Alan Michael Pittman

This study meta-analyzes lipoedema cohorts from the UK and Spain with UK Biobank data, identifying overlapping susceptibility loci and rare SNPs associated with the disorder.

The paper compares the transcriptional responses of immune cells to three fungal pathogens in vitro, finding distinct expression patterns and a weaker response to cryptococcal stimuli.

This study conducts a GWAS on a UK lipoedema cohort, identifying genetic loci associated with the disease, including those related to lipoma formation and hormone biosynthesis.

The paper identifies KAT8 and KANSL1 as regulators of PINK1-mitophagy linked to Parkinson's disease risk, suggesting a novel pathway for therapeutic targeting.

This study identifies inherited PPP2R3B duplications as a melanoma predisposing factor, revealing a C21orf91-driven proliferative phenotype in melanocytes.

The paper identifies bi-allelic variants in TSPOAP1 as a cause of autosomal recessive dystonia, showing different clinical presentations based on variant type.

This study creates a Drosophila model with a hSlo1 D434G mutation, showing motor dysfunction and altered action potentials linked to BK channel gain-of-function.

The paper examines DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease, finding no significant effect of DNM3 on age at onset but a possible interaction between LRRK2 and VAMP4.

DNAscan is a fast and memory-efficient pipeline for analyzing DNA NGS data, capable of detecting SNVs, indels, SVs, and other variants with minimal computational resources.

This study identifies a genetic variant at the TRIM11 locus associated with Progressive Supranuclear Palsy phenotype through GWAS and validates it in independent cohorts.

The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.

The paper shows DNA isolation methods affect array CGH, ddPCR, and whole genome sequencing results in human brain tissue, with protocol-dependent biases in GC coverage and mtDNA copy number.