Concepedia

Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas

Amira Masri, Liyana Oweis, Majd Ali, Hanan Hamamy

Clinical Neurology and Neurosurgery · 2023 · 12 citations · 24 references

DOI

Concepts

References

24

Targeted capture and massively parallel sequencing of 12 human exomes

Sarah Ng, Emily H. Turner, Peggy D. Robertson et al. · Nature · 2009 · 2K citations · Full text

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Practice parameter: Evaluation of the child with global developmental delay [RETIRED]

Michael Shevell, Stephen Ashwal, Dorothy E. Donley et al. · Neurology · 2003 · 831 citations · Full text

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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Jennifer E. Posey, Tamar Harel, Pengfei Liu et al. · New England Journal of Medicine · 2016 · 775 citations · Full text

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Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Daniel Trujillano, Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy et al. · European Journal of Human Genetics · 2016 · 369 citations · Full text

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed et al. · Human Genetics · 2017 · 309 citations · Full text

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