Jenefer Mary Blackwell

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients

The paper analyzes whole exome sequencing data from 16 Indian cryptogenic stroke patients to identify rare coding variants in stroke-related genes and assess their potential pathogenicity.

A genome-wide association study highlights a regulatory role for IFNG-AS1 contributing to cutaneous leishmaniasis in Brazil

This study conducts a genome-wide association study to identify genetic risk factors for cutaneous leishmaniasis in Brazil, finding novel associations and highlighting the regulatory role of IFNG-AS1 in interferon-gamma responses.

Meta-taxonomic Analysis of Prokaryotic and Eukaryotic Gut Flora in Stool Samples from Visceral Leishmaniasis Cases and Endemic Controls in Bihar State India

The paper uses meta-taxonomic analysis of gut flora in VL cases and controls to identify microbial associations with disease status and diversity.

Transcriptional Blood Signatures for Active and Amphotericin B Treated Visceral Leishmaniasis in India

This paper identifies transcriptional signatures in whole blood associated with asymptomatic Leishmania donovani infection, active visceral leishmaniasis, and treatment outcomes with different amphotericin B regimens.

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

This study identifies 114 genome-wide significant loci for schizophrenia and bipolar disorder, with specific subphenotype associations and four genes distinguishing the disorders.

Genome-wide analysis of genetic risk factors for rheumatic heart disease in Aboriginal Australians provides support for pathogenic molecular mimicry

This study identifies HLA-DQA1-DQB1 variants as genetic risk factors for rheumatic heart disease in Aboriginal Australians, supporting molecular mimicry as a pathogenic mechanism.