Publications by authors named "Tibor Kalmar"

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The genetic origin of Huns, Avars, and conquering Hungarians.
Zoltán Maróti, Endre Neparáczki, Oszkár Schütz, Kitti Maár, Gergely I B Varga, Bence Kovács, Tibor Kalmár, Emil Nyerki, István Nagy, Dóra Latinovics

Curr Biol· July 2022

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Y-chromosome haplogroups from Hun, Avar and conquering Hungarian period nomadic people of the Carpathian Basin.
Endre Neparáczki, Zoltán Maróti, Tibor Kalmár, Kitti Maár, István Nagy, Dóra Latinovics, Ágnes Kustár, György Pálfi, Erika Molnár, Antónia Marcsik

Sci Rep· November 2019

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Intellectual developmental disorder 56 associated with novel variants in the clathrin heavy chain encoding CLTC gene and brief review of the literature.
Tibor Kalmár, Viktor Vedelek, Zoltán Maróti, Marianna Csenki, László Sztriha

Neurol Sci· December 2025

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Fibronectin Glomerulopathy Without Typical Renal Biopsy Features in a 4-Year-Old Girl with Incidentally Discovered Proteinuria and a G417V Gene Mutation.
Tibor Kalmár, Dániel Jakab, Zoltán Maróti, Gyula Pásztor, Sándor Turkevi-Nagy

Int J Mol Sci· January 2025

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Temporal transcriptional profiling of host cells infected by a veterinary alphaherpesvirus using nanopore sequencing.
Dóra Tombácz, Zoltán Maróti, Péter Oláh, Ákos Dörmő, Gábor Gulyás

Sci Rep· January 2025

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A Patient Diagnosed with Mosaic Trisomy 18 Presenting New Symptoms: Diaphragmatic Relaxation and Cyclic Vomiting Syndrome. Updated Review of Mosaic Trisomy 18 Cases.
Magdolna Kósa, Emese Horváth, Tibor Kalmár, Zoltán Maróti, Imre Földesi

J Pediatr Genet· December 2024

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Optimizing sequence data analysis using convolution neural network for the prediction of CNV bait positions.
Zoltán Maróti, Peter Juma Ochieng, József Dombi, Miklós Krész, Tibor Kalmár

BMC Bioinformatics· December 2024

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Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study.
Tamás Fehér, Noémi Széll, István Nagy, Zoltán Maróti, Tibor Kalmár

Orphanet J Rare Dis· October 2024

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The ASAP study: association of atherosclerosis with pathobiology in a caucasian cohort-a study of 3400 autopsy reports.
Andrea Emese Jakab, Mátyás Bukva, Zoltán Maróti, Tibor Kalmár, István Raskó

Sci Rep· October 2024

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Phenotypic and Genotypic Features of the Mutation-Related Disease in a Large Hungarian Family.
Ildikó Császár, Tibor Kalmár, Zoltán Maróti, János Ávéd, Edit Szederkényi

Int J Mol Sci· May 2024

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The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases.
Tibor Kalmár, Dániel Jakab, Zoltán Maróti, Orsolya Lakatos, Tibor Vas

Int J Mol Sci· January 2024

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Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis.
Tibor Kalmár, Sándor Turkevi-Nagy, László Bitó, László Kaiser, Zoltán Maróti

Int J Mol Sci· December 2023

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[A rare tubulopathy: Dent's disease in the background of focal segmental glomerular sclerosis].
Dániel Jakab, Zoltán Maróti, Béla Iványi, Csaba Bereczki, Tibor Kalmár

Orv Hetil· May 2023

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Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report.
Sára Pálla, Pálma Anker, Klára Farkas, Dóra Plázár, Sándor Kiss

BMC Pediatr· March 2023

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correctKin: an optimized method to infer relatedness up to the 4th degree from low-coverage ancient human genomes.
Emil Nyerki, Tibor Kalmár, Oszkár Schütz, Rui M Lima, Endre Neparáczki

Genome Biol· February 2023

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Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the Gene.
Fanni Annamária Boros, László Szpisjak, Renáta Bozó, Evelyn Kelemen, Dénes Zádori

Int J Mol Sci· January 2023

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Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient.
Péter Klivényi, László Szpisjak, András Salamon, Viola Luca Németh, Noémi Szépfalusi

Ideggyogy Sz· January 2023

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Hemizygous nonsense variant in the moesin gene leads to a new autoimmune phenotype of Immunodeficiency 50.
András L Kovács, Judit Kárteszi, Zoltán Prohászka, Tibor Kalmár, Gábor Késmárky

Front Immunol· September 2022

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[CYP24A1 gene defect manifesting with gestational hypercalcemia].
Andrea Györkös, Judit Tőke, Gábor Sohár, Mónika Kovács, Jenő Goldfinger

Orv Hetil· July 2022

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Atypical presentation of late-onset Sandhoff disease: a case report.
András Salamon, László Szpisjak, Dénes Zádori, István Lénárt, Zoltán Maróti

Ideggyogy Sz· November 2021

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Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series.
András Salamon, Dénes Zádori, Anikó Ujfalusi, László Szpisjak, Melinda Lukács

Metab Brain Dis· October 2021

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Time course profiling of host cell response to herpesvirus infection using nanopore and synthetic long-read transcriptome sequencing.
Zoltán Maróti, Dóra Tombácz, Norbert Moldován, Gábor Torma, Victoria A Jefferson

Sci Rep· July 2021

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A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.
Tibor Kalmár, Katalin Szakszon, Zoltán Maróti, Alíz Zimmermann, Adrienn Máté

J Pediatr Genet· June 2021

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Time-course transcriptome analysis of host cell response to poxvirus infection using a dual long-read sequencing approach.
Zoltán Maróti, Dóra Tombácz, István Prazsák, Norbert Moldován, Zsolt Csabai

BMC Res Notes· June 2021

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Correction to: Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study.
Laszlo Szpisjak, Gabor Szaraz, Andras Salamon, Viola L Nemeth, Noemi Szepfalusi, Tibor Kalmar

BMC Neurosci· March 2021

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Maternal Lineages from 10-11th Century Commoner Cemeteries of the Carpathian Basin.
Kitti Maár, Gergely I B Varga, Bence Kovács, Oszkár Schütz, Zoltán Maróti

Genes (Basel)· March 2021

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