Author

Dennis Bartholomew

Nationwide Children's HospitalORCID 0000-0002-3971-1948Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:Drosophila· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alina KurolapiD· 1 shared Amy Siemon· 1 shared Ange‐Line BrueliD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Annie GodwiniD· 1 shared Antonio NovelliiD· 1 shared Ashita Dave‐Wala· 1 shared Claudia CiaccioiD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alina KurolapORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 11, 2023

Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder

Eleanor G. Seaby, Annie Godwin, Valentine Clerc…·Sarah Ennis

The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.

DOI 10.1101/2023.10.11.23295963

mousezebrafish

Genetic & Genomic MedicineScience AdvancesPeer-reviewedMay 12, 2021

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Dong Li, Qin Wang, Naihua Natalie Gong…·Hakon H. Hakonarson

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

30 citations

humanDrosophila