Author

Anju Shukla

Manipal Academy of Higher EducationORCID 0000-0002-8347-429XUnclaimed ORCID profile · follow to get notified of new preprints

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Anju Shukla1 paper

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alessandro ReaiD· 2 shared Henry HouldeniD· 2 shared Huw B. ThomasiD· 2 shared Kevin James MunroiD· 2 shared Kyle Thompson· 2 shared Langping HeiD· 2 shared Leigh A. M. DemainiD· 2 shared Monika OláhováiD· 2 shared

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2024-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alessandro ReaORCID

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2 papers

Recent·Most cited

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, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea, Thashi Bharadwaj, Thomas B. Smith, Monika Oláhová, Kyle Thompson, Langping He, Namanpreet Kaur, Anju Shukla, Musaad F. Abukhalid, Muhammad Ansar, , William G. Newman

The American Journal of Human Genetics · Mar 4, 2025Peer-reviewedGenetic & Genomic Medicine

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

Thomas B. Smith, Robert Kopajtich, Leigh A. M. Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff, Christian Beetz, Shelagh Joss, Gerard S. Conway, Anju Shukla, Mayuri Yeole, Periyasamy Radhakrishnan, Hatem Azzouz, Amel Ben Chehida, Monique Elmaleh, , William G. Newman

This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.

medRxiv · Aug 19, 2024 · PreprintGenetic & Genomic Medicine