RESEARCHER PROFILE

Algirdas Utkus

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Vilnius University

Genomics and Rare DiseasesGenetic Associations and EpidemiologyMetabolism and Genetic DisordersGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Algirdas Utkus works in Genomics and Rare Diseases, Genetic Associations and Epidemiology, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders. Recorded institutional associations include Vilnius University, Vilnius University Hospital Santariskiu Klinikos.

225Publications
2,229Citations
24H-index

Inclusion identifies researchers whose recorded research contributions may inform their university’s understanding of its research community. It does not rank individual research quality or establish current employment.

Selected research works

Up to 100 highly cited works; DOI links open the original research. Counts reflect the collected record, not real-time citation totals.

  1. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

    2023 · 214 citations
  2. Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations

    2006 · 98 citations
  3. Perspectives in Sports Genomics

    2022 · 80 citations
  4. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

    2020 · 79 citations
  5. Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes

    2016 · 77 citations
  6. Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?

    2021 · 76 citations
  7. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

    2024 · 67 citations
  8. Rare disease education in Europe and beyond: time to act

    2022 · 66 citations
  9. Effects of Virtual Reality-Based Relaxation Techniques on Psychological, Physiological, and Biochemical Stress Indicators

    2021 · 61 citations
  10. AMPD1 rs17602729 is associated with physical performance of sprint and power in elite Lithuanian athletes

    2014 · 57 citations
  11. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

    2021 · 57 citations
  12. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

    2023 · 54 citations
  13. Vilnius Declaration on chronic respiratory diseases: multisectoral care pathways embedding guided self-management, mHealth and air pollution in chronic respiratory diseases

    2019 · 47 citations
  14. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta

    2014 · 46 citations
  15. Variation in FGF1, FOXE1, and TIMP2genes is associated with nonsyndromic cleft lip with or without cleft palate

    2011 · 46 citations
  16. Inhibitory capacity of Rhus coriaria L. extract and its major component methyl gallate on Streptococcus mutans biofilm formation by optical profilometry: Potential applications for oral health

    2017 · 46 citations
  17. Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis

    2020 · 44 citations
  18. Relatives with Opposite Chromosome Constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a Familial Pericentric Inversion

    2014 · 43 citations
  19. A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability

    2013 · 31 citations
  20. Comments on biological asymmetry

    2001 · 31 citations
  21. Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified

    2015 · 31 citations
  22. Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome

    2017 · 29 citations
  23. Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases

    2020 · 26 citations
  24. E-Cigarettes as a Growing Threat for Children and Adolescents: Position Statement From the European Academy of Paediatrics

    2021 · 26 citations
  25. The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population

    2016 · 24 citations

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