Semmelweis Publications
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    • Genomic Medicine and the Institute of Rare Diseases - Publications (2021-2026)

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    Number of publications: 86
    1.
    Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
    Wallace, EL;Goker-Alpan, O;Wilcox, WR;Holida, M;Bernat, J;Longo, N;Linhart, A;Hughes, DA;Hopkin, RJ;Tondel, C;Langeveld, M;Giraldo, P;Pisani, A;Germain, DP;Mehta, A;Deegan, PB;Molnar, MJ;Ortiz, D;Jovanovic, A;Muriello, M;Barshop, BA;Kimonis, V;Vujkovac, B;Nowak, A;Geberhiwot, T;Kantola, I;Knoll, J;Waldek, S;Nedd, K;Karaa, A;Brill-Almon, E;Alon, S;Chertkoff, R;Rocco, R;Sakov, A;Warnock, DG
    Q1
    JOURNAL OF MEDICAL GENETICS
    2024.
    DOI:10.1136/jmg-2023-109445 (Copy DOI)
    2.
    Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy The MMPOWER-3 Randomized Clinical Trial
    Karaa, A;Bertini, E;Carelli, V;Cohen, BH;Enns, GM;Falk, MJ;Goldstein, A;Gorman, GS;Haas, R;Hirano, M;Klopstock, T;Koenig, MK;Kornblum, C;Lamperti, C;Lehman, A;Longo, N;Molnar, MJ;Parikh, S;Phan, H;Pitceathly, RDS;Saneto, R;Scaglia, F;Servidei, S;Tarnopolsky, M;Toscano, A;Van Hove, JLK;Vissing, J;Vockley, J;Finman, JS;Brown, DA;Shiffer, JA;Mancuso, M
    D1
    NEUROLOGY
    2023.
    DOI:10.1212/WNL.0000000000207402 (Copy DOI)
    3.
    Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial
    Koehler, W;Engelen, M;Eichler, F;Lachmann, R;Fatemi, A;Sampson, J;Salsano, E;Gamez, J;Molnar, MJ;Pascual, S;Rovira, M;Vila, A;Pina, G;Martin-Ugarte, I;Mantilla, A;Pizcueta, P;Rodriguez-Pascau, L;Traver, E;Vilalta, A;Pascual, M;Martinell, M;Meya, U;Mochel, F
    D1
    LANCET NEUROLOGY
    2023.
    DOI:10.1016/S1474-4422(22)00495-1 (Copy DOI)
    4.
    Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
    Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.; Schuele, Rebecca; Synofzik, Matthis; Topf, Ana; de, Voer Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; 't, Hoen Peter A. C.; Vitobello, Antonio; Schulze-Hentrich, Julia M.; Riess, Olaf; Brunner, Han G.; Brookes, Anthony J.; Rath, Ana; Bonne, Gisele; Gumus, Gulcin; Verloes, Alain; Hoogerbrugge, Nicoline; Evangelista, Teresinha; Harmuth, Tina; Swertz, Morris; Spalding, Dylan; Hoischen, Alexander...
    Q1
    EUROPEAN JOURNAL OF HUMAN GENETICS 1018-4813 1476-5438
    2021.
    DOI:10.1038/s41431-021-00859-0 (Copy DOI)
    5.
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
    Matalonga, Leslie; Hernandez-Ferrer, Carles; Piscia, Davide; Schuele, Rebecca; Synofzik, Matthis; Topf, Ana; Vissers, Lisenka E. L. M.; de, Voer Richarda; Tonda, Raul; Laurie, Steven; Fernandez-Callejo, Marcos; Pico, Daniel; Garcia-Linares, Carles; Papakonstantinou, Anastasios; Corvo, Alberto; Joshi, Ricky; Diez, Hector; Gut, Ivo; Hoischen, Alexander; Graessner, Holm; Beltran, Sergi; , ; Balicza, P; Molnár, MJ;
    Q1
    EUROPEAN JOURNAL OF HUMAN GENETICS 1018-4813 1476-5438
    2021.
    DOI:10.1038/s41431-021-00852-7 (Copy DOI)
    6.
    Melanoma-associated fibroblasts impair CD8+T cell function and modify expression of immune checkpoint regulators via increased arginase activity
    Érsek, B;Silló, P;Cakir, U;Molnár, V;Bencsik, A;Mayer, B;Mezey, E;Kárpáti, S;Pós, Z;Németh, K
    D1
    CELLULAR AND MOLECULAR LIFE SCIENCES
    2021.
    DOI:10.1007/s00018-020-03517-8 (Copy DOI)
    7.
    Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
    Karaa, A;Bertini, E;Carelli, V;Cohen, B;Ennes, GM;Falk, MJ;Goldstein, A;Gorman, G;Haas, R;Hirano, M;Klopstock, T;Koenig, MK;Kornblum, C;Lamperti, C;Lehman, A;Longo, N;Molnar, MJ;Parikh, S;Phan, H;Pitceathly, RDS;Saneto, R;Scaglia, F;Servidei, S;Tarnopolsky, M;Toscano, A;Van Hove, JLK;Vissing, J;Vockley, J;Finman, JS;Abbruscato, A;Brown, DA;Sullivan, A;Shiffer, JA;Mancuso, M
    Q1
    ORPHANET JOURNAL OF RARE DISEASES
    2024.
    DOI:10.1186/s13023-024-03421-5 (Copy DOI)
    8.
    Improving Mood and Cognitive Symptoms in Huntington's Disease With Cariprazine Treatment
    Molnar, MJ;Molnar, V;Fedor, M;Csehi, R;Acsai, K;Borsos, B;Grosz, Z
    Q1
    FRONTIERS IN PSYCHIATRY
    2022.
    DOI:10.3389/fpsyt.2021.825532 (Copy DOI)
    9.
    Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)
    Nanetti, L;Kearney, M;Boesch, S;Stovickova, L;Ortigoza-Escobar, JD;Macaya, A;Gomez-Andres, D;Roze, E;Molnar, MJ;Wolf, NI;Darling, A;Vasco, G;Bertini, E;Indelicato, E;Neubauer, D;Haack, TB;Sagi, JC;Danti, FR;Sival, D;Zanni, G;Kolk, A;Boespflug-Tanguy, O;Schols, L;van de Warrenburg, B;Vidailhet, M;Willemsen, MA;Buizer, AI;Orzes, E;Ripp, S;Reinhard, C;Moroni, I;Mariotti, C
    Q1
    NEUROLOGICAL SCIENCES
    2024.
    DOI:10.1007/s10072-023-07101-3 (Copy DOI)
    10.
    The European Reference Network for Rare Neurological Diseases
    Reinhard, C;Bachoud-Lévi, AC;Bäumer, T;Bertini, E;Brunelle, A;Buizer, AI;Federico, A;Gasser, T;Groeschel, S;Hermanns, S;Klockgether, T;Krägeloh-Mann, I;Landwehrmeyer, GB;Leber, I;Macaya, A;Mariotti, C;Meissner, WG;Molnar, MJ;Nonnekes, J;Escobar, JDO;Dueñas, BP;Linton, LR;Schöls, L;Schuele, R;Tijssen, MAJ;Vandenberghe, R;Volkmer, A;Wolf, NI;Graessner, H
    Q1
    FRONTIERS IN NEUROLOGY
    2021.
    DOI:10.3389/fneur.2020.616569 (Copy DOI)
    11.
    Insights into eye genetics and recent advances in ocular gene therapy
    Szabó, V;Varsányi, B;Barboni, M;Takács, A;Knézy, K;Molnár, MJ;Nagy, ZZ;György, B;Rivolta, C
    Q3
    MOLECULAR AND CELLULAR PROBES
    2025.
    DOI:10.1016/j.mcp.2025.102008 (Copy DOI)
    12.
    What Are the Normal Serum Creatine Kinase Values for Skeletal Muscle? A Worldwide Systematic Review
    Aleksovska, K;Kyriakides, T;Angelini, C;Argov, Z;Claeys, KG;de Visser, M;Filosto, M;Jovanovic, I;Kostera-Pruszczyk, A;Molnar, MJ;Sacconi, S;Schaefer, J;Siciliano, G;Vilchez, JJ;Toscano, A;Schoser, B
    Q1
    EUROPEAN JOURNAL OF NEUROLOGY
    2025.
    DOI:10.1111/ene.70240 (Copy DOI)
    13.
    GDF-15 and mtDNA Deletions Are Useful Biomarkers of Mitochondrial Dysfunction in Insulin Resistance and PCOS
    Varhegyi, V;Modos, A;Trager, D;Gerszi, D;Horvath, EM;Sipos, M;Acs, N;Molnar, MJ;Varbiro, S;Gal, A
    D1
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
    2024.
    DOI:10.3390/ijms252010916 (Copy DOI)
    14.
    Awareness and care practices for rare neurologic diseases among senior neurologists: A global survey
    Jang, DG;Federico, A;Savelieff, MG;Grisold, W;Mancuso, M;Molnar, MJ;Feldman, EL;Reynolds, EL
    Q1
    JOURNAL OF THE NEUROLOGICAL SCIENCES
    2025.
    DOI:10.1016/j.jns.2025.123395 (Copy DOI)
    15.
    Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort
    Jimoh, IJ;Balicza, P;Szlepak, T;Csaban, D;Gal, A;Geresi, A;Grosz, Z;Palasti, A;Boczan, J;Klivenyi, P;Molnar, MJ
    Q2
    CLINICAL GENETICS
    2025.
    DOI:10.1111/cge.14719 (Copy DOI)
    16.
    The improvement of motor symptoms in Huntington's disease during cariprazine treatment
    Csehi, R;Molnar, V;Fedor, M;Zsumbera, V;Palasti, A;Acsai, K;Grosz, Z;Nemeth, G;Molnar, MJ
    Q1
    ORPHANET JOURNAL OF RARE DISEASES
    2023.
    DOI:10.1186/s13023-023-02930-z (Copy DOI)
    17.
    MiR-128-3p as blood based liquid biopsy biomarker in childhood acute lymphoblastic leukemia
    Rzepiel, A;Horváth, A;Kutszegi, N;Gézsi, A;Sági, JC;Almási, L;Egyed, B;Lorinz, P;Visnovitz, T;Kovács, GT;Szalai, C;Semsei, AF;Erdélyi, DJ
    Q3
    MOLECULAR AND CELLULAR PROBES
    2023.
    DOI:10.1016/j.mcp.2023.101893 (Copy DOI)
    18.
    Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations
    Nagy, ZF;Pál, M;Engelhardt, JI;Molnár, MJ;Klivényi, P;Széll, M
    Q3
    BMC MEDICAL GENOMICS
    2024.
    DOI:10.1186/s12920-024-01807-9 (Copy DOI)
    19.
    GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights
    Szlepák, T;Kossev, AP;Csabán, D;Illés, A;Udvari, S;Balicza, P;Borsos, B;Takáts, A;Klivényi, P;Molnár, MJ
    Q1
    NEUROLOGICAL SCIENCES
    2024.
    DOI:10.1007/s10072-023-07213-w (Copy DOI)
    20.
    Genome-Wide, Non-Invasive Prenatal Testing for rare chromosomal abnormalities: A systematic review and meta-analysis of diagnostic test accuracy
    Konya, M;Czimbalmos, A;Loczi, L;Koi, T;Turan, C;Nagy, R;Acs, N;Hegyi, P;Varbiro, S;Gal, A
    Q1
    PLOS ONE
    2024.
    DOI:10.1371/journal.pone.0308008 (Copy DOI)
    21.
    Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
    Selvatici, R;Rossi, R;Fortunato, F;Trabanelli, C;Sifi, Y;Margutti, A;Neri, M;Gualandi, F;Szabò, L;Fekete, B;Angelova, L;Litvinenko, I;Ivanov, I;Vildan, Y;Iuhas, OA;Vintan, M;Burloiu, C;Lacramioara, B;Visa, G;Epure, D;Rusu, C;Vasile, D;Sandu, M;Vlodavets, D;Mager, M;Kyriakides, T;Delin, S;Lehman, I;Fures, JS;Bojinova, V;Militaru, M;Guergueltcheva, V;Burnyte, B;Molnar, MJ;Butoianu, N;Bensemmane, SD;Makri-Mokrane, S;Herczegfalvi, A;Panzaru, M;Emandi, AC;Lusakowska, A;Potulska-Chromik, A;Kostera-Pr...
    Q1
    NEUROLOGY-GENETICS
    2021.
    DOI:10.1212/NXG.0000000000000536 (Copy DOI)
    22.
    How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey
    Mancuso, M;Houlden, H;Molnar, MJ;Filla, A;Breza, M;Graessner, H;Bassetti, CLA;Boesch, S
    Q1
    EUROPEAN JOURNAL OF NEUROLOGY
    2022.
    DOI:10.1111/ene.15320 (Copy DOI)
    23.
    Genetic landscape of early-onset dementia in Hungary
    Csaban, D;Illes, A;Renata, TB;Balicza, P;Pentelenyi, K;Molnar, V;Gezsi, A;Grosz, Z;Gal, A;Kovacs, T;Klivenyi, P;Molnar, MJ
    Q1
    NEUROLOGICAL SCIENCES
    2022.
    DOI:10.1007/s10072-022-06168-8 (Copy DOI)
    24.
    Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
    Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E L M; Laurie, Steven; , ; Riess, Olaf; Haack, Tobias B; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Ma...
    D1
    NPJ GENOMIC MEDICINE 2056-7944 2056-7944
    2024.
    DOI:10.1038/s41525-024-00436-6 (Copy DOI)
    25.
    Variant Transthyretin Amyloidosis (ATTRv) in Hungary: First Data on Epidemiology and Clinical Features
    Pozsonyi, Z;Peskó, G;Takács, H;Csuka, D;Nagy, V;Szilágyi, A;Hategan, L;Muk, B;Csányi, B;Nyolczas, N;Dézsi, L;Molnár, JM;Csillik, A;Révész, K;Iványi, B;Szabó, F;Birtalan, K;Masszi, T;Arányi, Z;Sepp, R
    Q2
    GENES
    2021.
    DOI:10.3390/genes12081152 (Copy DOI)
    26.
    Results of neonatal for spinal muscular atrophy in in 2023
    Mikos, B;Molnár, MJ;Szatmári, I;Monostori, P;Bereczki, C;Szabó, AJ;Szabó, L;Csosz, K;Muzsik, B;Velkey, GJ
    Q4
    ORVOSI HETILAP
    2024.
    DOI:10.1556/650.2024.33080 (Copy DOI)
    27.
    Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel
    Molnar, MJ;Szabó, L;Vladacenco, OA;Cobzaru, AM;Dor, T;Dori, A;Papadimas, G;Juríková, L;Litvinenko, I;Tournev, I;Dixon, C
    Q1
    ORPHANET JOURNAL OF RARE DISEASES
    2024.
    DOI:10.1186/s13023-024-03270-2 (Copy DOI)
    28.
    Polymyositis and rhabdomyolysis caused by hepatocellular carcinoma-Case report and literature review
    Bárdos, D;Molnár, MJ;Dudás, I;Tuza, S;Szijártó, A;Hahn, O
    Q3
    ANNALS OF MEDICINE AND SURGERY
    2021.
    DOI:10.1016/j.amsu.2021.102269 (Copy DOI)
    29.
    Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting
    Viti, F;De Giorgio, R;Ceccherini, I;Ahluwalia, A;Alves, MM;Baldo, C;Baldussi, G;Bonora, E;Borrelli, O;Dall'Oglio, L;De Coppi, P;De Filippo, C;Barbara, PD;Diamanti, A;Di Lorenzo, C;Di Maulo, R;Galeone, A;Gandullia, P;Hashmi, SK;Lacaille, F;Lancon, L;Leone, S;Mahe, MM;Molnar, MJ;Palmitelli, A;Perin, S;Prato, AP;Thapar, N;Vassalli, M;Heuckeroth, RO
    Q1
    DIGESTIVE DISEASES AND SCIENCES
    2023.
    DOI:10.1007/s10620-023-08066-1 (Copy DOI)
    30.
    Sex steroid hormones and epilepsy: Effects of hormonal replacement therapy on seizure frequency of postmenopausal women with epilepsy-A systematic review
    Carvalho, V;Colonna, I;Curia, G;Ferretti, MT;Arabia, G;Molnar, MJ;Lebedeva, ER;Moro, E;de Visser, M;Bui, E
    Q1
    EUROPEAN JOURNAL OF NEUROLOGY
    2023.
    DOI:10.1111/ene.15916 (Copy DOI)
    31.
    Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene
    Boros, FA;Szpisjak, L;Bozó, R;Kelemen, E;Zádori, D;Salamon, A;Danis, J;Kalmar, T;Maróti, Z;Molnár, MJ;Klivényi, P;Széll, M;Adám, É
    D1
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
    2023.
    DOI:10.3390/ijms24032617 (Copy DOI)
    32.
    Probing the biological consequences of a previously undescribed de novo mutation of ZMYND11 in a schizophrenia patient by CRISPR genome editing and induced pluripotent stem cell based in vitro disease-modeling
    Tordai, C;Hathy, E;Gyergyák, H;Vincze, K;Baradits, M;Koller, J;Póti, A;Jezsó, B;Homolya, L;Molnár, MJ;Nagy, L;Szüts, D;Apáti, A;Réthelyi, JM
    Q1
    SCHIZOPHRENIA RESEARCH
    2024.
    DOI:10.1016/j.schres.2024.01.024 (Copy DOI)
    33.
    The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer's Disease
    Csaban, D;Pentelenyi, K;Toth-Bencsik, R;Illes, A;Grosz, Z;Gezsi, A;Molnar, MJ
    Q2
    LIFE-BASEL
    2021.
    DOI:10.3390/life11040321 (Copy DOI)
    34.
    Real-Life Clinical Experience With Cariprazine: A Systematic Review of Case Studies
    Csehi, R;Dombi, ZB;Sebe, B;Molnár, MJ
    Q1
    FRONTIERS IN PSYCHIATRY
    2022.
    DOI:10.3389/fpsyt.2022.827744 (Copy DOI)
    35.
    Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications
    Balicza, P;Gezsi, A;Fedor, M;Sagi, JC;Gal, A;Varga, NA;Molnar, MJ
    Q1
    FRONTIERS IN PSYCHIATRY
    2024.
    DOI:10.3389/fpsyt.2023.1301272 (Copy DOI)
    36.
    Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry
    Pizzamiglio, C;Pitceathly, RDS;Lunn, MP;Brady, S;De Marchi, F;Galan, L;Heckmann, JM;Horga, A;Molnar, MJ;Oliveira, ASB;Pinto, WBVR;Primiano, G;Santos, E;Schoser, B;Servidei, S;Souza, PVS;Venugopalan, V;Hanna, MG;Dimachkie, MM;Machado, PM
    Q1
    EUROPEAN JOURNAL OF NEUROLOGY
    2023.
    DOI:10.1111/ene.15613 (Copy DOI)
    37.
    Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey
    El-Hassar, L;Amara, A;Sanson, B;Lacatus, O;Belhouchet, AA;Kroneman, M;Claeys, K;Plançon, JP;Rodolico, C;Primiano, G;Trojsi, F;Filosto, M;Mongini, TE;Bortolani, S;Monforte, M;Carraro, E;Maggi, L;Ricci, F;Silani, V;Orsucci, D;Créange, A;Péréon, Y;Stojkovic, T;van der Beek, NAME;Toscano, A;Pareyson, D;Attarian, S;Van den Bergh, PYK;Remiche, G;Hoeijmakers, JGJ;Badrising, U;Voermans, NC;Kaindl, AM;Schara-Schmidt, U;Schoser, B;Gazzerro, E;Haberlová, J;Vohánka, S;Pál, E;Molnar, MJ;Leonardis, L;T...
    Q2
    JOURNAL OF NEUROMUSCULAR DISEASES
    2023.
    DOI:10.3233/JND-221525 (Copy DOI)
    38.
    Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants
    Salamon, A;Nagy, ZF;Pál, M;Szabó, M;Csosz, A;Szpisjak, L;Gárdián, G;Zádori, D;Széll, M;Klivényi, P
    D1
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
    2023.
    DOI:10.3390/ijms241310745 (Copy DOI)
    39.
    The transition of children with rare diseases from pediatric to adult care
    Judit, MM;Judit, CS;Léna, S;Zoltán, G
    Q4
    ORVOSI HETILAP
    2022.
    DOI:10.1556/650.2022.32660 (Copy DOI)
    40.
    Prohibited Olympic Medalist with PIEZO1 VUS Who Claims Innocence
    Sonkodi, B;Kovats, T;Gálik, B;Tompa, M;Urbán, P;Nagy, ZF;Acs, P;Tóth, M;Gyenesei, A
    D1
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
    2024.
    DOI:10.3390/ijms252111842 (Copy DOI)
    41.
    Positive association and future perspectives of mitochondrial DNA copy number and telomere length - a pilot twin study
    Melicher, D;Illés, A;Littvay, L;Tárnoki, AD;Tárnoki, DL;Bikov, A;Kunos, L;Csabán, D;Buzás, EI;Molnár, MJ;Falus, A
    Q2
    ARCHIVES OF MEDICAL SCIENCE
    2021.
    DOI:10.5114/aoms.2019.83173 (Copy DOI)
    42.
    Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy
    Kárteszi, J;Ziegler, A;Tihanyi, M;Elmont, B;Zhang, YB;Patócs, B;Molnár, MJ;Méhes, G;Wells, K;Jakus, R;Bessenyei, B;Ranatunga, W;Morava, E
    Q2
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A
    2023.
    DOI:10.1002/ajmg.a.63340 (Copy DOI)
    43.
    New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family
    Toth-Bencsik, R;Balicza, P;Varga, ET;Lengyel, A;Rudas, G;Gal, A;Molnar, MJ
    Q2
    FRONTIERS IN GENETICS
    2021.
    DOI:10.3389/fgene.2021.628904 (Copy DOI)
    44.
    Hungarian Genomic Data Warehouse supporting the healthy ageing research
    Várhegyi, V;Molnár, V;Gérsi, A;Sárközy, P;Antal, P;Mária, JM
    Q4
    ORVOSI HETILAP
    2021.
    DOI:10.1556/650.2021.32131 (Copy DOI)
    45.
    Personalized treatment options for spinal muscular atrophy
    Szabó-Taylor, K;Molnár, MJ
    Q4
    IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE
    2023.
    DOI:10.18071/isz.76.0077 (Copy DOI)
    46.
    Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease
    Gal, A;Grosz, Z;Borsos, B;Szatmari, I;Sebok, A;Jávor, L;Harmath, V;Szakszon, K;Dezsi, L;Balku, E;Jobbagy, Z;Herczegfalvi, A;Almássy, Z;Kerényi, L;Molnar, MJ
    Q2
    LIFE-BASEL
    2021.
    DOI:10.3390/life11060507 (Copy DOI)
    47.
    The Growing Role of Telerehabilitation and Teleassessment in the Management of Movement Disorders in Rare Neurological Diseases: A Scoping Review
    Lavorgna, L;Maida, E;Reinhard, C;Cras, P;Reetz, K;Molnar, MJ;Nonnekes, J;Medijainen, K;Summa, S;Diserens, K;Petrarca, M;Albanese, A;Leocani, L;Delussi, M;Vinciguerra, C;Pagliano, E;Kubica, J;Lallemant, P;Wenning, G;Sival, D;Srsen, KG;Bertini, ES;Lopane, G;Boesch, S;Bonavita, S;Crosiers, D;Muresanu, D;Timmann, D;Federico, A
    Q1
    TELEMEDICINE AND E-HEALTH
    2024.
    DOI:10.1089/tmj.2023.0702 (Copy DOI)
    48.
    Sharing sensitive research data in the practice of personalised medicine
    Molnar, V;Cs Sagi, J;Molnar, MJ
    Q4
    ORVOSI HETILAP
    2023.
    DOI:10.1556/650.2023.32759 (Copy DOI)
    49.
    Case report: The spectrum of SMPD1 pathogenic variants in Hungary
    Molnar, MJ;Szlepak, T;Csürke, I;Loth, S;Káposzta, R;Erdos, M;Dezsofi, A
    Q2
    FRONTIERS IN GENETICS
    2023.
    DOI:10.3389/fgene.2023.1158108 (Copy DOI)
    50.
    CONSENSUS STATEMENT OF THE HUNGARIAN CLINICAL NEUROGENIC SOCIETY ABOUT THE THERAPY OF ADULT SMA PATIENTS
    Boczán, J;Klivényi, P;Kálmán, B;Széll, M;Karcagi, V;Zádori, D;Molnár, MJ
    Q4
    IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE
    2021.
    DOI:10.18071/isz.74.0079 (Copy DOI)
    51.
    Osteopathia striata with cranial sclerosis: A rare case of a young male patient
    Liptak, BZ;Molnar, V;Molnar, MJ;Marton, N
    Q4
    IMAGING
    2025.
    DOI:10.1556/1647.2025.00344 (Copy DOI)
    52.
    THE IMPORTANCE OF PATIENT REPORTED OUTCOME MEASURES IN POMPE DISEASE
    Molnár, MJ;Molnár, V;László, I;Szegedi, M;Varhegyi, V;Grosz, Z
    Q4
    IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE
    2021.
    DOI:10.18071/isz.74.0105 (Copy DOI)
    53.
    Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy
    Hegedus, K;Lénárt, I;Xue, AD;Monostori, PB;Baráth, A;Mikos, B;Udvari, S;Géresi, A;Szabó, AJ;Bereczki, C;Molnár, MJ;Szatmári, I
    Q1
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING
    2025.
    DOI:10.3390/ijns11020029 (Copy DOI)
    54.
    Antisynthetase syndrome causing progressive gait disturbance
    Györfi, O;Szirmai, D;Benko-Zaja, G;Benko, Z;Molnár, MJ;Kamondi, A
    Q2
    PRACTICAL NEUROLOGY
    2025.
    DOI:10.1136/pn-2025-004570 (Copy DOI)
    55.
    Pattern of Regulatory T Cells, Resident Memory T Cells, and Exhausted T Cells in Human Pericardial Fluid Samples of Cardiovascular Patients
    Érsek, B;Opra, J;Fekete, N;Ifju, M;Molnár, V;Bugyik, E;Pállinger, É;Székely, A;Radovits, T;Merkely, B;Buzás, EI
    D1
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
    2025.
    DOI:10.3390/ijms26209852 (Copy DOI)
    56.
    Genetic Variants in SDC3, KCNA2, KCNK1, KCNK16, and Heat Shock Transcription Factor-1 Genes: An Exploratory Analysis Supporting the Piezo2 Channelopathy Hypothesis in Amyotrophic Lateral Sclerosis Onset
    Sonkodi, B;Nagy, ZF;Keller-Pintér, A;Klivényi, P;Molnár, MJ;Széll, M
    D1
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
    2025.
    DOI:10.3390/ijms262010218 (Copy DOI)
    57.
    Mitochondrial DNA Deletions and Plasma GDF-15 Protein Levels Are Linked to Hormonal Dysregulation and Multi-Organ Involvement in Female Reproductive Endocrine Disorders
    Varhegyi, V;Banfi, B;Trager, D;Gerszi, D;Horvath, EM;Sipos, M;Acs, N;Molnar, MJ;Varbiro, S;Gal, A
    Q1
    LIFE-BASEL
    2025.
    DOI:10.3390/life15111744 (Copy DOI)
    58.
    Electrophysiological indices of reward anticipation as ADHD risk and prognostic biomarkers
    Bunford, N;Agrez, K;Hámori, G;Koller, J;Pulay, A;Nemoda, Z;Réthelyi, JM
    D1
    EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
    2025.
    DOI:10.1007/s00787-024-02606-4 (Copy DOI)
    59.
    Elevated Urinary Titin in Adult Spinal Muscular Atrophy: A Multicenter, Cross-Sectional Observational Study
    Sipos, A;Ripszám, ER;Molnár, JM;Grosz, Z;Boczán, J;Altorjay, MB;Dézsi, L;Csáti, A;Babarczy, K;Kovács, N;Hajdu, N;Pál, E
    Q2
    NEUROLOGY INTERNATIONAL
    2025.
    DOI:10.3390/neurolint17080114 (Copy DOI)
    60.
    Severe steroid-related neuropsychiatric symptoms during paediatric acute lymphoblastic leukaemia therapy-An observational Ponte di Legno Toxicity Working Group Study
    Anastasopoulou, S;Swann, G;Andres-Jensen, L;Attarbaschi, A;Barzilai-Birenboim, S;Erdelyi, DJ;Escherich, G;Hamadeh, L;Harila, A;Lopez-Lopez, E;McGowan, S;Möricke, A;Putti, C;Sagi, JC;Schmiegelow, K;Ullrich, NJ;van der Sluis, IM;Wahid, QUA;Winick, N;Sramkova, L;Zalcberg, Y;Zapotocka, E;Bhojwani, D;Halsey, C
    Q1
    BRITISH JOURNAL OF HAEMATOLOGY
    2024.
    DOI:10.1111/bjh.19610 (Copy DOI)
    61.
    Huntington's disease presenting with schizophreniform psychosis and narcolepsy in the premotor phase
    Gyöngyi, S;Szegedi, M;Bálint, S;Hidasi, Z;Molnár, MJ;Réthelyi, J;Tombor, L
    Q4
    ORVOSI HETILAP
    2025.
    DOI:10.1556/650.2025.33430 (Copy DOI)
    62.
    Oculocutaneous albinism type 1B associated with allelic combination of a risk haplotype
    Nagy, N;Abdolreza, A;Pál, M;Bokor, BA;Barcsay-Veres, A;Varga, NA;Medvecz, M;Szabó, V;Széll, M
    D1
    JOURNAL OF DERMATOLOGICAL SCIENCE
    2025.
    DOI:10.1016/j.jdermsci.2025.04.007 (Copy DOI)
    63.
    Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
    Diaz-Manera, Jordi; S Kishnani, Priya; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; T van der Ploeg, Ans; I Berger, Kenneth; R Clemens, Paula; Chien, Yin-Hsiu; W Day, John; Illarioshkin, Sergey; Roberts, Mark; Attarian, Shahram; Lindolfo Borges, Joao; Bouhour, Francoise; Chul Choi, Young; Erdem-Ozdamar, Sevim; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; An Haack, Kristina; Hug, Christopher; Huynh-Ba, Olivier; Johnson, Judith; Thibault, Nathan; Zhou, Tianyu...
    D1
    LANCET NEUROLOGY 1474-4422 1474-4465
    2021.
    DOI:10.1016/S1474-4422(21)00241-6 (Copy DOI)
    64.
    Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
    Schoser, Benedikt; Roberts, Mark; Byrne, Barry J; Sitaraman, Sheela; Jiang, Hai; Laforêt, Pascal; Toscano, Antonio; Castelli, Jeff; Díaz-Manera, Jordi; Goldman, Mitchell; der Ploeg, Ans Tvan; Bratkovic, Drago; Kuchipudi, Srilakshmi; Mozaffar, Tahseen; Kishnani, Priya S; Sebok, Agnes; Pestronk, Alan; Dominovic-Kovacevic, Aleksandra; , ; Khan, Aneal; Koritnik, Blaž; Tard, Celine; Lindberg, Christopher; Quinn, Colin; Eldridge, Crystal; Bodkin, Cynthia; Reyes-Leiva, David; Hughes, Derralynn; Stef...
    D1
    LANCET NEUROLOGY 1474-4422 1474-4465
    2021.
    DOI:10.1016/S1474-4422(21)00331-8 (Copy DOI)
    65.
    Mi a szerepe a genetikai tanácsadásnak az onkológiai betegségek esetén?
    Zeke, H; Fekete, BA; Molnár, MJ;
    ORVOSKÉPZÉS 0030-6037
    2021.
    66.
    A teljes exom szekvenálás klinikai hasznossága a ritka betegségek diagnosztikájában
    Balicza, Péter; Balicza-Ripka, Eszter; Molnár, Mária Judit;
    ORVOSTOVÁBBKÉPZŐ SZEMLE 1218-2583
    2022.
    67.
    Mitochondrialis DNS-betegség és a háromszülős gyermek
    Borsos, B; Molnár, MJ;
    ORVOSTOVÁBBKÉPZŐ SZEMLE 1218-2583
    2022.
    68.
    Mapping of European activities on the integration of sex and gender factors in neurology and neuroscience.
    Hentzen, Nina B; Ferretti, Maria Teresa; Santuccione, Antonella; Jaarsma, Joke; de Visser, Marianne; Moro, Elena; Hege Aamodt, Anne; , ; Arabia, Gennarina; Aybeck, Selma; Carvalho, Vanessa; de Visser, Marianne; Teresa Ferretti, Maria; Goudier, Riadh; Grisold, Wolfgang; Lebedeva, Elena R; Jaarsma, Joke; Matczack, Magda; Magyari, Melinda; Maria Judit, Molnar; Moro, Elena; Rakusa, Martin; Pajediene, Evelina; Tracy, Irene; Vonck, Kristl;
    Q1
    EUROPEAN JOURNAL OF NEUROLOGY 1351-5101 1468-1331
    2022.
    DOI:10.1111/ene.15439 (Copy DOI)
    69.
    Cornealis polymegathismus és retinalis pigmenthám-eltérések MELAS-szindrómában
    István, Lilla; Benyó, Fruzsina; Csorba, Anita; Jimoh, Idris János; Gál, Anikó; Molnár, Mária Judit; Nagy, Zoltán Zsolt; Szabó, Viktória;
    SZEMÉSZET / OPHTHALMOLOGIA HUNGARICA 0039-8101 2786-3832
    2022.
    DOI:10.55342/SZEMHUNGARICA.2022.159.2.69 (Copy DOI)
    70.
    A mitochondrialis betegségek diagnosztikai és kezelési lehetőségei 2021-ben
    Jimoh, IJ; Molnár, MJ;
    ORVOSTOVÁBBKÉPZŐ SZEMLE 1218-2583
    2022.
    71.
    Rare and Complex Urology: Clinical Overview of ERN eUROGEN
    Oomen, Loes; Leijte, Erik; Shilhan, Darren E.; Battye, Michelle; Waltregny, David; Van, der Aa Frank; Spinoit, Anne-Françoise; Rösch, Wolfgang H.; Schmiedeke, Eberhard; Fisch, Margit; Märzheuser, Stefanie; Gosemann, Jan-Hendrik; Hubertus, Jochen; Rawashdeh, Yazan; Thorup, Jorgen; Heloury, Yves; Leva, Ernesto; Mancini, Mariangela; Bagolan, Pietro; Sacco, Emilio; Verkauskas, Gilvydas; Feitz, Wout; Sloots, Cornelius; Czauderna, Piotr; Mauricio, Maria; Holmdahl, Gundela; Abrahamsson, Kate; Thomas...
    D1
    EUROPEAN UROLOGY 0302-2838 1873-7560 1421-993X
    2022.
    DOI:10.1016/j.eururo.2021.02.043 (Copy DOI)
    72.
    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
    Denommé-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; B Haack, Tobias; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marçais, Nolwenn; Kleefstra, Tjitske; López-Martín, Estrella; Macek, Milan; Antonietta Mencarelli, Maria; Moutton, Sébastien; Pfundt, Rolph; Pizzi...
    D1
    GENETICS IN MEDICINE 1098-3600 1530-0366
    2023.
    DOI:10.1016/j.gim.2023.100018 (Copy DOI)
    73.
    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
    Jackson, Adam; Lin, Sheng-Jia; Jones, Elizabeth A; Chandler, Kate E; Orr, David; Moss, Celia; Haider, Zahra; Ryan, Gavin; Holden, Simon; Harrison, Mike; Burrows, Nigel; Jones, Wendy D; Loveless, Mary; Petree, Cassidy; Stewart, Helen; Low, Karen; Donnelly, Deirdre; Lovell, Simon; Drosou, Konstantina; Varshney, Gaurav K; , ; Banka, Siddharth; Ambrose, J C; Arumugam, P; Bevers, R; Bleda, M; , ; Boardman-Pretty, F; Boustred, C R; Brittain, H; Brown, M A; Caulfield, M J; Chan, G C; Giess, A; Griffin,...
    Q1
    Human Genetics and Genomics Advances 2666-2477 2666-2477
    2023.
    DOI:10.1016/j.xhgg.2023.100186 (Copy DOI)
    74.
    Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks
    Kishnani, Priya S; Diaz-Manera, Jordi; Toscano, Antonio; Clemens, Paula R; Ladha, Shafeeq; Berger, Kenneth I; Kushlaf, Hani; Straub, Volker; Carvalho, Gerson; Mozaffar, Tahseen; Roberts, Mark; Attarian, Shahram; Chien, Yin-Hsiu; Choi, Young-Chul; Day, John W; Erdem-Ozdamar, Sevim; Illarioshkin, Sergey; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; van der Ploeg, Ans T; An Haack, Kristina; Huynh-Ba, Olivier; Tammireddy, Swathi; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M; Schoser, Benedikt...
    D1
    JAMA NEUROLOGY 2168-6149 2168-6157
    2023.
    DOI:10.1001/jamaneurol.2023.0552 (Copy DOI)
    75.
    Új korszak a veleszületett gerincvelői izomsorvadás terén
    Mikos, Borbála; Szatmári, Ildikó; Monostori, Péter; Molnár, Mária Judit; Bereczki, Csaba; Szabó, Attila; Csõsz, Katalin; Muzsik, Béla; Velkey, György János;
    GYERMEKGYÓGYÁSZAT 0017-5900
    2023.
    76.
    A magyar Huntington-kóros betegek és családjaik életminőségének elemzése
    Szalai, Klára Szilvia; Molnár, Mária Judit; Molnár, Viktor; Ács, Andrea;
    NŐVÉR 0864-7003 1588-1423
    2023.
    DOI:10.55608/nover.36.0029 (Copy DOI)
    77.
    A DiGeorge-Szindróma mint az egyik leggyakoribb mikrodeléciós kórkép
    Varga, Noémi Ágnes; Molnár, Mária Judit;
    ORVOSTOVÁBBKÉPZŐ SZEMLE 1218-2583
    2023.
    78.
    Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
    Yaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Corominas Galbany, Jordi; Rinne, Tuula; Yntema, Helger G; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; , ; Riess, Olaf; Haack, Tobias B; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Hol...
    Q1
    HUMAN GENOMICS 1473-9542 1479-7364
    2023.
    DOI:10.1186/s40246-023-00485-5 (Copy DOI)
    79.
    An interconnected data infrastructure to support large-scale rare disease research.
    Johansson, Lennart F; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Coline; Piscia, Davide; de Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner, Han; Cimerman, Sandi; Dizjikan, Farid Yavari; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; van de Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephan; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; van der Velde, K Joeri; Veal, Colin; v...
    D1
    GIGASCIENCE 2047-217X 2047-217X
    2024.
    DOI:10.1093/gigascience/giae058 (Copy DOI)
    80.
    Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.
    Kishnani, Priya S; Byrne, Barry J; Claeys, Kristl G; Díaz-Manera, Jordi; Dimachkie, Mazen M; Kushlaf, Hani; Mozaffar, Tahseen; Roberts, Mark; Schoser, Benedikt; Hummel, Noemi; Kopiec, Agnieszka; Holdbrook, Fred; Shohet, Simon; Toscano, Antonio; Sebok, Agnes; , ; Pestronk, Alan; Dominovic-Kovacevic, Aleksandra; Khan, Aneal; Koritnik, Blaž; Tard, Celine; Lindberg, Christopher; Quinn, Colin; Eldridge, Crystal; Bodkin, Cynthia; Reyes-Leiva, David; Hughes, Derralynn; Stefanescu, Ela; Salort-Campana...
    Q2
    JOURNAL OF PATIENT-REPORTED OUTCOMES 2509-8020
    2024.
    DOI:10.1186/s41687-024-00805-w (Copy DOI)
    81.
    AI-alapú neurogenetikai diagnosztikus eszközök
    Molnár, Viktor; Molnár, Mária Judit;
    ORVOSTOVÁBBKÉPZŐ SZEMLE 1218-2583
    2024.
    82.
    104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease : a phase III open-label extension study (ATB200-07)
    Schoser, Benedikt; Kishnani, Priya S; Bratkovic, Drago; Byrne, Barry J; Claeys, Kristl G; Díaz-Manera, Jordi; Laforêt, Pascal; Roberts, Mark; Toscano, Antonio; van der Ploeg, Ans T; Castelli, Jeff; Goldman, Mitchell; Holdbrook, Fred; Sitaraman Das, Sheela; Wasfi, Yasmine; Mozaffar, Tahseen; , ; Sebok, Agnes; Pestronk, Alan; Dominovic-Kovacevic, Aleksandra; Khan, Aneal; Koritnik, Blaž; Tard, Celine; Lindberg, Christopher; Quinn, Colin; Eldridge, Crystal; Bodkin, Cynthia; Reyes-Leiva, David; Hu...
    Q1
    JOURNAL OF NEUROLOGY 0340-5354 1432-1459
    2024.
    DOI:10.1007/s00415-024-12236-0 (Copy DOI)
    83.
    Az autizmus spektrum zavar genetikai aspektusai
    Varga, Noémi Ágnes; Balicza, Péter; Molnár, Mária Judit;
    ORVOSTOVÁBBKÉPZŐ SZEMLE 1218-2583
    2024.
    84.
    RePOWER : An International, Prospective, Non‐Interventional Registry of Patients With Primary Mitochondrial Myopathy
    Karaa, Amel; Goldstein, Amy; Cohen, Bruce H.; Haas, Richard H.; Vockley, Jerry; Gorman, Gráinne S.; Mancuso, Michelangelo; RePOWER, MMPOWER-3; MOTOR, investigators; Enrico, Bertini; Maria, Judit Molnar; John, Vissing; Mary, Kay Koenig; Cornelia, Kornblum; Costanza, Lamperti; Sumit, Parikh; Gregory, Enns; Johan, Van Hove; Thomas, Klopstock; Serenella, Servidei; Nicola, Longo; Michio, Hirano; Antonio, Toscano; Valerio, Carelli; Marni, Falk; RobertD.S., Pitceathly; Anna, Lehman; Fernando, Scaglia;...
    Q2
    CLINICAL GENETICS 0009-9163 1399-0004
    2025.
    DOI:10.1111/cge.70026 (Copy DOI)
    85.
    Discordant findings in genome-wide non-invasive prenatal testing (GW-NIPT) for rare chromosomal abnormalities, adverse pregnancy outcomes, and maternal malignancies: a systematic review and meta-analysis.
    Konya, Marton; Czimbalmos, Agnes; Elias, Mate; Tidrenczel, Zsolt; Koi, Tamas; Amorim, das Virgens Isabel Pinto; Acs, Nandor; Nyirady, Peter; Hegyi, Peter; Varbiro, Szabolcs; Gal, Aniko;
    D1
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY 0002-9378 1097-6868
    2025.
    DOI:10.1016/j.ajog.2025.11.029 (Copy DOI)
    86.
    Impact of Proteinuria on Renal Outcomes in the BALANCE trial
    Wallace, Eric L.; Wanner, Christoph; Piotti, Giovanni; Lee, David; Koulinska, Irene; Chertkoff, Raul; Wallace, Eric L.; Goker-Alpan, Ozlem; Wilcox, William R.; Holida, Myrl; Bernat, John; Longo, Nicola; Linhart, Aleš; Hughes, Derralynn A.; Hopkin, Robert J.; Tøndel, Camilla; Langeveld, Mirjam; Giraldo, Pilar; Pisani, Antonio; Germain, Dominique Paul; Mehta, Ankit; Deegan, Patrick B.; Molnar, Maria Judit; Ortiz, Damara; Jovanovic, Ana; Muriello, Michael; Barshop, Bruce A.; Kimonis, Virginia; Vu...
    D1
    KIDNEY INTERNATIONAL REPORTS 2468-0249 2468-0249
    2025.
    DOI:10.1016/j.ekir.2025.11.016 (Copy DOI)

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