Author

Ganka Douglas

ORCID 0000-0003-4113-6505Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Organism:zebrafish· 3 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Research Focus:protein structure prediction· 1

Frequent Co-Authors

Yue Cindy SiiD· 2 shared Aida Bytyci TelegrafiiD· 1 shared Akemi J. Tanaka· 1 shared Alexandre ReymondiD· 1 shared Alfredo BruscoiD· 1 shared Alica M. GoldmaniD· 1 shared Alicia Boughton· 1 shared Ambro van HoofiD· 1 shared

Activity by Year

2019-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 19 mutual co-author links

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2 shared papersGenetics

Yue Cindy SiORCID

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3 papers

Recent·Most cited

GeneticsHuman Molecular GeneticsPeer-reviewedJun 1, 2020

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Anne Michele Slavotinek, Doriana Misceo, Stephanie Htun…·Anita H. Corbett

The paper reports three patients with biallelic EXOSC5 variants causing developmental delays, short stature, and cerebellar hypoplasia, and shows functional defects in RNA exosome activity.

37 citations

humanzebrafish

𝕏 PostBluesky

GeneticsbioRxivPreprintDec 4, 2019

Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features.

Francesca Mattioli, Gaëlle Hayot, Nathalie Drouot…·Amélie Piton

The paper identifies de novo frameshift variants in NOVA2 causing a severe neurodevelopmental disorder with intellectual disability and autistic features, and shows altered RNA splicing and functional deficits.

DOI 10.1101/858696

humanzebrafish

𝕏 PostBluesky

GeneticsbioRxivPreprintJul 17, 2019

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

Norine Voisin, Rhonda E. Schnur, Sofia Douzgou…·Alexandre Reymond

The paper identifies degron variants in AFF3 causing a multi-system disorder with specific clinical features and demonstrates phenotypic overlap with AFF4-related syndromes.

DOI 10.1101/693937

humanzebrafish

𝕏 PostBluesky