Exome and genome sequencing for diagnosing patients with suspected rare genetic disease
Article in Journal of Genetic Medicine (December 2023)
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Molecular diagnostic yield for Blau syndrome in previously diagnosed juvenile idiopathic arthritis with uveitis or cutaneous lesions
Article in Rheumatology (November 2023)
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders
Article in Journal of Medical Genetics (November 2022)