1.
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 et al.
Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.
JOURNAL OF PATIENT-REPORTED OUTCOMES 8 : 1 Paper: 132 , 9 p. (2024)
DOI WoS Scopus PubMed
Publication:35598457 Validated Core Journal Article (Study Group ) Scientific
Study Group (Journal Article) | Scientific[35598457] [Validated]
2.
Karaa, Amel ✉ ; Bertini, Enrico ; Carelli, Valerio ; Cohen, Bruce ; Ennes, Gregory M ; Falk, Marni J ; Goldstein, Amy ; Gorman, Gráinne ; Haas, Richard ; Hirano, Michio et al.
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
ORPHANET JOURNAL OF RARE DISEASES 19 : 1 Paper: 431 , 12 p. (2024)
DOI Scopus PubMed
Publication:35598424 Validated Core Journal Article (Study Group ) Scientific
Study Group (Journal Article) | Scientific[35598424] [Validated]
3.
Bunford, Nóra ✉ ; Ágrez, Kristóf ; Hámori, György ; Koller, Júlia ; Pulay, Attila ; Nemoda, Zsófia ; Réthelyi, János M.
Electrophysiological indices of reward anticipation as ADHD risk and prognostic biomarkers
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY Paper: in press (2024)
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Publication:35516593 Published Core Citing Journal Article (Article ) Scientific
Article (Journal Article) | Scientific[35516593] [Approved]
4.
Konya, Marton ; Czimbalmos, Agnes ; Loczi, Lotti ; Koi, Tamas ; Turan, Caner ; Nagy, Rita ; Acs, Nandor ; Hegyi, Peter ; Varbiro, Szabolcs ; Gal, Aniko ✉
Genome-Wide, Non-Invasive Prenatal Testing for rare chromosomal abnormalities : A systematic review and meta-analysis of diagnostic test accuracy
PLOS ONE 19 : 11 Paper: e0308008 , 19 p. (2024)
DOI WoS Scopus PubMed
Publication:35508493 Validated Core Citing Journal Article (Survey paper ) Scientific
Survey paper (Journal Article) | Scientific[35508493] [Validated]
5.
Johansson, Lennart F ; Laurie, Steve ; Spalding, Dylan ; Gibson, Spencer ; Ruvolo, David ; Thomas, Coline ; Piscia, Davide ; de Andrade, Fernanda ; Been, Gerieke ; Bijlsma, Marieke et al.
An interconnected data infrastructure to support large-scale rare disease research.
GIGASCIENCE 13 Paper: giae058 (2024)
DOI Scopus PubMed
Publication:35503121 Validated Core Citing Journal Article (Study Group ) Scientific
Study Group (Journal Article) | Scientific[35503121] [Validated]
6.
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 et al.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
NPJ GENOMIC MEDICINE 9 : 1 Paper: 49 , 24 p. (2024)
DOI Scopus PubMed
Publication:35503119 Validated Core Citing Journal Article (Study Group ) Scientific
Study Group (Journal Article) | Scientific[35503119] [Validated]
7.
Sonkodi, Balázs ✉ ; Kováts, Tímea* ; Gálik, Bence ; Tompa, Márton ; Urbán, Péter ; Nagy, Zsófia Flóra ; Ács, Pongrác ; Tóth, Miklós ; Gyenesei, Attila
Prohibited Olympic Medalist with PIEZO1 VUS Who Claims Innocence
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 25 : 21 Paper: 11842 , 12 p. (2024)
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Publication:35500061 Validated Core Citing Journal Article (Article ) Scientific
Citing papers: 1 | Independent citation: 0 | Self citation: 1 | Unknown citation: 0 | Number of citations in WoS: 1 | Number of citations in Scopus: 1 | WoS/Scopus assigned: 1 | Number of citations with DOI: 1
Article (Journal Article) | Scientific[35500061] [Validated]
All citations+mentions: 1, External citations: 0, Self citations: 1, Unhandled citations: 0
8.
Várhegyi, Vera ; Módos, Anna ; Trager, Domonkos ; Gerszi, Dóra ; Horváth, Eszter Mária ; Sipos, Miklós ; Ács, Nándor ; Molnár, Mária Judit ; Várbíró, Szabolcs** ; Gál, Anikó ✉
GDF-15 and mtDNA Deletions Are Useful Biomarkers of Mitochondrial Dysfunction in Insulin Resistance and PCOS
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 25 : 20 Paper: 10916 , 17 p. (2024)
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Publication:35452708 Validated Core Citing Journal Article (Article ) Scientific
Citing papers: 1 | Independent citation: 1 | Self citation: 0 | Unknown citation: 0 | Number of citations in WoS: 1 | WoS/Scopus assigned: 1 | Number of citations with DOI: 1
Article (Journal Article) | Scientific[35452708] [Validated]
All citations+mentions: 1, External citations: 1, Self citations: 0, Unhandled citations: 0
9.
Molnár, Viktor ; Molnár, Mária Judit
AI-alapú neurogenetikai diagnosztikus eszközök: Mesterséges intelligenciát alkalmazó megoldások a neurogenetikai diagnosztikában
ORVOSTOVÁBBKÉPZŐ SZEMLE 2024 : 5 pp. 41-49. , 9 p. (2024)
SE Repozitórium Other URL
Publication:35163235 Validated Core Journal Article (Survey paper ) Scientific
Survey paper (Journal Article) | Scientific[35163235] [Validated]
10.
Varga, Noémi Ágnes ✉ ; Balicza, Péter ; Molnár, Mária Judit
Az autizmus spektrum zavar genetikai aspektusai
ORVOSTOVÁBBKÉPZŐ SZEMLE 2024 : 4 pp. 34-40. , 7 p. (2024)
SE Repozitórium Other URL
Publication:35163229 Validated Core Journal Article (Survey paper ) Scientific
Survey paper (Journal Article) | Scientific[35163229] [Validated]
2025-01-13 00:50