Manuel A. R. Ferreira

This study identifies 207 height-associated genes using rare protein-altering variants from over 1.4 million individuals, showing large effect sizes and overlap with Mendelian height syndromes.

The paper introduces REMETA, a tool for efficiently performing meta-analysis of gene-based tests using summary statistics, demonstrating its application on UK Biobank data.

The paper identifies SLC39A5 as a gene whose loss-of-function variants are associated with reduced type II diabetes risk and improved liver function in metabolic disorders.

The paper introduces SBAT, a method for joint testing of rare variant burden scores, showing it is well calibrated and outperforms existing tests in some scenarios.

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

This study identifies 144 genetic loci associated with abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target through Mendelian Randomization and pre-clinical validation.

The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.

This study uses exome sequencing of 628,388 individuals to identify genetic variants associated with clonal hematopoiesis and its health outcomes.

The paper conducts a genome-wide association study of liver fat, iron, and extracellular fluid fraction using UK Biobank MRI data, identifying novel genetic loci for these traits.

This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.

The paper introduces REGENIE, a fast whole genome regression method for quantitative and binary traits, showing computational efficiency and accuracy on UK Biobank data.

This study identifies robust gene-phenotype associations by analyzing rare loss-of-function variants in exome-wide data linked to electronic health records.