Author

Caroline D. Robson

Boston Children's HospitalORCID 0000-0001-5592-249XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Abna AjeeshiD· 1 shared Adriano MagliiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Brandon M. PrattiD· 1 shared Brenda J. BarryiD· 1 shared Christopher A. WalshiD· 1 shared Cristina Rivera QuilesiD· 1 shared Cynthia Casson MortoniD· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abna AjeeshORCID

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2 papers

Recent·Most cited

NeurosciencebioRxivPreprintSep 12, 2024

Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays

Julie A. Jurgens, Paola M. Matos Ruiz, Jessica King…·Elizabeth C. Engle

The paper identifies three novel candidate genes for ocular congenital cranial dysinnervation disorders using zebrafish CRISPR screening and protein binding microarrays to assess variant functionality.

4 citations

zebrafishhuman

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Genetic & Genomic MedicineHuman GeneticsPeer-reviewedJul 1, 2024

Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements

Rebecca Andersen, Ibrahim F. Alkuraya, Abna Ajeesh…·Cynthia Casson Morton

The paper identifies chromosomal structural rearrangements disrupting long non-coding RNAs (lncRNAs) in individuals with rare germline disorders, highlighting potential pathogenic roles of lncRNA disruptions.

12 citations

humanwhole-genome sequencing

𝕏 PostBluesky