Author

Namanpreet Kaur

Manipal Academy of Higher Education

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:dimensionality reduction· 1 Research Focus:variant calling· 1

Frequent Co-Authors

William G. NewmaniD· 2 shared Afrah AlshammariiD· 1 shared Ahmet YeşilyurtiD· 1 shared Akhil Kanathay Ashokan· 1 shared Alaa A. Mohammed· 1 shared Alessandro ReaiD· 1 shared Alfredo Cabrera‐OreficeiD· 1 shared Andrew E. FryiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

William G. NewmanORCID

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2 papers

Recent·Most cited

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders

Ankur Chaurasia, Anju Shukla, Shruti Pande, Greeshma Purushothama, Akhil Kanathay Ashokan, Purvi Majethia, Namanpreet Kaur, Priyanka Upadhyai, Neha Quadri, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, Shalini S. Nayak, Sheela Nampoothiri, Ataf Hussain Sabir, Alaa A. Mohammed, , Katta M. Girisha

The paper systematically analyzes homozygous autosomal copy number losses in exomes to improve diagnostic yield and identify ultra-rare recessive disorders.

European Journal of Human Genetics · Jun 27, 2026Peer-reviewedGenetic & Genomic Medicine

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