Author

Aiko Iwata‐Otsubo

Children's Hospital of PhiladelphiaORCID 0000-0001-9378-3961Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Kosuke IzumiiD· 2 shared Adele Harman· 1 shared Akiko ShimamuraiD· 1 shared Alan E Fryer· 1 shared Alyssa L. RippertiD· 1 shared Amy M. BremaniD· 1 shared Ana BlatnikiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenetics

Kosuke IzumiORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 27, 2023

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

Morad Ansari, Kamli N. W. Faour, Akiko Shimamura…·Philip M. Boone

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

1 citation

humanDNA methylation

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

GeneticsbioRxivPreprintMay 10, 2019

Dissecting the functions of NIPBL using genome editing: The importance of the N-terminus of NIPBL in transcriptional regulation

Kosuke Izumi, Kazuhiro Akiyama, Katsunori Fujiki…·Katsuhiko Shirahige

This study uses CRISPR/Cas9 to generate NIPBL mutants and shows that the N-terminus of NIPBL is critical for transcriptional regulation by interacting with MAU2.

2 citations

humanexperimental assay

𝕏 PostBluesky