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Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
Pfeifer M, Rehder H, Gerykova Bujalkova M, Bartsch C, Fritz B, Knopp C, Beckers B, Dohle F, Meyer-Wittkopf M, Axt-Fliedner R, Beribisky AV, Hofer M, Laccone F, Schoner K. Pfeifer M, et al. Among authors: gerykova bujalkova m. Orphanet J Rare Dis. 2024 Mar 12;19(1):114. doi: 10.1186/s13023-024-03106-z. Orphanet J Rare Dis. 2024. PMID: 38475835 Free PMC article.
Large neutral amino acid levels tune perinatal neuronal excitability and survival.
Knaus LS, Basilico B, Malzl D, Gerykova Bujalkova M, Smogavec M, Schwarz LA, Gorkiewicz S, Amberg N, Pauler FM, Knittl-Frank C, Tassinari M, Maulide N, Rülicke T, Menche J, Hippenmeyer S, Novarino G. Knaus LS, et al. Among authors: gerykova bujalkova m. Cell. 2023 Apr 27;186(9):1950-1967.e25. doi: 10.1016/j.cell.2023.02.037. Epub 2023 Mar 29. Cell. 2023. PMID: 36996814 Free article.
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Smogavec M, Gerykova Bujalkova M, Lehner R, Neesen J, Behunova J, Yerlikaya-Schatten G, Reischer T, Altmann R, Weis D, Duba HC, Laccone F. Smogavec M, et al. Among authors: gerykova bujalkova m. Eur J Hum Genet. 2022 Apr;30(4):428-438. doi: 10.1038/s41431-021-01012-7. Epub 2022 Jan 1. Eur J Hum Genet. 2022. PMID: 34974531 Free PMC article.
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature.
Behunova J, Gerykova Bujalkova M, Gras G, Taylor T, Ihm U, Kircher S, Rehder H, Laccone F. Behunova J, et al. Among authors: gerykova bujalkova m. Mol Syndromol. 2019 Jan;9(6):287-294. doi: 10.1159/000494451. Epub 2018 Nov 13. Mol Syndromol. 2019. PMID: 30800044 Free PMC article.
Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance.
Minarik G, Repiska G, Hyblova M, Nagyova E, Soltys K, Budis J, Duris F, Sysak R, Gerykova Bujalkova M, Vlkova-Izrael B, Biro O, Nagy B, Szemes T. Minarik G, et al. Among authors: gerykova bujalkova m. PLoS One. 2015 Dec 15;10(12):e0144811. doi: 10.1371/journal.pone.0144811. eCollection 2015. PLoS One. 2015. PMID: 26669558 Free PMC article.
Molecular genetic methods in the diagnosis of myelodysplastic syndromes. A review.
Lukackova R, Gerykova Bujalkova M, Majerova L, Mladosievicova B. Lukackova R, et al. Among authors: gerykova bujalkova m. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014 Sep;158(3):339-45. doi: 10.5507/bp.2013.084. Epub 2013 Nov 20. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014. PMID: 24263214 Free article. Review.