Author

Alan S. Ma

The University of SydneyORCID 0000-0002-9293-4753Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:ATAC-seq· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexandra C Martin-GearyiD· 1 shared Alicia LjungdahliD· 1 shared Alison G. ComptoniD· 1 shared Alma Kuechler· 1 shared Angelika Rieß· 1 shared Anjali Gupta HinchiD· 1 shared Anna K. Le FevreiD· 1 shared Anne GorielyiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandra C Martin-GearyORCID

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1 paper

Recent·Most cited

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

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L. Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M. Ellingford, Erwan Delage, Elston N. D’Souza, Shan Dong, , David H. Viskochil

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

Nature · Jul 11, 2024Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest