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

European Journal of Human Genetics 2026 Open access

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Authors: 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
+14 more Sheela Nampoothiri, Ataf Hussain Sabir, Alaa A. Mohammed, Sophie Shaw, Verity L. Hartill, Christopher Mark Watson, Colin A. Johnson, Afrah Alshammari, Andrew E. Fry, James A. Poulter, William G. Newman, Paul R. Kasher, Siddharth Banka, Katta M. Girisha
DOI: 10.1038/s41431-026-02158-y
Cited by: 1
References: 44

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Prenatal Screening and Diagnostics

Publication details

Journal / source
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Volume
34
Issue
8
Pages
1059–1069
Publication date
27 June 2026
Language
EN