Anne Boland

The paper uses a five-layer systems analysis to show that protein degradation, not genomic changes, drives stage differentiation in Leishmania parasites.

The paper identifies novel drug candidates for ALS and monogenic diseases by analyzing drug-induced gene expression changes in human pluripotent stem cells using RNA sequencing.

SURFBAT approximates transmission-disequilibrium tests using imputed haplotypes to detect genotype-phenotype associations while being robust to population stratification.

The paper identifies genetic loci and proteins associated with venous thromboembolism recurrence risk using GWAS and subgroup analyses across different thrombotic subtypes.

This study develops multi-ancestry polygenic risk scores for venous thromboembolism using diverse GWAS data and shows improved predictive performance across European- and African-ancestry populations.

The paper sequenced 14 Moroccan Leishmania tropica isolates to study genomic heterogeneity, identifying a core group and two divergent strains with distinct SNP profiles.

The paper identifies PSKH2 as a gene influencing variability in Factor V plasma activity through genome-wide analysis of non-additive allele effects.

The paper evaluates whether using a local reference panel improves imputation accuracy in French individuals compared to a public reference panel, showing benefits of combining both approaches.

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

This study identifies 135 genomic loci associated with venous thromboembolism risk through cross-ancestry GWAS and provides insights into biological pathways and potential therapeutic targets.

This study identifies eight novel lung cancer susceptibility loci and shows that germline variants related to smoking and DNA repair influence somatic mutation burden in lung tumors.

The paper analyzes genetic structure in Brittany and the Loire basin to understand Western Europe's demographic history, finding increased population differentiation linked to steppe and Neolithic ancestry.

This study identifies gene dysregulation and striosome-matrix imbalance in Shank3 mutant mice, linking these changes to behavioral abnormalities associated with autism.

ContaTester estimates cross-contamination in human DNA samples using VCF files, offering fast and efficient contamination detection for large cohorts.

The paper estimates the penetrance of SORL1 loss-of-function variants in Alzheimer's disease using a family-based survival model adjusted for APOE genotypes, finding high penetrance only in APOE-ε4ε4 carriers.

This study evaluates saliva as a source for whole-genome and microbiome sequencing by comparing it to blood-based sequencing in 39 individuals.

This study identifies genetic risk loci for differentiated thyroid cancer in multiethnic populations, finding novel associations and allele frequency differences between Oceanian and European ancestry groups.

This study performs a large GWAS on dilated cardiomyopathy, identifying two new loci and confirming two existing ones, with potential therapeutic implications.

The paper identifies a PSMC3 variant causing a neurosensory syndrome with deafness and cataracts due to proteotoxic stress and impaired proteasome function.

The paper identifies protein-protein interactions on Chr21 linked to intellectual disabilities, autism, and Alzheimer's by analyzing yeast two-hybrid screens and synaptic localization.

This paper conducts the first GWAS on non-severe malaria in infants, identifying genetic variants associated with susceptibility to mild malaria and highlighting candidate genes involved in innate immunity.

This study identifies both rare and common genetic variants contributing to autism in the Faroe Islands by analyzing SNP array and whole exome sequencing data from 357 individuals.

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.

Genetic correlations across 25 brain disorders (215,683 cases) reveal broad psychiatric common-variant sharing, largely distinct neurological disorders, and migraine as the only significant cross-category link.

This study performs a large GWAS of Alzheimer's disease, identifies four new risk loci, and highlights pathways involving immunity, lipid metabolism, and APP/Aβ processing.

The paper introduces QuantumClone, a method for clonal reconstruction in cancer that accounts for variant allele frequencies and genotypes, and applies it to neuroblastoma samples to identify recurrently altered pathways in different clonal populations.