Veronika Krulišová

Complex morphological and molecular genetic examination of amelogenesis imperfecta: a case presentation of two Czech siblings with a non-syndrome form of the disease.

M. Macek, T. Dostálová, N. Ptáková, 2014, Neuro endocrinology letters.

Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system

Attila Horvath, M. Macek, K. Koczok, 2018, BMC Genomics.

Cost-of-illness analysis and regression modeling in cystic fibrosis: a retrospective prevalence-based study

J. Klimeš, M. Macek, M. Turnovec, 2015, The European Journal of Health Economics.

Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA

M. Macek, Miroslava Balaščáková, T. Piskáčková, 2012, European Journal of Pediatrics.

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.

M. Macek, M. Turnovec, Miroslava Balaščáková, 2013, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.

O. Sommerburg, M. Macek, J. Hammermann, 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe

I. N. Filippova, S. Ripatti, A. Metspalu, 2013, PloS one.

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

X. Estivill, S. Antonarakis, T. Meitinger, 2012, European Journal of Human Genetics.

Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations.

M. Muckenthaler, M. Gahr, O. Sommerburg, 2014, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.

M. Macek, V. Moslerová, M. Havlovicová, 2018, European journal of medical genetics.

Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system

M. Macek, K. Koczok, L. Madar, 2018, BMC Genomics.