Author

Marco L. Leung

Nationwide Children's HospitalORCID 0000-0003-3312-8468Unclaimed 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· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Organism:zebrafish· 1

Frequent Co-Authors

Adele Harman· 1 shared Aiko Iwata‐OtsuboiD· 1 shared Alyssa L. RippertiD· 1 shared Ange‐Line BrueliD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Annie GodwiniD· 1 shared Antonio NovelliiD· 1 shared Beth A. Keena· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Adele Harman

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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

𝕏 PostBluesky

GeneticsbioRxivPreprintSep 29, 2020

Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder

Yukiko Kuroda, Aiko Iwata‐Otsubo, Kerith‐Rae Dias…·Kosuke Izumi

This study identifies de novo CBX1 variants in three individuals with neurodevelopmental features and shows they cause dominant-negative effects by disrupting HP1β chromatin binding.

DOI 10.1101/2020.09.29.319228

humanstatistical model

𝕏 PostBluesky