I. - Basic information

I.1 - Surname

Konečný

I.2 - Name

Michal

I.3 - Degrees

RNDr., PhD.

I.4 - Year of birth

1979

I.5 - Name of the workplace

Department of Genetics, Faculty of Natural Sciences, Comenius University, Bratislava

I.6 - Address of the workplace

Mlynska dolina, Ilkovicova 6, 842 15 Bratislava 4

I.7 - Position

special assistant

I.8 - E-mail address

konecny13@uniba.sk

I.11 - ORCID iD

0000-0002-8523-3633

II. - Higher education and further qualification growth

II.1 - First degree of higher education

II.a - Name of the university or institution

Faculty of Natural Sciences, Comenius University, Bratislava

II.b - Year

2011

II.c - Study field and programme

Biology

II.2 - Second degree of higher education

II.a - Name of the university or institution

Department of Genetics, Faculty of Natural Sciences, Comenius University, Bratislava

II.b - Year

2003

II.c - Study field and programme

Biology, Genetics

II.3 - Third degree of higher education

II.a - Name of the university or institution

Department of Genetics, Faculty of Natural Sciences, Comenius University, Bratislava

II.b - Year

2009

II.c - Study field and programme

Human genetics

II.4 - Associate professor

II.5 - Professor

II.6 - Doctor of Science (DrSc.)

III. - Current and previous employment

III.a - Occupation-position	III.b - Institution	III.c - Duration
Laboratory diagnostician in clinical genetics, Head of the department	Department of Clinical Genetics, St. Elizabeth Cancer Institute, Bratislava	2003-2016
Professional director	GHC Genetics, Prague	2017
Professional and executional director	Laboratory od Genomics Medicine, GHC GENETICS SK, Bratislava	2018-actual
Professional assistant	Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius	2019-actual
Professional assistant	Department of Genetics, Faculty of Natural Sciences, Comenius University, Bratislava	2022-actual

IV. - Development of pedagogical, professional, language, digital and other skills

IV.a - Activity description, course name, other	IV.b - Name of the institution	IV.c - Year
Specialization in the specialized field Laboratory and Diagnostic methods in Clinical Genetics	Slovak Medical University in Bratislava, Limbová 12, 833 03 Bratislava	2010
Specialization in Healthcare Management and Financing	Slovak Medical University in Bratislava, Limbová 12, 833 03 Bratislava	2017
Allocation of scientific qualification level IIa	Slovak Academy of Sciences, Bratislava	2021
Training course for next generation sequencing and applications	Roche, Mannheim, GER	2013
Educational training for sequencing applications on ABI 3130	Applied Biosystems, Manchester, UK	2006
Rare disease workshop	EUCERD, Roma, IT	2012
Rare Diseases Europe Roundtable	EUCERD, Brussels, BEL	2016
Chairman of the professional genetics society	Slovak Society of Medical Genetics	2018-2022, 2022-actually

V. - Overview of activities within the teaching career at the university

V.1 - Overview of the profile courses taught in the current academic year according to study programmes

V.1.a - Name of the profile course	V.1.b - Study programme	V.1.c - Degree	V.1.d - Field of study
Applied genetics	Biology	2.	Genetics
Medical Genomics	Biology	2.	Genetics

V.2 - Overview of the responsibility for the delivery, development and quality assurance of the study programme or its part at the university in the current academic year

V.3 - Overview of the responsibility for the development and quality of the field of habilitation procedure and inaugural procedure in the current academic year

V.4 - Overview of supervised final theses

V.4.1 - Number of currently supervised theses

V.4.a - Bachelor's (first degree)

V.4.b - Diploma (second degree)

V.4.c - Dissertation (third degree)

V.4.2 - Number of defended theses

V.4.a - Bachelor's (first degree)

V.4.b - Diploma (second degree)

V.4.c - Dissertation (third degree)

V.5 - Overview of other courses taught in the current academic year according to study programmes

VI. - Overview of the research/artistic/other outputs

VI.1 - Overview of the research/artistic/other outputs and the corresponding citations

VI.1.1 - Number of the research/artistic/other outputs

VI.1.a - Overall

VI.1.b - Over the last six years

VI.1.2 - Number of the research/artistic/other outputs registered in the Web of Science or Scopus databases

VI.1.a - Overall

VI.1.b - Over the last six years

VI.1.3 - Number of citations corresponding to the research/artistic/other outputs

VI.1.a - Overall

169

VI.1.b - Over the last six years

VI.1.4 - Number of citations registered in the Web of Science or Scopus databases

VI.1.a - Overall

169

VI.1.b - Over the last six years

VI.1.5 - Number of invited lectures at the international, national level

VI.2 - The most significant research/artistic/other outputs

Bľandová G, Murgašová M, Markocsy A, Baldovič M, Krasňanská G, Eliaš V, Repiská V, Konečný M. Pearson syndrome with atypical presentation of short stature and atypical limb proportions - First reported case in Slovakia. Mitochondrion. 2025 Nov;85:102079. doi: 10.1016/j.mito.2025.102079. Epub 2025 Aug 18. PMID: 40834967

Raffáč Š, Gabzdilová J, Krasňanská G, Konečný M. GATA2 deficiency in an adult with alveolar proteinosis,

infections, lymphadenopathy with granulomatosis, and immune deficiency: case report. Front Immunol.

2025 Nov 13;16:1608392. doi: 10.3389/fimmu.2025.1608392. eCollection 2025. PMID: 41322420

Repiská G, Konečný M, Krasňanská G, Celušáková H, Belica I, Rašková B, Kopčíková M, Keményová P,

Ostatníková D, Lakatošová S. Rare Variant Burden and Behavioral Phenotypes in Children with Autism in

Slovakia. Genes (Basel). 2025 Jul 28;16(8):893. doi: 10.3390/genes16080893. PMID: 40869941

Lakatošová S, Miklošovičová M, Konečný M, Wachsmannová L, Krasňanská G, Kopčíková M, Keményová

P, Tomka M, Lisyová J, Ostatníková D, Repiská G. 1 Mb Deletion in 10q26.3 and the Likely Pathogenic

Variant in the TRIO Gene: A Twin Case Study Challenging Their Role in Autism Diagnosis. Case Rep

Pediatr. 2025 Sep 15;2025:8859738. doi: 10.1155/crpe/8859738. eCollection 2025. PMID: 40988857

Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Comparison of the ABC and ACMG systems for variant classification. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. PMID: 38778080

Krasňanská, Gabriela, Bľandová, Gabriela, Baldovič, Marián, Andrejková, Mária, Konečný, Michal. Novel missense DNA variants in the IL2RG gene identified in Slovak X-SCID patients: a case report [elektronický dokument]. DOI 10.7759/cureus.75872 In: Cureus. Rockville Pike: National Center for Biotechnology Information, 2024, Roč. 16, č. 12, e75872, s. 1-8 [online]. ISSN (online) 2168-8184.

Bľandová, Gabriela, Janoštiaková, Nikola, Kodada, Dominik, Pastorek, Michal, Lipták, Róbert, Hodosy, Július, Šebeková, Katarína, Celec, Peter, Krasňanská, Gabriela, Eliáš, Vladimír, Wachsmannová, Lenka, Konečný, Michal, Repiská, Vanda, Baldovič, Marián. Mitochondrial DNA variability and Covid-19 in the Slovak population [elektronický dokument]. DOI 10.1016/j.mito.2023.101827. In: Mitochondrion. Oxon: Elsevier. Elsevier Science, 2024, Roč. 75, č. March, art. no. 101827, s. [1-9]

Konecny, M., Kosova, K., Tilandyova, P., ...Markus, J., Ciernikova, S. The results of multigene panel sequencing in Slovak HBOC families. Neoplasma, 2021, 68(3), pp. 652–664

Konecny, M., Markus, J., Waczulikova, I., ...Novosadova, H., Majer, I. The value of SHOX2 methylation test in peripheral blood samples used for the differential diagnosis of lung cancer and other lung disorders. Neoplasma, 2016, 63(2), pp. 246–253.

VI.3 - The most significant research/artistic/other outputs over the last six years