Dalia Kasperavičiūtė

University of Leeds — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

48h-index11.9kcitations134works4.82yr avg
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Research Topics

Genomics and Rare Diseases(34), Genetic Associations and Epidemiology(18), Genomic variations and chromosomal abnormalities(18), Genetics and Neurodevelopmental Disorders(17), RNA modifications and cancer(12)

Publications123 total

Screening 100,000 newborns using whole genome sequencing: the generation study
Endocrine Abstracts·2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study
Genetics in Medicine·2025· 4 citedOpen Access
Assessment of the variant prioritisation strategy for genomic newborn screening in the Generation Study
2025· 2 citedOpen Access
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing
Nature Communications·2025· 4 citedOpen Access
The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas
Gastric Cancer·2025· 3 citedOpen Access
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease
Journal of Nephrology·2025Open Access
Equity in genome sequencing for rare disease diagnosis: a cross-sectional analysis of data from the UK 100,000 Genomes Project
2024· 6 citedOpen Access
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing
2024· 3 citedOpen Access
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
Genetics in Medicine·2024· 4 citedOpen Access
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure
Genetics in Medicine·2023· 15 citedOpen Access
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Gastroenterology·2023· 6 citedOpen Access
A novel likely pathogenic CLCN5 variant in Dent’s disease
BMC Nephrology·2023· 3 citedOpen Access
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Kidney International·2023· 33 citedOpen Access
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
The American Journal of Human Genetics·2023· 18 citedOpen Access
Age and Sex Differences in the Genetics of Cardiomyopathy
Journal of Cardiovascular Translational Research·2023· 20 citedOpen Access
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
Brain·2023· 66 citedOpen Access
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Nature Communications·2023· 21 citedOpen Access
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping
Genome Medicine·2023· 23 citedOpen Access
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
The American Journal of Human Genetics·2023· 39 citedOpen Access
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease
Kidney International·2023· 25 citedOpen Access
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Frequent Co-authors

Anna C. Need(19), Richard H. Scott(18), Arianna Tucci(16), D. Perez-Gil(16), Helen Brittain(15), Mark J. Caulfield(15), Augusto Rendon(15), Marta Bleda(15), Angela Hamblin(15), Nirupa Murugaesu(15), Christine Patch(15), T. Rahim(15), S. E. A. Leigh(14), John C. Ambrose(14), F. Boardman-Pretty(14), C. R. Boustred(14), Tim Hubbard(14), J. Louise Jones(14), Melis Kayikci(14), L. Lahnstein(14)