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Klinikai Genetikai Tanszék

Name: Klinikai Genetikai Tanszék

Publication list

Uploaded publications:
58
Publications in DEA:
58
OA:
40
Date range:
2015-2024
2024
  1. Feró, O., Varga, D., Nagy, É., Karányi, Z., Sipos, É., Engelhardt, J., Török, N., Balogh, I., Vető, B., Liko, I., Fóthi, Á., Szabó, Z., Halmos, G., Vécsei, L., Arányi, T., Székvölgyi, L.: DNA methylome, R-loop and clinical exome profiling of patients with sporadic amyotrophic lateral sclerosis.
    Sci Data. 11 (1), 1-12, 2024.
    Journal metrics:
    D1 Computer Science Applications (2022)
    D1 Education (2022)
    D1 Information Systems (2022)
    D1 Library and Information Sciences (2022)
    D1 Statistics and Probability (2022)
    D1 Statistics, Probability and Uncertainty (2022)
2023
  1. Csók, Á., Micsik, T., Magyar, Z., Tornóczky, T., Kuthi, L., Nishi, Y., Szirák, K., Csóka, M., Ottóffy, G., Soltész, B., Balogh, I., Buglyó, G.: Alterations of miRNA Expression in Diffuse Hyperplastic Perilobar Nephroblastomatosis: Mapping the Way to Understanding Wilms' Tumor Development and Differential Diagnosis.
    Int. J. Mol. Sci. 24 (10), 1-16, 2023.
    Journal metrics:
    Q2 Catalysis (2022)
    Q1 Computer Science Applications (2022)
    D1 Inorganic Chemistry (2022)
    Q1 Medicine (miscellaneous) (2022)
    Q2 Molecular Biology (2022)
    Q1 Organic Chemistry (2022)
    Q1 Physical and Theoretical Chemistry (2022)
    D1 Spectroscopy (2022)
  2. Mianesaz, H., Ghalamkari, S., Salehi, M., Behnam, M., Hosseinzadeh, M., Basiri, K., Ghasemi, M., Sedghi, M., Ansari, B.: Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.
    Molec Gen & Gen Med. 11 (2), 1-14, 2023.
  3. Kárteszi, J., Ziegler, A., Tihanyi, M., Elmont, B., Zhang, Y., Patócs, B., Molnár, M., Méhes, G., Wells, K., Jakus, R., Bessenyei, B., Ranatunga, W., Morava, É.: Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
    Am. J. Med. Genet. A. 191 (9), 2428-2432, 2023.
    Journal metrics:
    Q2 Genetics (2022)
    Q3 Genetics (clinical) (2022)
  4. Madar, L., Majoros, V., Szűcs, Z., Nagy, O., Babicz, T., Butz, H., Patócs, A., Balogh, I., Koczok, K.: Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer.
    Int. J. Mol. Sci. 24 (20), 1-7, 2023.
    Journal metrics:
    Q2 Catalysis (2022)
    Q1 Computer Science Applications (2022)
    D1 Inorganic Chemistry (2022)
    Q1 Medicine (miscellaneous) (2022)
    Q2 Molecular Biology (2022)
    Q1 Organic Chemistry (2022)
    Q1 Physical and Theoretical Chemistry (2022)
    D1 Spectroscopy (2022)
  5. Pócsi, M., Fejes, Z., Bene, Z., Nagy, A., Balogh, I., Amaral, M., Macek, J., Nagy, B.: Human epididymis protein 4 (HE4) plasma concentration inversely correlates with the improvement of cystic fibrosis lung disease in p.Phe508del-CFTR homozygous cases treated with the CFTR modulator lumacaftor/ivacaftor combination.
    J. Cyst. Fibros. 22 (6), 1085-1092, 2023.
    Journal metrics:
    D1 Pediatrics, Perinatology and Child Health (2022)
    D1 Pulmonary and Respiratory Medicine (2022)
  6. Xue, A., Lénárt, I., Kincs, J., Szabó, H., Párniczky, A., Balogh, I., Deák, A., Monostori, P., Hegedűs, K., Szabó, A., Szatmári, I.: Neonatal Screening for Cystic Fibrosis in Hungary-First-Year Experiences.
    Int. J. Neonatal Screen. 9 (3), 1-10, 2023.
    Journal metrics:
    Q2 Immunology and Microbiology (miscellaneous) (2022)
    Q1 Obstetrics and Gynecology (2022)
    Q1 Pediatrics, Perinatology and Child Health (2022)
  7. Gombos, G., Németh, N., Pös, O., Styk, J., Buglyó, G., Szemes, T., Danihel, L., Nagy, B., Balogh, I., Soltész, B.: New Possible Ways to Use Exosomes in Diagnostics and Therapy via JAK/STAT Pathways.
    Pharmaceutics. 15 (7), 1-17, 2023.
    Journal metrics:
    Q1 Pharmaceutical Science (2022)
2022
  1. Deák, A., Koczok, K., Bessenyei, B., Szűcs, Z., Madar, L., Csorba, G., Orosz, O., Laki, I., Halász, A., Marsal, G., Balogh, I.: A magyar Cystás Fibrosis Regiszter genetikai revíziója.
    Orv. hetil. 163 (51), 2052-2059, 2022.
    Journal metrics:
    Q4 Medicine (miscellaneous)
  2. Szűcs, Z., Pinti, É., Haltrich, I., Pálné, S., Nagy, T., Barta, E., Méhes, G., Bidiga, L., Török, O., Ujfalusi, A., Koczok, K., Balogh, I.: An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: duchenne Muscular Dystrophy in a Female Patient.
    Int. J. Mol. Sci. 23 (21), 1-15, 2022.
    Journal metrics:
    Q2 Catalysis
    Q1 Computer Science Applications
    D1 Inorganic Chemistry
    Q1 Medicine (miscellaneous)
    Q2 Molecular Biology
    Q1 Organic Chemistry
    Q1 Physical and Theoretical Chemistry
    D1 Spectroscopy
  3. Madar, L., Juhász, L., Szűcs, Z., Kerkovits, L., Harangi, M., Balogh, I.: Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.
    Genes. 13 (1), 1-13, 2022.
    Journal metrics:
    Q2 Genetics
    Q2 Genetics (clinical)
  4. 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
  5. Maia, N., Ibarluzea, N., Misra-Isrie, M., Koboldt, D., Marques, I., Soares, G., Santos, R., Marcelis, C., Keski-Filppula, R., Guitart, M., Gabau Vila, E., Lehman, A., Hickey, S., Mori, M., Terhal, P., Valenzuela, I., Lasa, -., Cueto-González, A., Chhouk, B., Yeh, R., Neil, J., Abu-Libde, B., Kleefstra, T., Elting, M., Császár, A., Kárteszi, J., Bessenyei, B., van Bokhoven, H., Jorge, P., van Hagen, J., de Brouwer, A.: Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
    Am. J. Med. Genet. A. 191 (1), 135-143, 2022.
    Journal metrics:
    Q2 Genetics
    Q3 Genetics (clinical)
  6. Horváth, O., Reusz, G., Goda, V., Kelen, K., Balogh, I., Kardos, M., Kállay, K., Cseh, Á., Szabó, A., Kriván, G.: Non-lupus full-house nephropathy-immune dysregulation as a rare cause of pediatric nephrotic syndrome: answers.
    Pediatr. Nephrol. 37 (5), 1053-1056, 2022.
    Journal metrics:
    Q2 Nephrology
    Q1 Pediatrics, Perinatology and Child Health
  7. Beke-Varga, A., Márton, É., Markovics, A., Penyige, A., Balogh, I., Nagy, B., Szilágyi, M.: Suppressing the PI3K/AKT Pathway by miR-30d-5p Mimic Sensitizes Ovarian Cancer Cells to Cell Death Induced by High-Dose Estrogen.
    Biomedicines. 10 (9), 1-19, 2022.
    Journal metrics:
    Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Q1 Medicine (miscellaneous)
  8. Soltész, B., Buglyó, G., Németh, N., Szilágyi, M., Pös, O., Szemes, T., Balogh, I., Nagy, B.: The Role of Exosomes in Cancer Progression.
    Int. J. Mol. Sci. 23 (1), 1-19, 2022.
    Journal metrics:
    Q2 Catalysis
    Q1 Computer Science Applications
    D1 Inorganic Chemistry
    Q1 Medicine (miscellaneous)
    Q2 Molecular Biology
    Q1 Organic Chemistry
    Q1 Physical and Theoretical Chemistry
    D1 Spectroscopy
  9. Bedics, G., Egyed, B., Kotmayer, L., Benard-Slagter, A., de Groot, K., Bekő, A., Hegyi, L., Krizsán, S., Kriván, G., Erdélyi, D., Kovács, G., Haltrich, I., Kajtár, B., Pajor, L., Vojcek, Á., Ottóffy, G., Ujfalusi, A., Kiss, C., Szegedi, I., Bartyik, K., Péter, G., Sebestyén, E., Jakab, Z., Matolcsy, A., Savola, S., Bödör, C., Alpár, D.: Új, rizikóbecslő módszerek gyermekkkori akut llimfobalsztos leukémiában újgenerációs szekvenáláson alapuló átfogó kópiaszám-eltérés-profilozás által.
    Hematol. Trasnzfuziol. Különszám 20, 2022.
2021
  1. Gaál, Z., Szűcs, Z., Kántor, I., Luczay, A., Tóth, -., Benn, O., Felszeghy, E., Karádi, Z., Madar, L., Balogh, I.: A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes.
    Life (Basel). 11 (755), 1-13, 2021.
    Journal metrics:
    Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Q2 Ecology, Evolution, Behavior and Systematics
    Q2 Paleontology
    Q3 Space and Planetary Science
  2. Gaál, Z., Szűcs, Z., Kántor, I., Luczay, A., Tóth, -., Benn, O., Felszeghy, E., Karádi, Z., Madar, L., Balogh, I.: A Comprehensive Analysis of Hungarian MODY Patients-Part II: glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.
    Life (Basel). 11 (8), 1-20, 2021.
    Journal metrics:
    Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Q2 Ecology, Evolution, Behavior and Systematics
    Q2 Paleontology
    Q3 Space and Planetary Science
Show all
updated: 2024-03-17, 03:32

SCImago quartiles of
scientific journal articles

Number of scientific articles: 53
Q1/D1 11 (20.8%)
Q1 23 (43.4%)
Q2 20 (37.7%)
Q3 4 (7.5%)
Q4 1 (1.9%)
N/A 5 (9.4%)
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SCImago subject areas and categories

Medicine (39)
Medicine (miscellaneous) (14)
Genetics (clinical) (13)
Pediatrics, Perinatology and Child Health (7)
Neurology (clinical) (3)
Obstetrics and Gynecology (3)
Nephrology (2)
Ophthalmology (2)
Pulmonary and Respiratory Medicine (2)
Reproductive Medicine (2)
Biochemistry (medical) (1)
Dermatology (1)
Endocrinology, Diabetes and Metabolism (1)
Oncology (1)
Pathology and Forensic Medicine (1)
Pharmacology (medical) (1)
Psychiatry and Mental Health (1)
Biochemistry, Genetics and Molecular Biology (28)
Genetics (13)
Molecular Biology (6)
Biochemistry (5)
Biochemistry, Genetics and Molecular Biology (miscellaneous) (3)
Biotechnology (3)
Clinical Biochemistry (2)
Molecular Medicine (2)
Cancer Research (1)
Cell Biology (1)
Endocrinology (1)
Chemical Engineering (6)
Catalysis (4)
Bioengineering (2)
Computer Science (5)
Computer Science Applications (5)
Information Systems (1)
Chemistry (4)
Inorganic Chemistry (4)
Organic Chemistry (4)
Physical and Theoretical Chemistry (4)
Spectroscopy (4)
Immunology and Microbiology (3)
Applied Microbiology and Biotechnology (2)
Immunology and Microbiology (miscellaneous) (1)
Neuroscience (3)
Cellular and Molecular Neuroscience (2)
Neurology (1)
Sensory Systems (1)
Pharmacology, Toxicology and Pharmaceutics (3)
Pharmaceutical Science (1)
Pharmacology (1)
Toxicology (1)
Agricultural and Biological Sciences (2)
Ecology, Evolution, Behavior and Systematics (2)
Earth and Planetary Sciences (2)
Paleontology (2)
Space and Planetary Science (2)
Decision Sciences (1)
Statistics, Probability and Uncertainty (1)
Environmental Science (1)
Health, Toxicology and Mutagenesis (1)
Mathematics (1)
Statistics and Probability (1)
Social Sciences (1)
Education (1)
Library and Information Sciences (1)

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