Madar László

1.

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, (article identifier: 15334), 2023.

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Q2 Catalysis

Q1 Computer Science Applications

D1 Inorganic Chemistry

Q1 Medicine (miscellaneous)

Q2 Molecular Biology

D1 Organic Chemistry

Q1 Physical and Theoretical Chemistry

D1 Spectroscopy

2.

Deák, A., Koczok, K., Bessenyei, B., Szűcs, Z., Madar, L., Csorba, G. É., Orosz, O., Laki, I., Halász, A., Marsal, G., Balogh, I.: A magyar Cystás Fibrosis Regiszter genetikai revíziója.
Orv. hetil. 163 (51), 2052-2059, 2022.

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Journal metrics:

Q4 Medicine (miscellaneous)

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, (article identifier: 153), 2022.

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Q2 Genetics

Q2 Genetics (clinical)

4.

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)

5.

Gaál, Z., Szűcs, Z., Kántor, I., Luczay, A., Tóth, H. P., Benn, O., Felszeghy, E. N., 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.

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Journal metrics:

Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous)

Q2 Ecology, Evolution, Behavior and Systematics

Q2 Paleontology

Q3 Space and Planetary Science

6.

Gaál, Z., Szűcs, Z., Kántor, I., Luczay, A., Tóth, H. P., Benn, O., Felszeghy, E. N., 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.

doi DEA

Journal metrics:

Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous)

Q2 Ecology, Evolution, Behavior and Systematics

Q2 Paleontology

Q3 Space and Planetary Science

7.

Mokánszki, A., Chang Chien, Y. C., Mótyán, J. A., Juhász, P., Bádon, E. S., Madar, L., Szegedi, I., Kiss, C., Méhes, G.: Novel RB1 and MET Gene Mutations in a Case with Bilateral Retinoblastoma Followed by Multiple Metastatic Osteosarcoma.
Diagnostics. 11 (1), 1-11, 2021.

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Journal metrics:

Q2 Clinical Biochemistry

8.

Kaucsár, T., Jávorszky, E., Antal, V., Madar, L., Balogh, I., Tory, K.: Vese-coloboma szindróma: PAX2 mutáció nyomában.
Gyermekgyógyászat 72 (3), 225-225, 2021.

DEA

9.

Juhász, L., Balogh, I., Madar, L., Kovács, B., Harangi, M.: A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient.
Cureus. 12 (12), 1-5, 2020.

doi DEA

10.

Mezei, Z. A., Tornai, D., Földesi, R., Madar, L., Sümegi, A., Papp, M., Antal-Szalmás, P.: A DNA pool of FLT3-ITD positive DNA samples can be used efficiently for analytical evaluation of NGS-based FLT3-ITD quantitation: testing several different ITD sequences and rates, simultaneously.
J. Biotechnol. 303, 25-29, 2019.

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Journal metrics:

Q1 Applied Microbiology and Biotechnology

Q2 Bioengineering

Q1 Biotechnology

Q1 Medicine (miscellaneous)

11.

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.

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Journal metrics:

Q1 Applied Microbiology and Biotechnology

Q2 Bioengineering

Q1 Biotechnology

Q1 Medicine (miscellaneous)

12.

Ivády, G., Madar, L., Dzsudzsák, E., Koczok, K., Kappelmayer, J., Krulisova, V., Macek, J. M., Horváth, A., Balogh, I.: Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.
BMC Genomics. 19, 1-8, 2018.

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Journal metrics:

D1 Biotechnology

Q1 Genetics

13.

Koczok, K., Merő, G., P. Szabó, G., Madar, L., Gombos, É., Ajzner, É., Mótyán, J. A., Hortobágyi, T., Balogh, I.: A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy.
Neuromusc. Disord. 28 (2), 129-136, 2018.

DEA

Journal metrics:

Q2 Genetics (clinical)

Q2 Neurology

Q1 Neurology (clinical)

Q1 Pediatrics, Perinatology and Child Health

14.

Szabó, T., Orosz, P., Balogh, E., Jávorszky, E., Máttyus, I., Bereczki, C., Maróti, Z., Kalmár, T., Szabó, A., Reusz, G., Várkonyi, I., Marián, E., Gombos, É., Orosz, O., Madar, L., Balla, G., Kappelmayer, J., Tory, K., Balogh, I.: Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Pediatr. Nephrol. 33 (10), 1713-1721, 2018.

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Journal metrics:

Q1 Nephrology

Q1 Pediatrics, Perinatology and Child Health

15.

Koczok, K., Gombos, É., Madar, L., Török, O., Balogh, I.: Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing.
Prenat. Diagn. 38 (9), 713-719, 2018.

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Journal metrics:

Q2 Genetics (clinical)

D1 Obstetrics and Gynecology

16.

Molnár, Z., Balogh, L., Kappelmayer, J., Madar, L., Gombos, É., Balogh, I.: Congenital hyperinsulinism caused by a de novo mutation in the ABCC8 gene: a case report.
eJIFCC. 8 (28), 85-91, 2017.

DEA

17.

Zádori, D., Szpisjak, L., Madar, L., Varga, V. E., Csányi, B., Bencsik, K., Balogh, I., Harangi, M., Kereszty, É., Vécsei, L., Klivényi, P.: Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.
Neurol. Sci. 38 (3), 481-483, 2017.

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Journal metrics:

Q2 Dermatology

Q2 Medicine (miscellaneous)

Q2 Neurology (clinical)

Q2 Psychiatry and Mental Health

18.

László, B., Ferenczi, A., Madar, L., Gyöngyösi, E., Szalmás, A., Szakács, L., Veress, G., Kónya, J.: CpG methylation in human papillomavirus (HPV) type 31 long control region (LCR) in cervical infections associated with cytological abnormalities.
Virus Genes. 52 (4), 552-555, 2016.

doi DEA

Journal metrics:

Q3 Genetics

Q2 Medicine (miscellaneous)

Q3 Molecular Biology

Q3 Virology

19.

Ivády, G., Koczok, K., Madar, L., Gombos, É., Tóth, I., Győri, K., Balogh, I.: Molecular Analysis of Cystic Fibrosis Patients in Hungary - an Update to the Mutational Spectrum.
J. Med. Biochem. 34, 1-6, 2015.

DEA

Journal metrics:

Q3 Biochemistry (medical)

Q4 Clinical Biochemistry

20.

Varga, V. E., Katkó, M., Harangi, J., Balogh, I., Kapás, I., Madar, L., Seres, I., Molnár, M. J., Paragh, G., Kovács, G. G., Harangi, M.: Egy ritka, veleszületett neurodegeneratív betegség: a cerebrotendinosus xanthomatosis laboratóriumi diagnosztikája.
Orv. Hetil. 155 (21), 811-816, 2014.

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Journal metrics:

Q3 Medicine (miscellaneous)

21.

Ivády, G., Madar, L., Nagy, B., Gönczi, F., Ajzner, É., Dzsudzsák, E., Dvorakova, L., Gombos, É., Kappelmayer, J., Macek, J. M., Balogh, I.: Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis?.
J. Cyst. Fibros. 10 (3), 217-220, 2011.

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Journal metrics:

Q1 Pediatrics, Perinatology and Child Health

Q1 Pulmonary and Respiratory Medicine

Publication list