Author

Sophia Ceulemans

Primary ORCID profile (0000-0003-0216-4538 · 1 paper)Unclaimed ORCID profile · follow to get notified of new preprints

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Same name, identified by ORCID

Sophia CeulemansiD1 paper · Rady Children's Hospital-San Diego

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Assay:bulk RNA-seq· 1 Assay:ChIP-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Andrew A. HardiganiD· 1 shared Anju Shukla· 1 shared Ashwin Dalal· 1 shared Ayman W. El-Hattab· 1 shared Benjamin Cogné· 1 shared Bertrand Isidor· 1 shared Edward J. Lose· 1 shared Fanny Kortüm· 1 shared

Activity by Year

2016-2016 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

Andrew A. HardiganORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

Frederike Leonie Harms, Katta Mohan Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, , Kerstin Kutsche

The paper identifies EBF3 mutations in individuals with intellectual disability, ataxia, and facial dysmorphism, showing they impair transcriptional regulation and neuronal development.

bioRxiv · Aug 3, 2016 · PreprintGenetics