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

European Journal of Human Genetics · Published 2026-06-27 · DOI 10.1038/s41431-026-02158-y

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Authors (26)

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 H. Sabir, Alaa A. Mohammed, Sophie Shaw, Verity L. Hartill, Christopher M. Watson, Colin A. Johnson, Afrah Alshammari, Andrew E. Fry, James A. Poulter, William G. Newman, Paul R. Kasher, Siddharth Banka, Katta M. Girisha

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Publication details

Year

2026

Citation

Chaurasia, A., Shukla, A., Pande, S., et al. (2026). Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders. European Journal of Human Genetics. https://doi.org/10.1038/s41431-026-02158-y

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