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Semmelweis Publications

Balicza, Péter Semmelweis University affiliated publications (2020-2025)

Number of publications: 14

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...

EUROPEAN JOURNAL OF HUMAN GENETICS 1018-4813 1476-5438

2021.

DOI:10.1038/s41431-021-00859-0 (Copy DOI)

Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,

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;

EUROPEAN JOURNAL OF HUMAN GENETICS 1018-4813 1476-5438

2021.

DOI:10.1038/s41431-021-00852-7 (Copy DOI)

Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,

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

NEUROLOGICAL SCIENCES

2024.

DOI:10.1007/s10072-023-07213-w (Copy DOI)

Semmelweis University authors: Szlepák, Tamás, Csabán, Dóra, Illés, Anett, Udvari, Szabolcs, Balicza, Péter, Borsos, Beáta, Takáts, Annamária, Molnár, Mária Judit,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Internal Medicine and Oncology, Department of Neurology,

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

FRONTIERS IN PSYCHIATRY

2023.

DOI:10.3389/fpsyt.2023.1301272 (Copy DOI)

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,

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

NEUROLOGICAL SCIENCES

2022.

DOI:10.1007/s10072-022-06168-8 (Copy DOI)

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,

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

NEUROLOGY-GENETICS

2020.

DOI:10.1212/NXG.0000000000000515 (Copy DOI)

Semmelweis University authors: Balicza, Péter, Gál, Anikó, Grosz, Zoltán, Csabán, Dóra, Rudas, Gábor, Danics, Krisztina, Molnár, Mária Judit,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Patológiai, Igazságügyi és Biztosítási Orvostani Intézet, Orvosi Képalkotó Klinika, Department of Forensic Medicine,

Wernicke-Korsakoff syndrome associated with mtDNA disease

Jimoh, IJ;Sebe, B;Balicza, P;Fedor, M;Pataky, I;Rudas, G;Gal, A;Inczedy-Farkas, G;Nemeth, G;Molnar, MJ

THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS

2020.

DOI:10.1177/1756286420938972 (Copy DOI)

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,

Hereditary Parkinson's disease as a new clinical manifestation of the damaged POLG gene

Illés, A;Balicza, P;Gál, A;Pentelényi, K;Csabán, D;Gézsi, A;Molnár, V;Mária, JM

ORVOSI HETILAP

2020.

DOI:10.1556/650.2020.31724 (Copy DOI)

Semmelweis University authors: Illés, Anett, Balicza, Péter, Gál, Anikó, Pentelényi, Klára, Csabán, Dóra, Gézsi, András, Molnár, Viktor, Molnár, Mária Judit,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,

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

FRONTIERS IN GENETICS

2021.

DOI:10.3389/fgene.2021.628904 (Copy DOI)

Semmelweis University authors: Balicza, Péter, Rudas, Gábor, Gál, Anikó, Molnár, Mária Judit,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Orvosi Képalkotó Klinika, Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket),

10.

A teljes exom szekvenálás klinikai hasznossága a ritka betegségek diagnosztikájában

Balicza, Péter; Balicza-Ripka, Eszter; Molnár, Mária Judit;

ORVOSTOVÁBBKÉPZŐ SZEMLE 1218-2583

2022.

Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,

11.

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...

GENETICS IN MEDICINE 1098-3600 1530-0366

2023.

DOI:10.1016/j.gim.2023.100018 (Copy DOI)

Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,

12.

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,...

Human Genetics and Genomics Advances 2666-2477 2666-2477

2023.

DOI:10.1016/j.xhgg.2023.100186 (Copy DOI)

Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,

13.

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...

HUMAN GENOMICS 1473-9542 1479-7364

2023.

DOI:10.1186/s40246-023-00485-5 (Copy DOI)

Semmelweis University authors: Balicza, Péter, Molnár, Mária Judit,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,

14.

Az autizmus spektrum zavar genetikai aspektusai

Varga, Noémi Ágnes; Balicza, Péter; Molnár, Mária Judit;

ORVOSTOVÁBBKÉPZŐ SZEMLE 1218-2583

2024.

Semmelweis University authors: Varga, Noémi-Ágnes, Balicza, Péter, Molnár, Mária Judit,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases,