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| Personal data sheet |
 Print previewpersonal data approved: 2024. II. 22. | Publications |
2024
 from data base, 2024. II. 22. |
Nagy Nikoletta, Pál Margit, Nagy Dóra, Bokor Barbara Anna, Zimmermann Aliz, Gellén Balázs, Salamon András, Sztriha László, Klivényi Péter, Széll Márta: A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder., BMC PEDIATRICS 24: (1) p. 47.
type of document: Journal paper/Article
language: English
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2021
from data base, 2024. II. 22. |
Kalmár Tibor, Szakszon Katalin, Maróti Zoltán, Zimmermann Alíz, Máté Adrienn, Zombor Melinda, Bereczki Csaba, Sztriha László: A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia, JOURNAL OF PEDIATRIC GENETICS 10: (2) pp. 159-163.
type of document: Journal paper/Article
number of independent citations: 2
language: English
URL |
2020
from data base, 2024. II. 22. |
Kalmár Tibor, Maróti Zoltán, Zimmermann Alíz, Sztriha László: Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1, BRAIN & DEVELOPMENT 43: (1) pp. 144-151.
type of document: Journal paper/Article
number of independent citations: 7
language: English
URL |
2019
from data base, 2024. II. 22. |
Zombor Melinda, Kalmár Tibor, Nagy Nikoletta, Berényi Marianne, Telcs Borbála, Maróti Zoltán, Brandau Oliver, Sztriha László: A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature, JOURNAL OF APPLIED GENETICS 60: (2) pp. 151-162.
type of document: Journal paper/Article
number of independent citations: 15
language: English
URL |
2019
from data base, 2024. II. 22. |
Gauquelin Laurence, Cayami Ferdy K., Sztriha Laszlo, Yoon Grace, Tran Luan T., Guerrero Kether, Hocke Francois, van Spaendonk Rosalina M. L., Fung Eva L., D'Arrigo Stefano, Vasco Gessica, Thiffault Isabelle, Niyazov Dmitriy M., Person Richard, Lewis Kara Stuart, Wassmer Evangeline, Prescott Trine, Fallon Penny, McEntagart Meriel, Rankin Julia, Webster Richard, Philippi Heike, van de Warrenburg Bart, Timmann Dagmar, Dixit Abhijit, Searle Claire, Thakur Nivedita, Kruer Michael C., Sharma Suvasini, Vanderver Adeline, Tonduti Davide, van der Knaap Marjo, Bertini Enrico, Goizet Cyril, Fribourg Sebastien, Wolf Nicole I, Bernard Genevieve: Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants, NEUROLOGY: GENETICS 5: (6) e369
type of document:
number of independent citations: 16
language: English
URL |
2017
from data base, 2024. II. 22. |
Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM: Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly, BRAIN 140: (10) pp. 2610-2622.
type of document:
number of independent citations: 63
language: English
URL |
2015
from data base, 2024. II. 22. |
Alby C, Piquand K, Huber C, Megarbane A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessieres B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabo H, Failler M, Garfa-Traore M, Bole C, Nitschke P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attie-Bitach T, Thomas S: Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome, AMERICAN JOURNAL OF HUMAN GENETICS 97: (2) pp. 311-318.
type of document: Journal paper/Article
number of independent citations: 59
language: English
URL |
2015
from data base, 2024. II. 22. |
Kodani Andrew, Yu Timothy W, Johnson Jeffrey R, Jayaraman Divya, Johnson Tasha L, Al-Gazali Lihadh, Sztriha Lāszló, Partlow Jennifer N, Kim Hanjun, Krup Alexis L, Dammermann Alexander, Krogan Nevan J, Walsh Christopher A, Reiter Jeremy F: Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication, ELIFE 4: p. e07519.
type of document: Journal paper/Article
number of independent citations: 82
language: English
URL |
2015
from data base, 2024. II. 22. |
Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavalleee-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, de Warrenburg BPV, Seeger J, Zimmermann A, Mate A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR, Coulombe B, Bernard G: Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III, NATURE COMMUNICATIONS 6: 7623
type of document: Journal paper/Article
number of independent citations: 72
language: English
URL |
1999
from data base, 2024. II. 22. |
Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur-E-Kamal M, Reis A, Bayoumi R: Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity, AMERICAN JOURNAL OF HUMAN GENETICS 65: (6) pp. 1666-1671.
type of document: Journal paper/Article
number of independent citations: 97
language: English
URL |
| | Number of independent citations to these publications: | 413 |
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