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Page 1
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
van der Sluijs PJ, Gösgens M, Dingemans AJM, Striano P, Riva A, Mignot C, Faudet A, Vasileiou G, Walther M, Schrier Vergano SA, Alders M, Alkuraya FS, Alorainy I, Alsaif HS, Anderlid B, Bache I, van Beek I, Blanluet M, van Bon BW, Brunet T, Brunner H, Carriero ML, Charles P, Chatron N, Coccia E, Dubourg C, Earl RK, Eichler EE, Faivre L, Foulds N, Graziano C, Guerrot AM, Hashem MO, Heide S, Heron D, Hickey SE, Hopman SMJ, Kattentidt-Mouravieva A, Kerkhof J, Klein Wassink-Ruiter JS, Kurtz-Nelson EC, Kušíková K, Kvarnung M, Lecoquierre F, Leszinski GS, Loberti L, Magoulas PL, Mari F, Maystadt I, Merla G, Milunsky JM, Moortgat S, Nicolas G, Leary MO', Odent S, Ozmore JR, Parbhoo K, Pfundt R, Piccione M, Pinto AM, Popp B, Putoux A, Rehm HL, Reis A, Renieri A, Rosenfeld JA, Rossi M, Salzano E, Saugier-Veber P, Seri M, Severi G, Sonmez FM, Strobl-Wildemann G, Stuurman KE, Uctepe E, Van Esch H, Vitetta G, de Vries BBA, Wahl D, Wang T, Zacher P, Heitink KR, Ropers FG, Steenbeek D, Rybak T, Santen GWE. van der Sluijs PJ, et al. Among authors: kusikova k. Genet Med Open. 2024 Jul 23;2:101873. doi: 10.1016/j.gimo.2024.101873. eCollection 2024. Genet Med Open. 2024. PMID: 39669611 Free PMC article.
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.
Kušíková K, Šoltýsová A, Ficek A, Feichtinger RG, Mayr JA, Škopková M, Gašperíková D, Kolníková M, Ornig K, Kalev O, Weis S, Weis D. Kušíková K, et al. Genes (Basel). 2023 Dec 3;14(12):2174. doi: 10.3390/genes14122174. Genes (Basel). 2023. PMID: 38136996 Free PMC article.
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
Weis D, Lin LL, Wang HH, Li ZJ, Kusikova K, Ciznar P, Wolf HM, Leiss-Piller A, Wang Z, Wei X, Weis S, Skalicka K, Hrckova G, Danisovic L, Soltysova A, Yang TT, Feichtinger RG, Mayr JA, Qi L. Weis D, et al. Among authors: kusikova k. J Clin Invest. 2024 Jan 16;134(2):e170882. doi: 10.1172/JCI170882. J Clin Invest. 2024. PMID: 37943617 Free PMC article.
Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.
Kušíková K, Feichtinger RG, Csillag B, Kalev OK, Weis S, Duba HC, Mayr JA, Weis D. Kušíková K, et al. Front Pediatr. 2021 Apr 16;9:660076. doi: 10.3389/fped.2021.660076. eCollection 2021. Front Pediatr. 2021. PMID: 33937156 Free PMC article.