Associated Papers
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
39627863 (PubMed )
Supplement: 13073_2024_1392_MOESM1_ESM.xlsx › Table_S19
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › PTEN
Identification and clinical significance of somatic oncogenic mutations in epithelial ovarian cancer.
Watanabe T et al.
Journal of Ovarian Research, 2021
34615547 (PubMed )
Supplement: 13048_2021_876_MOESM1_ESM.xlsx › Sheet1
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Pirozzi F et al.
American Journal of Medical Genetics. Part A, 2021
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