Lidiia Zhytnik

Postdoctoral Researcher

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  • Address

    Vrije Universiteit Amsterdam
    Center for Neurogenomics and Cognitive Research (CNCR)
    Department of Complex Trait Genetics
    W&N building, Room G-349
    De Boelelaan 1085
    1081 HV Amsterdam
    The Netherlands

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Short CV

2021 – present Postdoctoral researcher Amsterdam UMC / Vrije Universiteit Amsterdam
2021 – present Orthogenomics researcher The University of Tartu, Estonia
2020 – 2021 Researcher Competence Centre on Health Technologies, Estonia
2019 – 2020 Clinical research coordinator Tartu University Hospital, Estonia
2015 – 2019 PhD in Medicine The University of Tartu, Estonia
2012 – 2014 MSc in Biomedicine The University of Tartu, Estonia
2008 – 2012 BSc in Gene Technology The University of Tartu, Estonia


I aim to improve the quality of life for patients with rare bone disorders by research with bridging the collaboration between professionals and patient representatives. Special area of my interest is congenital bone fragility genetics, disease models, and development of outcome-relevant therapies.

In the Connective Tissue Disorder Centre (Dr. D. Micha) of Amsterdam UMC in the Human genetics department we are working on animal and cell modeling for Osteogenesis Imperfecta (OI) a rare brittle bone disorder. Using the expertise of CTG (lab of Dr. V. Heine) we have generated patient-induced mesenchymal stem cells (iMSCs), and utilize them for testing of pharmacological and gene therapy approaches.

Highlighted publications

1. “Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports” Storoni S, Celli L, Zhytnik L … Eur J Med Genet. 2023 Sep 26;66(11):104857. doi: 10.1016/j.ejmg.2023.104857. Epub ahead of print. PMID: 37758164.

2. “The intricate mechanism of PLS3 in bone homeostasis and disease” Zhong W, Pathak JL, Liang Y, Zhytnik L …, Front. Endocrinol. 2023 14:1168306. doi: 10.3389/fendo.2023.1168306

3. “Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1”. Verdonk SJE, Storoni S, Zhytnik L, … Calcif Tissue Int. 2023 Jun 6. doi: 10.1007/s00223-023-01101-3. Epub ahead of print. PMID: 37277619.

4. “From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients”. Storoni S, Verdonk SJE, Zhytnik L … Biomolecules. 2023 Feb 2;13(2):281. doi: 10.3390/biom13020281. PMID: 36830650; PMCID: PMC9953243.

5. “Exploration of the skeletal phenotype of the Col1a1+/Mov13 mouse model for haploinsufficient osteogenesis imperfecta type 1” Claeys L, Zhytnik L

6. “Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant”, Zhytnik L et al. Genes (Basel) 2022 Feb 24;13(3):407. doi: 10.3390/genes13030407.

7. “From Late Fatherhood to Prenatal Screening of Monogenic Disorders: Evidence and Ethical Concerns” Zhytnik L et al., A. Hum Reprod Update 2021 Oct 18;27(6):1056-1085. doi: 10.1093/humupd/dmab023.

8. “A Standard Set of Outcome Measures for the Comprehensive Assessment of Osteogenesis Imperfecta” W. Nijhuis W; Franken A; Ayers K, … Zhytnik L ; C.Zillikens ; M.Verhoef, Orphanet J Rare Dis 16, 140 (2021),

9. “RNA Sequencing Analysis Reveals Increased Expression of Interferon Signaling Genes and Dysregulation of Bone Metabolism Affecting Pathways in the Whole Blood of Patients with Osteogenesis Imperfecta”. Zhytnik L et al. BMC Med Gen. 2020, 13:177

10. “Reproductive options for families at risk of Osteogenesis Imperfecta: a review. Zhytnik L et al. Orphanet J Rare Dis 2020, 15, 128,

11. “Inter- and intrafamilial phenotypical variability in individuals with collagen-related Osteogenesis Imperfecta.” Zhytnik L et al. Clin Transl Sci 2020, doi:10.1111/cts.12783

12. “COL1A1/2 pathogenic variants and phenotype characteristics in Ukrainian Osteogenesis Imperfecta patients”. Zhytnik L et al., Front Genet. 2019; 10:722 doi: 10.3389/fgene.2019.00722

13. “IFITM5 pathogenic variant causes Osteogenesis Imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients”. Zhytnik L et al. Hum Genomics. 2019 13:25 doi:10.1186/s40246-019-0209-3

14. “De novo and inherited pathogenic variants in collagen-related Osteogenesis Imperfecta”. Zhytnik L et al. Mol Genet Genomic Med. 2019;e559. https://doi. org/10.1002/mgg3.559

15. „Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients”. Zhytnik L et al., Hum Genomics. 2017;11(1):19. doi:10.1186/s40246-017-0115-5

16. “Transcriptional Landscape Analysis Identifies Differently Expressed Genes Involved in Follicle-Stimulating Hormone Induced Postmenopausal Osteoporosis”. (Featured article). Maasalu K, Laius O, Zhytnik L,… Exp Biol Med (Maywood). 2017 Jan;242(2):203-213. doi:10.1177/1535370216679899

17. “The clinical features of OI in Vietnam”. Binh HD, Maasalu K, …*Zhytnik L* … A Int Orthop. 2017 Jan;41(1):21-29. doi: 10.1007/s00264-016-3315-z

18. „Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta“ Binh HD, Zhytnik L …Hum Genomics. 2016; 10: 27. doi: 10.1186/s40246-016-0083-1

19. „Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe Osteogenesis Imperfecta“.Maasalu K… Zhytnik L … Hum Genomics. 2015; 9:6. doi: 10.1186/s40246-015-0028-0