| Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome E Engal, KT Oja, R Maroofian, O Geminder, TL Le, P Marzin, A Guimier, ... The American Journal of Human Genetics 110 (12), 2112-2119, 2023 | 4 | 2023 |
| Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome E Engal, KT Oja, R Maroofian, O Geminder, TL Le, E Mor, N Tzvi, ... medRxiv, 2023 | 3 | 2023 |
| High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients SW Ryu, WC Jeong, GR Hong, JS Cho, SY Lee, H Kim, JY Jang, SH Lee, ... Frontiers in cardiovascular medicine 11, 1424551, 2024 | 1 | 2024 |
| Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders H Han, GH Seo, SI Hyun, K Kwon, SW Ryu, R Khang, E Lee, JH Kim, ... npj Genomic Medicine 10 (1), 6, 2025 | | 2025 |
| A Deep Learning Model to Predict Breast Implant Texture Types Using Ultrasonography Images: Feasibility Development Study HH Kim, WC Jeong, K Pi, AS Lee, MS Kim, HJ Kim, JH Kim JMIR Formative Research 8, e58776, 2024 | | 2024 |
| Understanding Stain Separation Improves Cross-Scanner Adenocarcinoma Segmentation with Joint Multi-Task Learning HH Kim, WC Jeong, YS Ko, YJ Park arXiv preprint arXiv:2409.13246, 2024 | | 2024 |
| Clinical and neuroradiological spectrum of biallelic variants in NOTCH3 P Iruzubieta, CAPF Alves, AM Al Shamsi, G ElGhazali, MS Zaki, L Pinelli, ... EBioMedicine 107, 2024 | | 2024 |
| Diagnostic performance of exome sequencing on 18,995 patients with suspected rare genetic disorders SI Hyun, H Han, SW Ryu, K Kwon, R Khang, E Lee, J Kim, Y Song, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 636-637, 2024 | | 2024 |
| A variant prioritization tool leveraging multiple instance learning for rare Mendelian disease genomic testing HH Kim, JY Baek, H Han, WC Jeong, DW Kim, K Kwon, Y Song, H Lee, ... medRxiv, 2024.04. 18.24305632, 2024 | | 2024 |
| Developing a deep learning model to predict the breast implant texture types with ultrasonography image: feasibility study HH Kim, WC Jeong, K Pi, AS Lee, MS Kim, HJ Kim, JH Kim medRxiv, 2024.03. 18.24304460, 2024 | | 2024 |
| P660: Accelerating novel gene discovery utilizing a constraint-based method on exome sequencing data of 23,670 patients WC Jeong, K Kwon, SW Ryu, H Han, J Lee, GH Seo, H Lee Genetics in Medicine Open 1 (1), 2023 | | 2023 |
