., Stevens, C., Tooke, L., Zee, J., Genderen, M., Van-Gils, J., Waite, J., Adrien, J., Bartsch, O., Bitoun, P., Bouts, A., Cueto-González, A., Dominguez-Garrido, E., Duijkers, F., Fergelot, P., Halstead, E., Huisman, S., Meossi, C., Mullins, J., Nikkel, S., Oliver, C., Prada, E., Rei, A., Riddle, I., Rodriguez-Fonseca, C., Rodríguez Pena, R., Russell, J., Saba, A., Santos-Simarro, F., Simpson, B., Smith, D., Stevens, M., Szakszon, K., Taupiac, E., Totaro, N., Valenzuena Palafoll, I., Kaay, D., Wijk, M., Vyshka, K., Wiley, S., Hennekam, R.: Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
    J. Med. Genet. [Epub ahead of print]2024.
    Journal metrics:
    Q1 Genetics (2023)
    Q1 Genetics (clinical) (2023)
  2. Szakszon, K., Lourenco, C., Callewaert, B., Geneviève, D., Rouxel, F., Morin, D., Denommé-Pichon, A., Vitobello, A., Patterson, W., Louie, R., Pinto e Vairo, F., Klee, E., Kaiwar, C., Gavrilova, R., Agre, K., Jacquemont, S., Khadijé, J., Giltay, J., van Gassen, K., Merő, G., Gerkes, E., Van Bon, B., Rinne, T., Pfundt, R., Brunner, H., Caluseriu, O., Grasshoff, U., Kehrer, M., Haack, T., Khelifa, M., Bergmann, A., Cueto-González, A., Martorell, A., Ramachandrappa, S., Sawyer, L., Fasel, P., Braun, D., Isis, A., Superti-Furga, A., McNiven, V., Chitayat, D., Ahmed, S., Brennenstuhl, H., Schwaibolf, E., Battisti, G., Parmentier, B., Stevens, S.: 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, 2024.
    Journal metrics:
    Q1 Genetics (2023)
    Q1 Genetics (clinical) (2023)
2023
  1. Farkas, G., Székely, G., Goda, V., Kállay, K., Kocsis, Z., 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.
    Journal metrics:
    Q2 Hematology
    Q1 Medicine (miscellaneous)
2022
  1. 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, 2022.
    Journal metrics:
    Q2 Biochemistry
    Q2 Genetics
    Q2 Genetics (clinical)
    Q2 Molecular Medicine
2021
  1. 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.
  2. 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.: Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.
    Life (Basel). 11 (6), 1-23, 2021.
    Journal metrics:
    Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Q2 Ecology, Evolution, Behavior and Systematics
    Q2 Paleontology
    Q3 Space and Planetary Science
  3. Szűcs, Z., Fitala, R., Nyuzó, Á., 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.
    Journal metrics:
    Q2 Genetics
    Q2 Genetics (clinical)
  4. Kozma, K., Bembea, M., Jurca, C., Ioana, M., Streaţă, I., Şoşoi, S., Pirvu, A., Petchesi, C., Szilágyi, A., Sava, C., Jurca, A., Ujfalusi, A., Szűcs, Z., Szakszon, K.: Greig Cephalopolysyndactyly Contiguous Gene Syndrome: case Report and Literature Review.
    Genes. 12 (11), 1-9, 2021.
    Journal metrics:
    Q2 Genetics
    Q2 Genetics (clinical)
2020
  1. Ujfalusi, A., Nagy, O., Bessenyei, B., Lente, G., Kántor, I., Borbély, Á., Szakszon, K.: 22q13 microduplication syndrome in siblings with mild clinical phenotype: broadening the clinical and behavioral spectrum.
    Mol Syndromol. 11 (3), 146-152, 2020.
    Journal metrics:
    Q3 Genetics
    Q3 Genetics (clinical)
  2. Heard, J., Vrinten, C., Schlander, M., Bellettato, C., 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.
  3. Parry, D., Tamayo-Orrego, L., Carroll, P., Marsh, J., Greene, P., Murina, O., Uggenti, C., Leitch, A., Káposzta, R., Merő, G., Nagy, A., Orlik, B., Kovács, -., Quigley, A., Riszter, M., Rankin, J., Reijns, M., Szakszon, K., Jackson, A.: PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
    Genes Dev. 34 (21-22), 1520-1533, 2020.
    Journal metrics:
    D1 Developmental Biology
    D1 Genetics
2019
  1. Nagy, O., Szakszon, K., Biró, B., 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.
    Journal metrics:
    Q1 Applied Microbiology and Biotechnology
    Q2 Bioengineering
    Q1 Biotechnology
    Q1 Medicine (miscellaneous)
  2. 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.
    Journal metrics:
    Q1 Applied Microbiology and Biotechnology
    Q2 Bioengineering
    Q1 Biotechnology
    Q1 Medicine (miscellaneous)
2018
  1. Lessel, D., Ozel, A., Campbell, S., Saadi, A., Arlt, M., McSweeney, K., Plaiasu, V., Szakszon, K., Szőllős, A., Rusu, C., Rojas, A., Lopez-Valdez, J., Thiele, H., Nürnberg, P., Nickerson, D., Bamshad, M., Li, J., Kubisch, C., Glover, T., Gordon, L.: 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.
    Journal metrics:
    Q1 Genetics
    Q1 Genetics (clinical)
  2. Yilmaz, R., Szakszon, K., Altmann, A., Altunoglu, U., Senturk, L., McGuire, M., Calabrese, O., Madan-Khetarpal, S., Basel, -., Borck, G.: Kaufman oculocerebrofacial syndrome: novel mutations and clinical features in four unrelated patients.
    Am. J. Med. Genet. A. 176 (1), 187-193, 2018.
    Journal metrics:
    Q2 Genetics
    Q2 Genetics (clinical)
  3. Szakszon, K.: Kromoszóma-rendellenességek.
    In: Klinikai gyermekgyógyászat. Szerk.: Tulassay Tivadar, Medicina Könyvkiadó Zrt., Budapest, 209-213, 2018. ISBN: 9789632266398
  4. Szakszon, K.: Lipidtárolási betegségek.
    In: Klinikai gyermekgyógyászat. Szerk.: Tulassay Tivadar, Medicina Könyvkiadó Zrt., Budapest, 251-254, 2018. ISBN: 9789632266398
2016
  1. Szakszon, K.: Kromoszóma-rendellenességek.
    In: Klinikai gyermekgyógyászat. Szerk.: Tulassay Tivadar, Medicina Könyvkiadó Zrt., Budapest, 187-191, 2016. ISBN: 9789632265803
  2. Szakszon, K.: Lipidtárolási betegségek.
    In: Klinikai gyermekgyógyászat. Szerk.: Tulassay Tivadar, Medicina Könyvkiadó Zrt., Budapest, 228-232, 2016. ISBN: 9789632265803
2015
  1. Yilmaz, R., Beleza-Meireles, A., Price, S., Oliveira, R., Kubisch, C., Clayton-Smith, J., Szakszon, K., Borck, G.: A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.
    Am. J. Med. Genet. A. 167A (12), 3006-3010, 2015.
    Journal metrics:
    Q2 Genetics
    Q3 Genetics (clinical)
Show all
updated: 2024-07-14, 01:54

SCImago quartiles of
scientific journal articles

Number of scientific articles: 39
Q1/D1 5 (12.8%)
Q1 17 (43.6%)
Q2 11 (28.2%)
Q3 7 (17.9%)
N/A 4 (10.3%)
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SCImago subject areas and categories

Medicine (33)
Genetics (clinical) (21)
Medicine (miscellaneous) (14)
Pediatrics, Perinatology and Child Health (2)
Biochemistry (medical) (1)
Emergency Medicine (1)
Endocrinology, Diabetes and Metabolism (1)
Hematology (1)
Neurology (clinical) (1)
Oncology (1)
Biochemistry, Genetics and Molecular Biology (26)
Genetics (21)
Biochemistry (2)
Biotechnology (2)
Biochemistry, Genetics and Molecular Biology (miscellaneous) (1)
Cancer Research (1)
Clinical Biochemistry (1)
Developmental Biology (1)
Endocrinology (1)
Molecular Medicine (1)
Chemical Engineering (2)
Bioengineering (2)
Immunology and Microbiology (2)
Applied Microbiology and Biotechnology (2)
Agricultural and Biological Sciences (1)
Ecology, Evolution, Behavior and Systematics (1)
Earth and Planetary Sciences (1)
Paleontology (1)
Space and Planetary Science (1)
Neuroscience (1)
Cellular and Molecular Neuroscience (1)

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iDEa co-authors

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Other co-authors

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Szabó Tímea Margit
Cueto-González, Anna Maria
Lourenco, Charles Marques
Molnár Mária Judit
Badura-Stronka, Magdalena
Barceló-Batllori, Silvia
Basel-Vanagaite, Lina
Beleza-Meireles, Ana
Bellettato, Cinzia Maria
Bergmann, Anke Katharina
Biró Brigitta Orsolya
Bonati, Maria Teresa
Borbély Ádám János
Bouts, Antonia H. M.
Callewaert, Bert Louis
Chrzanowska, Krystyna H.
Denommé-Pichon, Anne-Sophie
de Villemeur, Thierry Billette
Dieux-Coeslier, Anne
Dominguez-Garrido, Elena
Dutrannoy, Véronique
Ende, Jenneke van den
García-Miñaúr, Sixto
Gavrilova, Ralitza H.
Genderen, Maria M. Van
Graul-Neumann, Luitgard M.
Gruber-Sedlmayr, Ursula
Hagen, Johanna M. van
Hollander, Nicolette S. Den
Hoogeboom, A. Jeannette M.
Houge, Sofia Douzgou
Jacquemont, Marie-Line
Jacquemont, Sebastien
Jamsheer, Aleksander
Kaay, Daniëlle C. M. Van Der
Khelifa, Melik Malek
Kovács-Pászthy Balázs
Kroisel, Peter Michael
Laplanche, Jean-Louis
Latos-Bielenska, Anna
Lion-Francois, Laurence
Lopez Gonzalez, Vanesa
Lüdecke, Hermann-Josef
Madan-Khetarpal, Suneeta
Martin-Coignard, Dominique
Martínez-Cardús, Anna
Martorell, Ariadna Campos
McSweeney, Keisha Melodi
Mercimek-Mahmutoglu, Saadet
Moura, Conceição S.
Moutard, Marie-Laure
Nickerson, Deborah A.
Nyuzó Ágnes Renáta
Patterson, Wesley G.
Pérez-Salvia, Montserrat
Petchesi, Codruţa D.
Pierquin, Geneviève
Pinto e Vairo, Filippo
Ramachandrappa, Shwetha
Randrianaivo, Hanitra
Raspall-Chaure, Miquel
Reijns, Martin A. M.
Rodriguez-Fonseca, Cristina
Rodríguez Pena, Rebecca
Sanjuanelo, Alexander Barrios
Santos-Simarro, Fernando
Schwaibolf, Eva M. C.
Scott-Schwoerer, Jessica A.
Simó-Riudalbas, Laia
Simpson, Brittany N.
Steen, Antony van der
Stevens, Servi J. C.
Superti-Furga, Andrea
Takácsi-Nagy Zoltán
Tamayo-Orrego, Lukas
Tatton-Brown, Katrina
Torre, Carolina de la
Valayannopoulos, Vassili
Valenzuena Palafoll, Irene
Verheij, Joke B.G.M.
Vigneron, Jacqueline
Wijk, Michiel P. Van
Zee, Jill A. Van der