Genomic Medicine and the Institute of Rare Diseases - Publications (article, review) in SJR Q1 and Q2 jorunals (2019-2023)
Number of publications: 49
1.
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.
Semmelweis University authors: Molnár, Mária Judit, Grosz, Zoltán,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
2.
Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce H; Enns, Gregory M; Falk, Marni J; Goldstein, Amy; Gorman, Gráinne Siobhan; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D S; Saneto, Russell; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L K; Vissing, John; Vockley, Jerry; Finman, ...
D1
NEUROLOGY 0028-3878 1526-632X
2023.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
3.
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.
Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
4.
Szabó, L;Gergely, A;Jakus, R;Fogarasi, A;Grosz, Z;Molnár, MJ;Andor, I;Schulcz, O;Goschler, A;Medveczky, E;Czövek, D;Herczegfalvi, A
Q1
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
2020.
Semmelweis University authors: Szabó, Léna, Fogarasi, András, Grosz, Zoltán, Molnár, Mária Judit, Andor, Ildikó, Goschler, Ádám, Czövek, Dorottya,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Pediatrics, II. Department of Pediatrics, I. Department of Pediatrics,
5.
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.
Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
6.
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.
Semmelweis University authors: Molnár-Érsek, Barbara, Silló, Pálma, Cakir, Ugur, Molnár, Viktor, Bencsik, András, Mayer, Balázs, Kárpáti, Sarolta, Pós, Zoltán, Németh, Krisztián,
7.
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; Vujkovac, Bojan; Nowak, Albina; Geberhiwot, Tarekegn; Kantola, Ilkka; Knoll, Jasmine; Waldek, Stephen; Nedd, K...
Q1
JOURNAL OF MEDICAL GENETICS 0022-2593 1468-6244
2023.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
8.
Molnar, MJ;Molnar, V;Fedor, M;Csehi, R;Acsai, K;Borsos, B;Grosz, Z
Q1
FRONTIERS IN PSYCHIATRY
2022.
Semmelweis University authors: Molnár, Mária Judit, Molnár, Viktor, Fedor, Mariann, Csehi, Réka, Borsos, Beáta, Grosz, Zoltán,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
9.
Reinhard, Carola; Bachoud-Lévi, Anne-Catherine; Bäumer, Tobias; Bertini, Enrico; Brunelle, Alicia; Buizer, Annemieke I.; Federico, Antonio; Gasser, Thomas; Groeschel, Samuel; Hermanns, Sanja; Klockgether, Thomas; Krägeloh-Mann, Ingeborg; Landwehrmeyer, G. Bernhard; Leber, Isabelle; Macaya, Alfons; Mariotti, Caterina; Meissner, Wassilios G.; Molnar, Maria Judit; Nonnekes, Jorik; Ortigoza, Escobar Juan Dario; Pérez, Dueñas Belen; Renna, Linton Lori; Schöls, Ludger; Schuele, Rebecca; Tijssen,...
Q1
FRONTIERS IN NEUROLOGY 1664-2295 1664-2295
2021.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
10.
Stengl, R;Bors, A;Agg, B;Pólos, M;Matyas, G;Molnár, MJ;Fekete, B;Csabán, D;Andrikovics, H;Merkely, B;Radovits, T;Szabolcs, Z;Benke, K
Q1
ORPHANET JOURNAL OF RARE DISEASES
2020.
Semmelweis University authors: Stengl, Roland, Bors, András, Ágg, Bence, Pólos, Miklós, Molnár, Mária Judit, Fekete, Bálint András, Csabán, Dóra, Andrikovics, Hajnalka, Merkely, Béla Péter, Radovits, Tamás, Szabolcs, Zoltán, Benke, Kálmán,
11.
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)
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
12.
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.
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Pediatrics, II. Department of Pediatrics,
13.
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)
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
14.
Czipa, E;Schiller, M;Nagy, T;Kontra, L;Steiner, L;Koller, J;Pálné-Szén, O;Barta, E
D1
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
2020.
Semmelweis University authors: Koller, Júlia,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
15.
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.
Semmelweis University authors: Csehi, Réka, Molnár, Viktor, Fedor, Mariann, Palásti, Ágnes, Grosz, Zoltán, Németh, György, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
16.
Molnar, MJ;Jimoh, IJ;Zeke, H;Palásti, A;Fedor, M
Q1
FRONTIERS IN PHARMACOLOGY
2020.
Semmelweis University authors: Molnár, Mária Judit, Jimoh, Idris János, Zeke, Helga, Palásti, Ágnes, Fedor, Mariann,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
17.
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.
Semmelweis University authors: Csabán, Dóra, Illés, Anett, Balicza, Péter, Pentelényi, Klára, Molnár, Viktor, Gézsi, András, Grosz, Zoltán, Gál, Anikó, Kovács, Tibor, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Neurology,
18.
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)
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
19.
Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability
Balicza, P;Bencsik, R;Lengyel, A;Gal, A;Grosz, Z;Csaban, D;Rudas, G;Danics, K;Kovacs, GG;Molnar, MJ
Q1
NEUROLOGY-GENETICS
2020.
Semmelweis University authors: Balicza, Péter, Gál, Anikó, Grosz, Zoltán, Csabán, Dóra, Rudas, Gábor, Danics, Krisztina, Molnár, Mária Judit,
20.
Hathy, E;Szabó, E;Varga, N;Erdei, Z;Tordai, C;Czehlár, B;Baradits, M;Jezsó, B;Koller, J;Nagy, L;Molnár, MJ;Homolya, L;Nemoda, Z;Apáti, A;Réthelyi, JM
D1
STEM CELL RESEARCH & THERAPY
2020.
Semmelweis University authors: Hathy, Edit Margit, Tordai, Csongor, Baradits, Máté, Koller, Júlia, Molnár, Mária Judit, Nemoda, Zsófia, Apáti, Ágota, Réthelyi, János,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Biokémiai és Molekuláris Biológiai Intézet, Molekuláris Biológiai Tanszék, Genomic Medicine and the Institute of Rare Diseases, Pszichiátriai és Pszichoterápiás Klinika, Department of Medical Chemistry, Molecular Biology and Pathobiochemistry,
21.
Balicza, P;Gezsi, A;Fedor, M;Sagi, JC;Gal, A;Varga, NA;Molnar, MJ
Q1
FRONTIERS IN PSYCHIATRY
2023.
Semmelweis University authors: Balicza, Péter, Gézsi, András, Fedor, Mariann, C. Sági, Judit, Gál, Anikó, Varga, Noémi-Ágnes, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
22.
El-Hassar, L.; Amara, A.; Sanson, B.; Lacatus, O.; Amir, Belhouchet A.; Kroneman, M.; Claeys, K.; Plançon, J.P.; Rodolico, C.; Primiano, G.; Trojsi, F.; Filosto, M.; Mongini, T.E.; Bortolani, S.; Monforte, M.; Carraro, E.; Maggi, L.; Ricci, F.; Silani, V.; Orsucci, D.; Créange, A.; Péréon, Y.; Stojkovic, T.; van, der Beek N.A.M.E.; Toscano, A.; Pareyson, D.; Attarian, S.; Van, den Bergh P.Y.K.; Remiche, G.; Hoeijmakers, J.G.J.; Badrising, U.; Voermans, N.C.; Kaindl, A.M.; Schara-Schmidt, U.;...
Q2
JOURNAL OF NEUROMUSCULAR DISEASES 2214-3599 2214-3602
2023.
DOI:10.3233/JND-221525 (Copy DOI)
Semmelweis University authors: Pál, Endre, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
23.
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.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
24.
Balicza, P;Varga, NA;Bolgár, B;Pentelényi, K;Bencsik, R;Gál, A;Gézsi, A;Prekop, C;Molnár, V;Molnár, MJ
Q1
FRONTIERS IN GENETICS
2019.
Semmelweis University authors: Balicza, Péter, Varga, Noémi-Ágnes, Pentelényi, Klára, Gál, Anikó, Gézsi, András, Molnár, Viktor, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
25.
Buza , K;Peska, L;Koller, J
D1
PLOS ONE
2020.
Semmelweis University authors: Koller, Júlia,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
26.
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.
Semmelweis University authors: Pozsonyi, Zoltán, Peskó, Gergely, Csuka, Dorottya, Szilágyi, Ágnes, Molnár, Mária Judit, Csillik, Anita, Révész, Katalin, Szabó, Fruzsina, Masszi, Tamás, Arányi, Zsuzsanna,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Belgyógyászati és Hematológiai Klinika, Department of Neurology,
27.
Angelini, C;Marozzo, R;Pinzan, E;Pegoraro, V;Molnar, MJ;Torella, A;Nigro, V
Q1
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
2019.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
28.
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)
Semmelweis University authors: Csabán, Dóra, Pentelényi, Klára, Illés, Anett, Grosz, Zoltán, Gézsi, András, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
29.
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.
Semmelweis University authors: Nagy, Zsófia Flóra,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
30.
Csehi, R;Dombi, ZB;Sebe, B;Molnár, MJ
Q1
FRONTIERS IN PSYCHIATRY
2022.
Semmelweis University authors: Csehi, Réka, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
31.
Jimoh, IJ;Sebe, B;Balicza, P;Fedor, M;Pataky, I;Rudas, G;Gal, A;Inczedy-Farkas, G;Nemeth, G;Molnar, MJ
Q1
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
2020.
Semmelweis University authors: Jimoh, Idris János, Balicza, Péter, Fedor, Mariann, Rudas, Gábor, Gál, Anikó, Inczédy-Farkas, Gabriella, Németh, György, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Orvosi Képalkotó Klinika,
32.
Illés, A;Csabán, D;Grosz, Z;Balicza, P;Gézsi, A;Molnár, V;Bencsik, R;Gál, A;Klivényi, P;Molnar, MJ
Q1
FRONTIERS IN GENETICS
2019.
Semmelweis University authors: Illés, Anett, Csabán, Dóra, Grosz, Zoltán, Balicza, Péter, Gézsi, András, Molnár, Viktor, Gál, Anikó, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
33.
Gal, Z;Gézsi, A;Molnár, V;Nagy, A;Kiss, A;Sultész, M;Csoma, Z;Tamási, L;Gálffy, G;Bálint, BL;Póliska, S;Szalai, C
Q2
FRONTIERS IN GENETICS
2020.
Semmelweis University authors: Gál, Zsófia, Gézsi, András, Molnár, Viktor, Sultész, Monika, Tamási, Lilla, Gálffy, Gabriella, Bálint, Bálint László, Szalai, Csaba,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Genetics, Cell- and Immunology, Genomic Medicine and the Institute of Rare Diseases, Department of Pulmonology,
34.
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.
Semmelweis University authors: Melicher, Dóra, Illés, Anett, Tárnoki, Ádám Domonkos, Tárnoki, Dávid László, Kunos, László, Csabán, Dóra, Buzás, Edit Irén, Molnár, Mária Judit, Falus, András,
35.
Illés, A;Balicza, P;Molnár, V;Bencsik, R;Szilvási, I;Molnar, MJ
Q1
BMC NEUROLOGY
2019.
Semmelweis University authors: Illés, Anett, Balicza, Péter, Molnár, Viktor, Szilvási, István, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
36.
Toth-Bencsik, R;Balicza, P;Varga, ET;Lengyel, A;Rudas, G;Gal, A;Molnar, MJ
Q2
FRONTIERS IN GENETICS
2021.
37.
Szatmari, B;Balicza, P;Nemeth, G;Molnar, MJ
Q1
CURRENT MEDICINAL CHEMISTRY
2019.
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
38.
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)
Semmelweis University authors: Gál, Anikó, Grosz, Zoltán, Borsos, Beáta, Szatmári, Ildikó, Almássy, Zsuzsanna, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Pediatrics, I. Department of Pediatrics, II. Department of Pediatrics,
39.
Molnar, MJ;Szlepak, T;Csürke, I;Loth, S;Káposzta, R;Erdos, M;Dezsofi, A
Q2
FRONTIERS IN GENETICS
2023.
Semmelweis University authors: Molnár, Mária Judit, Szlepák, Tamás, Lóth, Szendile, Erdős, Melinda, Dezsőfi-Gottl, Antal,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Dermatology, Dermatooncology and Venerology, Department of Pediatrics,
40.
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)
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
41.
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)
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
42.
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.
Semmelweis University authors: Molnár, Mária Judit, Grosz, Zoltán,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
43.
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.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
44.
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)
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
45.
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.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
46.
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.
Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
47.
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
2023.
Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
48.
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.
Semmelweis University authors: Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
49.
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.
Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,
Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,
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