Author

K. Ounap

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Physiology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Approach:biophysical modeling· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:protein folding & dynamics· 1

Frequent Co-Authors

A. A. Schinzel· 1 shared A. C. S. Fonseca· 1 shared A. Chopra· 1 shared A. D'Amico· 1 shared A. Hau· 1 shared A. Lind-Thomsen· 1 shared A. M. Vianna-Morgante· 1 shared A. Oldfors· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

A. A. Schinzel

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Human light meromyosin mutations linked to skeletal myopathies disrupt the coiled coil structure and myosin head sequestration

G. Carrington, A. Hau, S. Kosta, H. Dugdale, F. Muntoni, A. D'Amico, P. Van den Bergh, N. Romero, E. Malfatti, J. J. Vilchez, A. Oldfors, S. Pajusalu, K. Ounap, M. Giralt-Pujol, E. Zanoteli, , J. Ochala

This study investigates how mutations in MYH7 and MYH2 genes affect myosin structure and function, finding that they disrupt coiled-coil structure and increase ATP consumption without affecting contractile function.

bioRxiv · May 15, 2023 · PreprintPhysiology

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

C. Lowther, M. M. Mehrjouy, R. L. Collins, M. C. Bak, O. Dudchenko, H. Brand, Z. Dong, M. B. Rasmussen, L. Nazaryan-Petersen, H. Gu, D. Weisz, A. S. Fjorder, Y. Mang, A. Lind-Thomsen, J. M. M. Mendez, , K. Ounap

The paper analyzes balanced chromosomal rearrangements in developmental disorders, finding noncoding variants disrupt TADs and contribute to pathogenic long-range positional effects.

medRxiv · Feb 15, 2022 · PreprintGenetic & Genomic Medicine