Author

Farrah Rajabi

Boston Children's HospitalORCID 0000-0001-5337-5090Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Organism:Drosophila· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Organism:zebrafish· 1

Frequent Co-Authors

Boris KereniD· 2 shared Julián A. Martínez-AgostoiD· 2 shared Stanley F. NelsoniD· 2 shared Adam JacksoniD· 1 shared Alden Yen-Wen Huang· 1 shared Alexander P.A. StegmanniD· 1 shared Ana Beleza‐MeirelesiD· 1 shared Anne Michele SlavotinekiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetics

Boris KerenORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintFeb 6, 2024

Loss of function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Yue Huang, Kristy L. Jay, Alden Yen-Wen Huang…·Julián A. Martínez-Agosto

The paper identifies de novo RBBP5 variants in individuals with neurodevelopmental disorders and shows they cause loss of function through structural and Drosophila model analyses.

2 citations

Drosophilaexperimental assay

𝕏 PostBluesky

Genetic & Genomic MedicineGenome MedicinePeer-reviewedMay 21, 2021

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Ilaria Mannucci, Nghi Doan-Phuong Dang, Hannes Huber…·Davor Lessel

This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

35 citations

zebrafishstatistical model

𝕏 PostBluesky