RESEARCHER PROFILE
Algirdas Utkus
A
Vilnius University
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.
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
2023 · 214 citationsHereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations
2006 · 98 citationsPerspectives in Sports Genomics
2022 · 80 citationsEpilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
2020 · 79 citationsAssociation analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes
2016 · 77 citationsIschemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?
2021 · 76 citationsExome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
2024 · 67 citationsRare disease education in Europe and beyond: time to act
2022 · 66 citationsEffects of Virtual Reality-Based Relaxation Techniques on Psychological, Physiological, and Biochemical Stress Indicators
2021 · 61 citationsAMPD1 rs17602729 is associated with physical performance of sprint and power in elite Lithuanian athletes
2014 · 57 citationsSub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
2021 · 57 citationsGenome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
2023 · 54 citationsVilnius Declaration on chronic respiratory diseases: multisectoral care pathways embedding guided self-management, mHealth and air pollution in chronic respiratory diseases
2019 · 47 citationsTwo mutations in IFITM5 causing distinct forms of osteogenesis imperfecta
2014 · 46 citationsVariation in FGF1, FOXE1, and TIMP2genes is associated with nonsyndromic cleft lip with or without cleft palate
2011 · 46 citationsInhibitory 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 citationsGenetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis
2020 · 44 citationsRelatives 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 citationsA new single gene deletion on 2q34: ERBB4 is associated with intellectual disability
2013 · 31 citationsComments on biological asymmetry
2001 · 31 citationsThiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified
2015 · 31 citationsPhenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome
2017 · 29 citationsManagement of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases
2020 · 26 citationsE-Cigarettes as a Growing Threat for Children and Adolescents: Position Statement From the European Academy of Paediatrics
2021 · 26 citationsThe high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population
2016 · 24 citations
