Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools
Keefer-Jacques, Ernest, Valente, Nicolette, Jacko, Anastasia M., Matwijec, Grace, Reese, Apsara, Tekriwal, Aarna, Loomes, Kathleen M., Spinner, Nancy B., Gilbert, Melissa A.
Published in HGG advances (10.10.2024)
Published in HGG advances (10.10.2024)
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Journal Article
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation
Gilbert, Melissa A., Keefer-Jacques, Ernest, Jadhav, Tanaya, Antfolk, Daniel, Ming, Qianqian, Valente, Nicolette, Shaw, Grace Tzun-Wen, Sottolano, Christopher J., Matwijec, Grace, Luca, Vincent C., Loomes, Kathleen M., Rajagopalan, Ramakrishnan, Hayeck, Tristan J., Spinner, Nancy B.
Published in American journal of human genetics (08.08.2024)
Published in American journal of human genetics (08.08.2024)
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Journal Article