Milan Maçek

28.7k total citations · 1 hit paper
169 papers, 4.4k citations indexed

About

Milan Maçek is a scholar working on Pulmonary and Respiratory Medicine, Genetics and Molecular Biology. According to data from OpenAlex, Milan Maçek has authored 169 papers receiving a total of 4.4k indexed citations (citations by other indexed papers that have themselves been cited), including 63 papers in Pulmonary and Respiratory Medicine, 38 papers in Genetics and 30 papers in Molecular Biology. Recurrent topics in Milan Maçek's work include Cystic Fibrosis Research Advances (58 papers), Neonatal Respiratory Health Research (28 papers) and Tracheal and airway disorders (21 papers). Milan Maçek is often cited by papers focused on Cystic Fibrosis Research Advances (58 papers), Neonatal Respiratory Health Research (28 papers) and Tracheal and airway disorders (21 papers). Milan Maçek collaborates with scholars based in Czechia, United States and Germany. Milan Maçek's co-authors include Philip M. Farrell, Jason P. Fine, Joseph L. Bobadilla, Ada Hamosh, Garry R. Cutting, Alice Krebsová, Beryl J. Rosenstein, Anil Mehta, Gita Mehta and Iain McIntosh and has published in prestigious journals such as Nature, Proceedings of the National Academy of Sciences and The Lancet.

In The Last Decade

Milan Maçek

160 papers receiving 4.3k citations

Hit Papers

Cystic fibrosis: A worldwide analysis ofCFTR mutations?co... 2002 2026 2010 2018 2002 200 400 600
What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

  1. Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening
    2002 743 citations Milan Maçek, Philip M. Farrell et al. Human Mutation profile →

Peers

Milan Maçek
Klaus Müller Denmark
Isaac Yaniv Israel
John P. Johnson United States
Gregory A. Hawkins United States
Naoko Kinukawa Japan
Sherif E. Gabriel United States
D. J. H. Brock United Kingdom
Elżbieta Kaczmarek Poland
David M. Rodman United States
Thomas J. Hoffmann United States
Klaus Müller Denmark
Milan Maçek
Citations per year, relative to Milan Maçek Milan Maçek (= 1×) peers Klaus Müller

Countries citing papers authored by Milan Maçek

Since Specialization
Citations

This map shows the geographic impact of Milan Maçek's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Milan Maçek with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Milan Maçek more than expected).

Fields of papers citing papers by Milan Maçek

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Milan Maçek. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Milan Maçek. The network helps show where Milan Maçek may publish in the future.

Co-authorship network of co-authors of Milan Maçek

This figure shows the co-authorship network connecting the top 25 collaborators of Milan Maçek. A scholar is included among the top collaborators of Milan Maçek based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Milan Maçek. Milan Maçek is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Wert, Guido de, Carla van El, Angus Clarke, et al.. (2025). Cascade counselling and testing. Recommendations of the European Society of Human Genetics. European Journal of Human Genetics. 34(2). 171–184.
2.
Schwarz, Martin, Markéta Havlovičová, Marek Turnovec, et al.. (2024). Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder. Scientific Reports. 14(1). 9873–9873. 1 indexed citations
3.
Rowin, Ethan J., Raymond H. Chan, Michael T. Chin, et al.. (2024). Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy. Journal of the American Heart Association. 13(10). e033565–e033565. 10 indexed citations
4.
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Krebsová, Alice, Ilse Luyckx, Steven Laga, et al.. (2022). Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants. Human Mutation. 43(12). 1824–1828. 5 indexed citations
7.
Kašný, Martin, Petr Hubáček, Vladimíra Koudeláková, et al.. (2021). Distribution of SARS-CoV-2 Lineages in the Czech Republic, Analysis of Data from the First Year of the Pandemic. Microorganisms. 9(8). 1671–1671. 6 indexed citations
8.
Chmel, Roman, Zlatko Pastor, Pétra Paulasova, et al.. (2020). Assisted Reproductive Techniques and Pregnancy Results in Women with Mayer-Rokitansky-Küster-Hauser Syndrome Undergoing Uterus Transplantation: the Czech Experience. Journal of Pediatric and Adolescent Gynecology. 33(4). 410–414. 19 indexed citations
9.
Petrova, Guergana, et al.. (2019). Identification of 99% of CFTR gene mutations in Bulgarian‐, Bulgarian Turk‐, and Roma cystic fibrosis patients. Molecular Genetics & Genomic Medicine. 7(8). e696–e696. 4 indexed citations
10.
Tomašov, Pavol, et al.. (2018). The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy. Archives of Medical Science. 15(3). 641–649. 24 indexed citations
11.
Kristoffersson, Ulf & Milan Maçek. (2017). From Mendel to Medical Genetics. European Journal of Human Genetics. 25(S2). S53–S59. 4 indexed citations
12.
Novotná, Božena, et al.. (2016). Naše první zkušenosti s využitím kometového testu při hodnocení integrity DNA ve spermiích. 20(4). 317–325.
13.
Chen, Jian‐Min, Nadia Chuzhanova, Caroline Bénech, et al.. (2010). Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. Human Mutation. 31(4). 421–428. 23 indexed citations
14.
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Maçek, Milan, et al.. (2009). Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of Selected Exons of the CFTR Gene. Folia Biologica. 55(6). 238–242. 9 indexed citations
16.
Chen, Jian‐Min, Emmanuelle Masson, Milan Maçek, et al.. (2007). Detection of two Alu insertions in the CFTR gene. Journal of Cystic Fibrosis. 7(1). 37–43. 27 indexed citations
17.
Vankeerberghen, Anne, Olga Scudiero, K. De Boeck, et al.. (2005). Distribution of human β-defensin polymorphisms in various control and cystic fibrosis populations. Genomics. 85(5). 574–581. 30 indexed citations
18.
Maçek, Milan, Bernard Mercier, Patrice W. Miller, et al.. (1997). Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in theCFTR gene. Human Mutation. 9(2). 136–147. 46 indexed citations
19.
Maçek, Milan, et al.. (1991). The direct early diagnosis of cystic fibrosis by the detection of the deltaF508 CFTR gene mutation in a prematurely delivered boy. Clinical Genetics. 39(3). 219–222. 6 indexed citations
20.
Maçek, Milan & Matilda Benyésh-Melnick. (1972). Chromosomal analysis of lymphoblastoid cell lines from patients with leukaemia, infectious mononucleosis, or Burkitt lymphoma.. PubMed. 19(1). 51–6. 1 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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