npj Genomic Medicine

ISSN: 2056-7944
Publisher: Nature Publishing Group

Publications (3)

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Journal article
Unpublished / Preprint

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Abstract

Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept (2022) Lee M, Kwong AKY, Chui MMC, Chau JFT, Mak CCY, Au SLK, Lo HM, et al. Journal article Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders (2022) Boonsawat P, Horn AHC, Steindl K, Baumer A, Joset P, Kraemer D, Bahr A, et al. Journal article Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis. (2022) Kerick M, Acosta-Herrera M, Pilar Simeon-Aznar C, Luis Callejas J, Assassi S, Proudman SM, Nikpour M, et al. Journal article