Ana Lisa Taylor Tavares

University of Leeds — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

25h-index1.9kcitations59works30.02yr avg
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Research Topics

Genomics and Rare Diseases(17), Cancer Genomics and Diagnostics(10), RNA Research and Splicing(9), Genomic variations and chromosomal abnormalities(9), RNA modifications and cancer(7)

Publications54 total

Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
The American Journal of Human Genetics·2025· 12 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
Origins and impact of extrachromosomal DNA
Nature·2024· 112 citedOpen Access
Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments
2024· 5 citedOpen Access
The maintenance of oocytes in the mammalian ovary involves extreme protein longevity
Nature Cell Biology·2024· 44 citedOpen Access
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
Genetics in Medicine·2024· 4 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
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
Journal of Medical Genetics·2023· 9 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
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
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
Scientific Reports·2023· 7 citedOpen Access
The genomic landscape of familial glioma
Science Advances·2023· 44 citedOpen Access
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency
Human Mutation·2023· 7 citedOpen Access
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition
Brain·2023· 55 citedOpen Access
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
Human Genetics and Genomics Advances·2023· 12 citedOpen Access
Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population
Brain·2023· 25 citedOpen Access
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Frequent Co-authors

Helen Brittain(34), R. Bevers(31), Federico Minneci(31), Nirupa Murugaesu(31), Anna C. Need(31), D. Perez-Gil(30), Adam Giess(30), Angela Hamblin(30), Tim Hubbard(30), Melis Kayikci(30), S. E. A. Leigh(30), Loukas Moutsianas(30), Peter O’Donovan(30), Christine Patch(30), J. Pullinger(30), T. Rahim(30), Richard H. Scott(30), M. Tanguy(30), Arianna Tucci(30), Marta Bleda(29)