Associated Papers
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet1_SMARCA2_4_pathogenecity
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33547396 (PubMed )
Supplement: 41436_2020_1096_MOESM2_ESM.xlsx › Validation
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up.
Ejaz R et al.
Clinical Case Reports, 2016
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014
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