Author

Kandamurugu Manickam

Nationwide Children's HospitalORCID 0000-0001-6269-7710Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam H. BuchananiD· 1 shared Adele Harman· 1 shared Aiko Iwata‐OtsuboiD· 1 shared Alanna Kulchak RahmiD· 1 shared Alberto Fernández‐JaéniD· 1 shared Alexandra AfenjariD· 1 shared Alyssa L. RippertiD· 1 shared Amanda L. Lazzeri· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 12 mutual co-author links

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1 shared paperGenomics

Adam H. BuchananORCID

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3 papers

Recent·Most cited

GeneticsbioRxivPreprintJan 19, 2026

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

Hendrikus J. van Heesbeen, Nazim Rabouhi, Aurélie Gouronc…·Philippe M. Campeau

This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.

DOI 10.64898/2026.01.15.698931

humanexperimental assay

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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

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GenomicsThe American Journal of Human GeneticsPeer-reviewedAug 9, 2018

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

Marci L.B. Schwartz, Cara Zayac McCormick, Amanda L. Lazzeri…·Michael F. Murray

The paper describes a model for returning secondary genomic findings to participants and healthcare providers in a large research cohort, with 93% successful contact rates and 222 providers notified.

182 citationstop 1%

humanwhole-exome sequencing

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