Author

Christopher J. Carroll

University of LondonORCID 0000-0002-2814-6955Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:differential expression· 3 Assay:bulk RNA-seq· 2 Research Focus:cell type annotation· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:protein structure prediction· 1 Assay:proteomics· 1

Frequent Co-Authors

Henry HouldeniD· 3 shared Reza MaroofianiD· 3 shared Giovanni ZifarelliiD· 2 shared Mohammad MiryounesiiD· 2 shared Peter BaueriD· 2 shared Robert William TayloriD· 2 shared Sahar AlijanpouriD· 2 shared Abraham José Paredes-FuentesiD· 1 shared

Activity by Year

2023-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Henry HouldenORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 4, 2025

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Huw B. Thomas, Leigh A. M. Demain, Alfredo Cabrera‐Orefice…·William G. Newman

14 citationstop 5%

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintNov 27, 2024

CLINICAL AND MOLECULAR CHARACTERISATION OF SLC31A1-RELATED NEURODEVELOPMENTAL DISORDER.

Natalia Juliá‐Palacios, Gerard Muñoz‐Pujol, Reza Maroofian…·Roser Urreizti

This study characterizes a neurodevelopmental disorder caused by bi-allelic SLC31A1 mutations, showing severe clinical features and mitochondrial dysfunction.

DOI 10.1101/2024.11.27.24317634

humanbulk RNA-seq

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Molecular BiologyiSciencePeer-reviewedJun 5, 2024

Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation

Taru Hilander, Ryan Awadhpersad, Geoffray Monteuuis…·Christopher J. Carroll

The paper investigates the functional roles of 14 unique human mitochondrial ribosomal proteins in the small subunit, showing their essentiality in assembly and translation, with a redox-regulated role for mS37.

7 citations

humanproteomics

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Genetic & Genomic MedicinemedRxivPreprintApr 26, 2023

Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia

Yuji Nakamura, Issei S. Shimada, Reza Maroofian…·Shinji Saitoh

This study identifies biallelic PNPLA8 variants causing microcephaly by reducing basal radial glia in cerebral organoids and disrupting phospholipid metabolism.

1 citation

humanbulk RNA-seq

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