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T. Piskáčková · SciRah

Researcher profile · Semantic Scholar

T. Piskáčková

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T. Piskáčková — researcher profile on SciRah

h-index: 9
Works: 20
Citations: 1,028

Most-cited papers

Genetic Structure of Europeans: A View from the North–East
M. Nelis, T. Esko, R. Mägi, F. Zimprich +41 more
2009PLoS ONE450 citations Open access
Semantic Scholar
A common variant on chromosome 11q13 is associated with atopic dermatitis
J. Esparza-Gordillo, S. Weidinger, R. Fölster-Holst, A. Bauerfeind +23 more
2009Nature Genetics312 citations
Semantic Scholar
Association screening in the Epidermal Differentiation Complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema.
I. Marenholz, Vladimir A. Gimenez Rivera, J. Esparza-Gordillo, A. Bauerfeind +6 more
2011Journal of Investigative Dermatology84 citations Open access
Semantic Scholar
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results
R. Dorfman, Weili Li, Lei Sun, Fan Lin +21 more
2009Human Genetics59 citations Open access
Semantic Scholar
Detection of two Alu insertions in the CFTR gene.
Jian-Min Chen, E. Masson, M. Macek, O. Raguénès +6 more
2008Journal of Cystic Fibrosis36 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
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
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
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
Correction: Genetic Structure of Europeans: A View from the North–East
M. Nelis, T. Esko, R. Mägi, F. Zimprich +41 more
2010PLoS ONE2 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
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
Genome-wide association study reveals new risk variants for atopic dermatitis on chromosome 11 and in the epidermal differentiation complex (EDC) on chromosome 1q21
J. Esparza-Gordillo, S. Weidinger, R. Fölster-Holst, A. Bauerfeind +23 more
20090 citations
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

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