Karol Estrada

Maze (United States) — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

71h-index45.9kcitations193works4.02yr avg
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Research Topics

Genetic Associations and Epidemiology(69), Bone health and osteoporosis research(20), Genetic Mapping and Diversity in Plants and Animals(16), Genetic and phenotypic traits in livestock(15), Genomic variations and chromosomal abnormalities(15)

Publications186 total

Evaluation of a structure-based method for <i>ab initio</i> gene detection using deep learning
2025Open Access
Experimentally Validated SLC6A19 Loss-of-Function Variants Improve Kidney Function and Reduce Progression to Kidney Failure
Journal of the American Society of Nephrology·2025
Functional Mapping of APOL1 G1 Reveals Key Regions Modulating Cytotoxicity and Inhibitor Sensitivity
Journal of the American Society of Nephrology·2025
Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty
Nature Aging·2025· 2 citedOpen Access
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
2025· 3 citedOpen Access
Plasma Metabolic Outliers Identified in Estonian Human Knockouts
Metabolites·2025Open Access
Narcolepsy as a potential risk factor for Schizophrenia
Translational Psychiatry·2025· 3 citedOpen Access
Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits
Nature Genetics·2025· 13 citedOpen Access
Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations
Nature Communications·2024· 7 citedOpen Access
Comorbidities confound metabolomics studies of human disease
Scientific Reports·2024· 7 citedOpen Access
SLC6A19 (BOAT1) Allelic Series: Loss of Function Is Associated with Improved Kidney Function
Journal of the American Society of Nephrology·2024
Genetic Susceptibility to Acute Viral Bronchiolitis
The Journal of Infectious Diseases·2024· 5 citedOpen Access
Comorbidities confound metabolomics studies of human disease
2024· 1 citedOpen Access
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants
The American Journal of Human Genetics·2024· 14 citedOpen Access
High-Resolution Genotyping of Formalin-Fixed Tissue Accurately Estimates Polygenic Risk Scores in Human Diseases
Laboratory Investigation·2024· 5 citedOpen Access
NTHL1 is a recessive cancer susceptibility gene
Scientific Reports·2023· 6 citedOpen Access
Genetic Inhibition of APOL1 Pore-Forming Function Prevents APOL1-Mediated Kidney Disease
Journal of the American Society of Nephrology·2023· 57 citedOpen Access
Data Resource Profile: Nationwide registry data for high-throughput epidemiology and machine learning (FinRegistry)
International Journal of Epidemiology·2023· 24 citedOpen Access
The public health impact of poor sleep on severe COVID-19, influenza and upper respiratory infections
EBioMedicine·2023· 26 citedOpen Access
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
Nature Communications·2023· 19 citedOpen Access
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Frequent Co-authors

Fernando Rivadeneira(28), André G. Uitterlinden(24), Albert V. Smith(16), Najaf Amin(16), Albert Hofman(15), Massimo Mangino(14), Guðmar Þorleifsson(13), Reedik Mägi(11), Mary F. Feitosa(11), Zoltán Kutalik(11), M. Carola Zillikens(11), Anne Jackson(10), Joshua C. Randall(10), Tōnu Esko(10), Toby Johnson(10), Inga Prokopenko(10), Jian’an Luan(9), Sailaja Vedantam(9), Carolina Medina‐Gómez(9), Cornelia M. van Duijn(9)