Augusto Rendon

Genomics England — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

53h-index15.1kcitations162works22.32yr avg
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Research Topics

Genomics and Rare Diseases(29), Cancer Genomics and Diagnostics(20), Platelet Disorders and Treatments(16), Genetic Associations and Epidemiology(15), Genetic factors in colorectal cancer(14)

Publications144 total

Whole genome sequence meta-analyses reveal common and rare genetic associations with critical COVID-19
2025Open Access
The evolution of health data ecosystems: An international survey
The American Journal of Human Genetics·2025Open 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
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice
Journal of Clinical Oncology·2024· 9 citedOpen Access
A call to action to scale up research and clinical genomic data sharing
Nature Reviews Genetics·2024· 37 citedOpen Access
P58 Clinical Impact of Replacing 13-Valent With a 15-Valent Pneumococcal Conjugate Vaccine in Costa Rican National Immunization Program
Value in Health·2024
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
Genetics in Medicine·2024· 4 citedOpen Access
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme
Nature Medicine·2024· 148 citedOpen Access
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Gastroenterology·2023· 6 citedOpen Access
EE524 Cost-Effectiveness of Neoadjuvant Pembrolizumab Plus Chemotherapy Followed by Adjuvant Pembrolizumab for High-Risk Early-Stage Triple Negative Breast Cancer in Costa Rica
Value in Health·2023Open 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
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
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
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Frequent Co-authors

Willem H. Ouwehand(23), Mark J. Caulfield(20), Tom Fowler(18), Richard H. Scott(18), Tim Hubbard(16), Nirupa Murugaesu(16), Christine Patch(16), D. Perez-Gil(16), Arianna Tucci(16), Angela Hamblin(15), F. Maleady-Crowe(15), J. Pullinger(15), Afshan Siddiq(15), Alona Sosinsky(15), Dalia Kasperavičiūtė(15), Marta Bleda(14), Melis Kayikci(14), S. E. A. Leigh(14), Loukas Moutsianas(14), T. Rahim(14)