Melanie Bahlo

Edi-Set-Flow detects differential A-to-I RNA editing in bulk RNA-seq data across tissues and conditions, revealing distinct editing signatures and known protein-recoding events in brain samples.

This study conducts a GWAS meta-analysis of stuttering, identifying genetic links with speech disorders and highlighting shared genetic architecture across different ascertainment methods.

nf-cavalier automates variant annotation, filtering, and reporting for rare Mendelian diseases using customizable criteria and generates user-friendly outputs for clinical teams.

This study uses deep sequencing to identify genetic variants in focal cortical dysplasias, finding pathogenic variants in 71% of cases and highlighting the importance of somatic variants in FCDIIb.

This paper introduces KIML, a machine learning framework that integrates experimental data with biological knowledge to improve disease gene prioritisation, showing better performance than existing methods.

The paper uses iPSC-derived RPE cells to compare molecular differences between AMD with and without reticular pseudodrusen, identifying distinct pathways and genetic influences.

Genome sequencing improves diagnostic yield for developmental and epileptic encephalopathies by identifying structural and non-coding variants missed by exome or gene panel testing.

The paper identifies a chimeric CLMN::SYNE3 RNA transcript from a 14q32.13 duplication as the cause of SCA30, a form of cerebellar ataxia, through RNA-Seq and functional studies.

The paper reports a novel complex structural variant at the FBRSL1 locus causing a dominant-negative mechanism, leading to a severe developmental and epileptic encephalopathy in a patient with additional congenital abnormalities.

This study identifies genetic variants associated with cervical spinal cord morphology and links them to neurological and systemic diseases.

The paper screens whole genome sequencing data from PD and LBD cohorts to identify ATXN2 repeat expansions, finding them in cases but not controls.

The paper identifies three genes associated with vertebral variations and chronic pain using UK Biobank data and deep learning.

The paper uses long-read sequencing data to analyze STR variability across 2,645 individuals, identifying disease-associated STR loci with elevated allelic variability and introducing the PLVI metric.

This study investigates the association between blood mitochondrial DNA copy number and Parkinson's disease, finding that peripheral immune dysfunction, not mitochondrial dysfunction, underlies the observed associations.

The paper introduces a new TR catalog, TRExplorer v1.0, containing 4.86 million loci, designed for both short-read and long-read analyses and includes variation clusters identified using long-read HiFi data.

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

The paper constructs TRCompDB, a database of 4.4 million tandem repeat loci across 832 human genomes, revealing mutation rates and dynamics influenced by recombination and duplication context.

This study compares short-read and long-read sequencing for diagnosing cerebellar ataxia, finding both effective but with different strengths in repeat expansion detection.

The paper identifies RNA editing sites in human retinal transcriptomes and links editing QTLs to retinal diseases.

This study identifies a novel intronic GAA repeat expansion in FGF14 as a cause of autosomal dominant adult-onset ataxia, with (GAA)>335 being fully penetrant and (GAA)>250 likely pathogenic.

This study identifies 18 high-confidence genetic variants in 26% of childhood apraxia of speech cases, expanding the list of candidate genes and highlighting shared pathways with other neurodevelopmental disorders.

The paper identifies cell-class-specific cis-regulatory elements in human retina and organoids, showing their correlation and function in development and disease.

This study genotypes STRs in Plasmodium species using HipSTR and compares genetic diversity and population structure to SNP data, revealing higher resolution and unique signals.

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

The paper identifies RNA editing sites in single cortical neurons and links locus 15q11 with psychiatric illness through differential editing in cell types.

The paper introduces superSTR, an ultrafast alignment-free method for detecting repeat expansions in DNA and RNA sequencing data, identifying known and novel mutations in human and mouse datasets.

The paper identifies loss-of-function KCNH2 variants as enriched in SUDEP patients compared to epilepsy controls, suggesting a genetic biomarker for SUDEP risk.

This study identifies serine biosynthesis as a key driver of MacTel etiology and progression using statistical genetics methods.

This study demonstrates that Nanopore sequencing provides accurate SNV calls and detects structural variants in malaria parasite genomes, comparable to Illumina sequencing, and enables real-time, field-deployable whole genome sequencing.