Matthew Maher

This study examines the association between maternal and fetal HLA heterozygosity and preeclampsia risk in a large multi-ancestry cohort, finding protective and risk associations for specific HLA loci.

The paper identifies 260 genes associated with sleep phenotypes using rare coding variants from large-scale sequencing data, revealing distinct genetic architectures and biological mechanisms across different sleep measurements.

This study identifies genetic associations for multiple sleep disorders and medications in over 1.6 million individuals, revealing shared and unique genetic factors across sleep traits.

This study uses Drosophila to model insomnia-associated genes and identifies genetic factors influencing sleep quantity, timing, and quality, revealing subtype-specific effects.

This study performs genome-wide association analysis on composite sleep health scores, identifying 28 novel loci and confirming 341 previously reported loci, with insights into genetic mechanisms and pathways.

This study identifies ADRA2A as a major risk locus for Raynaud's syndrome through genome-wide association analysis and functional validation in vascular smooth muscle cells.

The paper introduces MATK, an automated variant ranking tool for Mendelian disease diagnosis, showing it identifies most expert solutions and finds additional variants in unsolved cases.

The paper identifies copy-number variations (CNVs) as a significant contributor to unsolved inherited retinal degeneration (IRD) cases, increasing the genetic diagnostic rate through NGS-based CNV detection.