Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study

European Journal of Human Genetics · Published 2026-07-09 · DOI 10.1038/s41431-026-02179-7

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Authors (18)

Nadja Louw, Prince Makay, Phelelani T. Mpangase, Barry Shingwenyana, Zandisiwe Goliath, Thirona Naicker, Laura M. Yates, Engela Honey, Gerrye Mubungu, Kris Van Den Bogaert, Helen V. Firth, Matthew E. Hurles, Prosper Lukusa Tshilobo, Koen Devriendt, Amanda Krause, Nadia Carstens, Aimé Lumaka, Zané Lombard

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Publication details

Year

2026

Citation

Louw, N., Makay, P., Mpangase, P., et al. (2026). Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study. European Journal of Human Genetics. https://doi.org/10.1038/s41431-026-02179-7

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