Milan Macek (M Macek)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 17

Top Topics

Pseudomonas Aeruginosa

Body Mass Index

Cystic Fibrosis

Top Venues

Journal of the American Heart Association

European journal of human genetics : EJHG

Molecular genetics and genomics : MGG

Molecular biology reports

This page only lists publications with an associated author ORCID identifier.

Publications

Osama A Karim Majed, Fatema Osama Majed, Nabeel Jasim Almoamen, Husain Baqer Alsatrawi, Salma Dawood Shehabi, Jana Hrbková, Malgorzata Libik, Milan Macek
Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain. Molecular genetics and genomics : MGG 299 (1) (2024)
Osama A Karim Majed, Fatema Osama Majed, Nabeel Jasim Almoamen, Husain Baqer Alsatrawi, Salma Dawood Shehabi, Jana Hrbková, Malgorzata Libik, Milan Macek
Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain. Molecular genetics and genomics : MGG 299 (1) (2024)
Jiri Bonaventura, Ethan J Rowin, Raymond H Chan, Michael Thomas Chin, Veronika Puchnerova, Eva Polaková, Milan Macek, Pavel Votýpka, Rebecca A Batorsky, Gayani Perera, Benjamin Koethe, Josef Veselka, Barry J Maron, Martin S Maron
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy. Journal of the American Heart Association 13 (10) (2024)
Jiri Bonaventura, Ethan J Rowin, Raymond H Chan, Michael Thomas Chin, Veronika Puchnerova, Eva Polaková, Milan Macek, Pavel Votýpka, Rebecca A Batorsky, Gayani Perera, Benjamin Koethe, Josef Veselka, Barry J Maron, Martin S Maron
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy. Journal of the American Heart Association 13 (10) (2024)
Osama A Karim Majed, Fatema Osama Majed, Nabeel Jasim Almoamen, Husain Baqer Alsatrawi, Salma Dawood Shehabi, Jana Hrbková, Malgorzata Libik, Milan Macek
Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain. Molecular genetics and genomics : MGG 299 (1) (2024)
Martin Schwarz, Matej Gazdarica, Eva Froňková, Michael Svatoň, Jiri Bronsky, Markéta Havlovicová, Anna Křepelová, Milan Macek
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn's disease. Molecular biology reports 51 (1) (2024)
Jiri Bonaventura, Ethan J Rowin, Raymond H Chan, Michael Thomas Chin, Veronika Puchnerova, Eva Polaková, Milan Macek, Pavel Votýpka, Rebecca A Batorsky, Gayani Perera, Benjamin Koethe, Josef Veselka, Barry J Maron, Martin S Maron
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy. Journal of the American Heart Association 13 (10) (2024)
Martin Schwarz, Matej Gazdarica, Eva Froňková, Michael Svatoň, Jiri Bronsky, Markéta Havlovicová, Anna Křepelová, Milan Macek
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn's disease. Molecular biology reports 51 (1) (2024)
Martin Schwarz, Jan Geryk, Markéta Havlovicová, Michaela Zelinová, Marek Turnovec, Lukáš Ryba, Júlia Martinková, Milan Macek, Richard Palmer, Karolina Kočandrlová, Jana Velemínská, Veronika Moslerová
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) (2024)
Martin Schwarz, Jan Geryk, Markéta Havlovicová, Michaela Zelinová, Marek Turnovec, Lukáš Ryba, Júlia Martinková, Milan Macek, Richard Palmer, Karolina Kočandrlová, Jana Velemínská, Veronika Moslerová
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) (2024)
Jiri Bonaventura, Ethan J Rowin, Raymond H Chan, Michael Thomas Chin, Veronika Puchnerova, Eva Polaková, Milan Macek, Pavel Votýpka, Rebecca A Batorsky, Gayani Perera, Benjamin Koethe, Josef Veselka, Barry J Maron, Martin S Maron
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy. Journal of the American Heart Association (2024)
Jiri Bonaventura, Ethan J Rowin, Raymond H Chan, Michael Thomas Chin, Veronika Puchnerova, Eva Polaková, Milan Macek, Pavel Votýpka, Rebecca A Batorsky, Gayani Perera, Benjamin Koethe, Josef Veselka, Barry J Maron, Martin S Maron
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy. Journal of the American Heart Association 13 (10) (2024)
Erika Souche, Sergi Beltran, Erwin Brosens, John W Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle E van Gijn, Jill Clayton-Smith, Matthis Synofzik, Nicole de Leeuw, Zandra C Deans, Yasemin Dincer, Sebastian H Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graessner, Marc Sturm, Helen Firth, Alessandra Ferlini, Rima Nabbout, Elfride De Baere, Thomas Liehr, Milan Macek, Gert Matthijs, Hans Scheffer, Peter Bauer, Helger G Yntema, Janneke M Weiss
Recommendations for whole genome sequencing in diagnostics for rare diseases. European journal of human genetics : EJHG 30 (9) (2022)
Ilse Van Gucht, Alice Krebsova, Birgitte Rode Diness, Steven Laga, Dave Adlam, Marlies Kempers, Nilesh J Samani, Tom R Webb, Ania A Baranowska, Lotte Van Den Heuvel, Melanie Perik, Ilse Luyckx, Nils Peeters, Pavel Votypka, Milan Macek, Josephina A N Meester, Lut Van Laer, Aline Verstraeten, Bart L Loeys
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings. International journal of molecular sciences 22 (13) (2021)
Guido M W R De Wert, Wybo J Dondorp, Angus John Clarke, Elisabeth M C Dequeker, Christophe Cordier, Zandra Deans, Carla G van El, Florence Fellmann, Ros Hastings, Sabine Hentze, Heidi Howard, Milan Macek, Alvaro Mendes, Christine Patch, Emmanuelle Rial-Sebbag, Vigdis Stefansdottir, Martina Cornelia Cornel, Francesca Forzano, null null
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. European journal of human genetics : EJHG 29 (3) (2020)
Philip Farrell, Claude Férec, Milan Macek, Thomas Frischer, Sabine Renner, Katharina Riss, David Barton, Teresa Repetto, Maria Tzetis, Karine Giteau, Morten Duno, Melissa Rogers, Hara Levy, Mourad Sahbatou, Yann Fichou, Cédric Le Maréchal, French Exome Consortium
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis. European journal of human genetics : EJHG 26 (12) (2018)
J C Harper, K Aittomäki, P Borry, Martina Cornelia Cornel, G de Wert, Wybo J Dondorp, J Geraedts, L Gianaroli, K Ketterson, I Liebaers, K Lundin, H Mertes, M Morris, G Pennings, K Sermon, C Spits, S Soini, A P A van Montfoort, A Veiga, J R Vermeesch, S Viville, Milan Macek, null null
Recent developments in genetics and medically assisted reproduction: from research to clinical applications. European journal of human genetics : EJHG 26 (1) (2017)