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Miroslava Balaščáková · SciRah

Researcher profile · Semantic Scholar

Miroslava Balaščáková

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Miroslava Balaščáková — researcher profile on SciRah

h-index: 10
Works: 35
Citations: 836

Most-cited papers

Correlation between genetic and geographic structure in Europe.
O. Lao, T. Lu, M. Nothnagel, O. Junge +29 more
2008Current Biology500 citations Open access
Semantic Scholar
Mutations in the amiloride‐sensitive epithelial sodium channel in patients with cystic fibrosis‐like disease
A. Azad, R. Rauh, F. Vermeulen, M. Jaspers +25 more
2009Human Mutation89 citations Open access
Semantic Scholar
Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations.
O. Sommerburg, Veronika Krulišová, J. Hammermann, M. Lindner +13 more
2014Journal of Cystic Fibrosis40 citations Open access
Semantic Scholar
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome
A. de Jesus, Gui-Bin Chen, Dan Yang, Tomáš Brdička +50 more
2022Nature Communications30 citations Open access
Semantic Scholar
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
Veronika Krulišová, Miroslava Balaščáková, V. Skalická, T. Piskáčková +11 more
2012European Journal of Pediatrics30 citations
Semantic Scholar
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia
J. Zieg, A. Křepelová, Alireza Baradaran-Heravi, E. Levtchenko +10 more
2011Pediatric Rheumatology Online Journal29 citations Open access
Semantic Scholar
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
P. Křenková, T. Piskáčková, A. Holubová, Miroslava Balaščáková +16 more
2013Journal of Cystic Fibrosis25 citations Open access
Semantic Scholar
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes
J. Čopíková, J. Paděrová, Věra Románková, M. Havlovicová +15 more
2020Annals of Human Genetics19 citations
Semantic Scholar
A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.
S. Weidler, Konrad H. Stopsack, J. Hammermann, O. Sommerburg +11 more
2016Journal of Cystic Fibrosis18 citations Open access
Semantic Scholar
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic
J. Zieg, Martin Bezdíčka, Michaela Němčíková, Miroslava Balaščáková +5 more
2023Italian Journal of Pediatrics10 citations Open access
Semantic Scholar
Genetic Testing for Malformations of Cortical Development
B. Straka, Barbora Heřmanovská, L. Krsková, J. Zamecnik +10 more
2022Neurology: Genetics10 citations Open access
Semantic Scholar
Pilot newborn screening project for cystic fibrosis in the Czech Republic: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease.
Miroslava Balaščáková, A. Holubová, V. Skalická, D. Zemková +10 more
2009Journal of Cystic Fibrosis10 citations Open access
Semantic Scholar
An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population
T. Lu, O. Lao, M. Nothnagel, O. Junge +30 more
2009European Journal of Human Genetics10 citations Open access
Semantic Scholar
COL4A1 mutation‐related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria
B. Straka, M. Vlčková, Z. Liba, Barbora Heřmanovská +7 more
2022Epilepsia Open5 citations Open access
Semantic Scholar
Report Correlation between Genetic and Geographic Structure in Europe
O. Lao, T. Lu, M. Nothnagel, O. Junge +25 more
20084 citations
Semantic Scholar
Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review
J. Zieg, T. Tavacova, Miroslava Balaščáková, P. Peldová +2 more
2023Frontiers in Pediatrics3 citations Open access
Semantic Scholar
Genetic and Structural Variations in Czech Patients With Congenital Myopathies
J. Zídková, B. Lauerova, Lívie Mensová, T. Kramářová +23 more
2025Clinical Genetics2 citations Open access
Semantic Scholar
Duplication of the SOX3 gene in an SRY-negative boy with a 46,XX karyotype: a case report and a review of the literature
Júlia Martinková, Hana Řezáčová, A. Šantavá, Jana Drabova +5 more
2026Frontiers in Genetics0 citations Open access
Semantic Scholar
Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene: a case report
Júlia Martinková, Michaela Mihulová, Miroslava Balaščáková, J. Trachta +1 more
2026Frontiers in Pediatrics0 citations Open access
Semantic Scholar
A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome
Júlia Martinková, E. Vyhnálková, M. Schwarz, Miroslava Balaščáková +5 more
2026Molecular Genetics & Genomic Medicine0 citations Open access
Semantic Scholar
A novel breakpoint deletion within a CAG repeat causes complete androgen insensitivity syndrome: Report of its segregation in a large Czech family.
Júlia Martinková, Andrea Gřegořová, M. Wayhelova, J. Šoukalová +2 more
2026Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia0 citations Open access
Semantic Scholar
Swallowing disorder as the first symptom of desminopathy
T. Malkova, Miroslava Balaščáková, J. Zídková, J. Haberlova +4 more
2025Gastroenterology & hepatology0 citations
Semantic Scholar
NPHP3-Related Disease: A Possible Risk Factor for Developing Encapsulating Peritoneal Sclerosis
Michaela Šibíková, F. Fencl, Jan David, K. Vondrák +5 more
2023Klinische Pädiatrie0 citations
Semantic Scholar
17 Cystic fibrosis newborn screening (CF NBS): 4 year experience of the Prague Centre with the IRT/DNA/IRT protocol
A. Holubová, Veronika Krulišová, V. Skalická, F. Votava +6 more
20140 citations Open access
Semantic Scholar
25 Cystic fibrosis (CF) prevalence derived from CF newborn screening (CFNBS) in the Czech Republic: comparison of previous epidemiological and current CFNBS-based disease prevalence data
Veronika Krulišová, A. Holubová, T. Piskáčková, Miroslava Balaščáková +6 more
20140 citations Open access
Semantic Scholar
32 Uptake of genetic counseling and analysis of DNA testing outcomes following newborn screening for cystic fibrosis: Experience of the Prague centre
A. Holubová, Veronika Krulišová, T. Piskáčková, Miroslava Balaščáková +3 more
20130 citations Open access
Semantic Scholar
19* Summary of the simultaneous IRT/PAP/ST+DNA and IRT/DNA/IRT newborn screening protocols in the Czech Republic
Veronika Krulišová, Miroslava Balaščáková, V. Skalická, T. Piskáčková +9 more
20110 citations Open access
Semantic Scholar
Spectrum of CFTR mutations in the Czech Republic
P. Křenková, T. Piskáčková, Miroslava Balaščáková, A. Holubová +7 more
20100 citations Open access
Semantic Scholar
Experience with harmonizing the neonatal CF screening (NSCF) management via model IRT/PAP/DNA in the Czech Republic
Miroslava Balaščáková, V. Skalická, P. Hodková, T. Piskáčková +6 more
20100 citations Open access
Semantic Scholar
365 Cystic fibrosis newborn screening in the Czech Republic: overview of a pilot study
Miroslava Balaščáková, A. Holubová, V. Skalická, P. Kračmar +6 more
20070 citations Open access
Semantic Scholar
364 Newborn screening in the Czech Republic: an effective tool for early detection of CF
D. Zemkova, V. Skalická, Miroslava Balaščáková, V. Vávrová +3 more
20070 citations Open access
Semantic Scholar
[Notes to the article Nekl R., Mockóva, A., Bierhanzlová, J., Kutilová J. "Meconium Ileus as a first symptom of cystic fibrosis in a newborn"].
P. Pohunek, M. Macek, Miroslava Balaščáková, L. Pelikán +6 more
2007Casopis lekaru ceskych0 citations
Semantic Scholar
356 Newborn screening (NBS) facilitates diagnosis of previously unrecognised CF in older siblings
V. Skalická, T. Fischerová, K. Bohmova, Miroslava Balaščáková +4 more
20070 citations Open access
Semantic Scholar
470 Newborn screening for CF in the Czech Republic: results from a pilot study
A. Holubová, F. Votava, V. Skalická, Miroslava Balaščáková +7 more
20060 citations Open access
Semantic Scholar
Report and Geographic Structure in Europe
O. Lao, T. Lu, M. Nothnagel, O. Junge +29 more
0 citations
Semantic Scholar

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