The paper identifies a new ALPK1 variant causing ROSAH syndrome and shows it has altered activation by different metabolites, explaining autoinflammatory episodes.

2 citations

humanexperimental assay

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintSep 29, 2022

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano…·Gregory M. Cooper

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

DOI 10.1101/2022.09.29.22279724

humanstatistical model

𝕏 PostBluesky

Geneticsnpj Genomic MedicinePeer-reviewedJan 21, 2019

Both rare and common genetic variants contribute to autism in the Faroe Islands

Claire S. Leblond, Freddy Cliquet, Coralie Carton-Buonafine…·Thomas Bourgeron

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.

84 citationstop 2%

humanwhole-exome sequencing

𝕏 PostBluesky