Alexandra C Martin-Geary

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes

Nechama Wieder, Elston N. D’Souza, Alexandra C Martin-Geary et al. · Genome biology · 2024 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants

Jenny Lord, Carolina Jaramillo Oquendo, Htoo A. Wai et al. · Genetics in Medicine · 2024 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · medRxiv · 2024 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17