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A. Holubová · SciRah

Researcher profile · Semantic Scholar

A. Holubová

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A. Holubová — researcher profile on SciRah

h-index: 10
Works: 30
Citations: 306

Most-cited papers

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
C. Férec, T. Casals, N. Chuzhanova, M. Macek +20 more
2006European Journal of Human Genetics97 citations
Semantic Scholar
Natural history of KBG syndrome in a large European cohort
L. Loberti, L. Bruno, Stefania Granata, Gabriella Doddato +55 more
2022Human Molecular Genetics30 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
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Jan David, P. Chrastina, K. Pešková, V. Kožich +12 more
2019Central European Journal of Public Health28 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
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
J. Paděrová, Jana Drabova, A. Holubová, M. Vlčková +10 more
2018European Journal of Medical Genetics24 citations
Semantic Scholar
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring
J. Paděrová, A. Holubová, Martina Simandlová, A. Puchmajerová +12 more
2016Clinical Genetics22 citations
Semantic Scholar
Highly preferential association of NonF508del CF mutations with the M470 allele.
Bianca Maria Ciminelli, A. Bonizzato, C. Bombieri, F. Pompei +10 more
2007Journal of Cystic Fibrosis19 citations Open access
Semantic Scholar
Organoids as a Personalized Medicine Tool for Ultra-Rare Mutations in Cystic Fibrosis: the Case of S955P and 1717–2A>G
Iris al Silva, T. Doušová, S. Ramalho, R. Centeio +10 more
2020Biochimica et Biophysica Acta - Molecular Basis of Disease15 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
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates
Jan David, P. Chrastina, H. Vinohradská, Eva Al Taji +4 more
2018European Journal of Pediatrics7 citations
Semantic Scholar
Distinct Phenotypes of Primary Ciliary Dyskinesia in Monozygotic Twins with Defective HYDIN Gene: a Case Report
Dominika Pánska, Dominik Pinkas, Petra Dvořáková, Andrea Vajsova +4 more
2026Current Genetic Medicine Reports0 citations Open access
Semantic Scholar
P035 Generally positive clinical outcomes of CFSPID cases identified between 2009 and 2023 within the nationwide neonatal screening programme in the Czech Republic
J. Bartošová, A. Holubová, D. Zemková, E. Furstova +5 more
2025Journal of Cystic Fibrosis0 citations
Semantic Scholar
Laboratory newborn screening in the Czech Republic: results in 2010-2022 period
Felix Votava, Viktor Kožich, K. Pešková, P. Chrastina +5 more
2024Česko-slovenská pediatrie0 citations Open access
Semantic Scholar
P029 Complex CFTR allele F508del-L467F in the era of elexacaftor/tezacaftor/ivacaftor (ETI) therapy: a retrospective analysis in three Czech cases who partially respond to ETI
M. Kreslová, M. Libik, A. Holubová, R. Gaillyová +6 more
2024Journal of Cystic Fibrosis0 citations Open access
Semantic Scholar
P024 Compound heterozygotes bearing the CFTRdup22 in trans with another cystic fibrosis-causing variant have a generally milder course of cystic fibrosis: analysis of 6 Czech cystic fibrosis cases
A. Holubová, M. Libik, L. Dvorakova, P. Peldová +7 more
2023Journal of Cystic Fibrosis0 citations Open access
Semantic Scholar
P046 Cystic fibrosis newborn screening (CF NBS) in the Czech Republic: analysis of the false negative results
A. Holubová, R. Gaillyová, V. Skalická, H. Vinohradská +9 more
2019Journal of Cystic Fibrosis0 citations Open access
Semantic Scholar
WS10.6 Seven years of nationwide cystic fibrosis newborn screening in the Czech Republic: analysis of the IRT/DNA/IRT scheme outcomes
A. Holubová, R. Gaillyová, V. Skalická, H. Vinohradská +10 more
2018Journal of Cystic Fibrosis0 citations Open access
Semantic Scholar
9 Milder pancreatic and pulmonary phenotype associated with nonsense mutations located within the legacy exon 24 of the CFTR gene
A. Holubová, M. Libile, L. Dvořáková, V. Skalická +7 more
20160 citations Open access
Semantic Scholar
WS17.4 Unexpected findings in the broadly used Elucigene CF-EU2 CFTR genotyping assay
A. Holubová, M. Libik, L. Dvoľáková, J. Paděrová +2 more
20150 citations Open access
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
21 Diagnostic and counselling dilemmas in newborn screening for cystic fibrosis related to the detection of atypical mutations
V. Kruliová, A. Holubová, V. Skalická, M. BalaCaková +7 more
20120 citations Open access
Semantic Scholar
Newborn screening for cystic fibrosis leads to diagnosis in older siblings of diagnosed newborns
T. Kučerová, V. Skalická, J. Bartošová, A. Holubová +3 more
20120 citations
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
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
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
471 Increased age at diagnosis justifies CF neonatal screening
Dana Zemkova, V. Skalická, T. Kučerová, J. Bartošová +4 more
20060 citations Open access
Semantic Scholar

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