Concepedia

Magdaléna Harakaľová

MH

Statistics

Publications

40

Citations

3K

H-Index

30

Active since

2007

Affiliations

University Medical Center Utrecht(Current)

Utrecht University

University College London

Health Data Research UK

Amsterdam University Medical Centers

Magdaléna Harakaľová is an author at University Medical Center Utrecht specializing in life sciences, genetics, and medical genetics.

ORCID

Publications per year

2007–2023

40

Publications

40

The Translational Landscape of the Human Heart

Sebastiaan van Heesch, Franziska Witte, Valentin Schneider-Lunitz et al. · Cell · 2019 · 677 citations · Full text

, , +14

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Saskia B. Wortmann, Frédéric M. Vaz, Thatjana Gardeitchik et al. · Nature Genetics · 2012 · 207 citations · Full text

, , +17

Dominant missense mutations in ABCC9 cause Cantú syndrome

Magdaléna Harakaľová, J. J. T. van Harssel, Stef van Lieshout et al. · Nature Genetics · 2012 · 200 citations

, , +9

Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

Peter M. van Hasselt, Sacha Ferdinandusse, Glen R. Monroe et al. · New England Journal of Medicine · 2014 · 120 citations · Full text

, , +16

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Saskia N. van der Crabben, Marije P. Hennus, Grant A. McGregor et al. · Journal of Clinical Investigation · 2016 · 111 citations · Full text

, , +17

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