Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation. Gilbert, M. A., Keefer-Jacques, E., Jadhav, T., Antfolk, D., Ming, Q., Valente, N., Shaw, G. T., Sottolano, C. J., Matwijec, G., Luca, V. C., Loomes, K. M., Rajagopalan, R., Hayeck, T. J., & Spinner, N. B. The American Journal of Human Genetics, July, 2024.
Paper doi bibtex @article{gilbert_functional_2024,
title = {Functional characterization of 2,832 {JAG1} variants supports reclassification for {Alagille} syndrome and improves guidance for clinical variant interpretation},
volume = {0},
issn = {0002-9297, 1537-6605},
url = {https://www.cell.com/ajhg/abstract/S0002-9297(24)00218-0},
doi = {10.1016/j.ajhg.2024.06.011},
language = {English},
number = {0},
urldate = {2024-07-24},
journal = {The American Journal of Human Genetics},
author = {Gilbert, Melissa A. and Keefer-Jacques, Ernest and Jadhav, Tanaya and Antfolk, Daniel and Ming, Qianqian and Valente, Nicolette and Shaw, Grace Tzun-Wen and Sottolano, Christopher J. and Matwijec, Grace and Luca, Vincent C. and Loomes, Kathleen M. and Rajagopalan, Ramakrishnan and Hayeck, Tristan J. and Spinner, Nancy B.},
month = jul,
year = {2024},
pmid = {39043182},
keywords = {ALGS, Alagille syndrome, Alamut, JAG1, MAVEs, NOTCH2, VOUS, genomic diagnostics, multiplexed assay of variant effects, variant classification, variant of uncertain significance},
}
Downloads: 0
{"_id":"faCMKtD5C7htzr7Pn","bibbaseid":"gilbert-keeferjacques-jadhav-antfolk-ming-valente-shaw-sottolano-etal-functionalcharacterizationof2832jag1variantssupportsreclassificationforalagillesyndromeandimprovesguidanceforclinicalvariantinterpretation-2024","author_short":["Gilbert, M. A.","Keefer-Jacques, E.","Jadhav, T.","Antfolk, D.","Ming, Q.","Valente, N.","Shaw, G. T.","Sottolano, C. J.","Matwijec, G.","Luca, V. C.","Loomes, K. M.","Rajagopalan, R.","Hayeck, T. J.","Spinner, N. B."],"bibdata":{"bibtype":"article","type":"article","title":"Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation","volume":"0","issn":"0002-9297, 1537-6605","url":"https://www.cell.com/ajhg/abstract/S0002-9297(24)00218-0","doi":"10.1016/j.ajhg.2024.06.011","language":"English","number":"0","urldate":"2024-07-24","journal":"The American Journal of Human Genetics","author":[{"propositions":[],"lastnames":["Gilbert"],"firstnames":["Melissa","A."],"suffixes":[]},{"propositions":[],"lastnames":["Keefer-Jacques"],"firstnames":["Ernest"],"suffixes":[]},{"propositions":[],"lastnames":["Jadhav"],"firstnames":["Tanaya"],"suffixes":[]},{"propositions":[],"lastnames":["Antfolk"],"firstnames":["Daniel"],"suffixes":[]},{"propositions":[],"lastnames":["Ming"],"firstnames":["Qianqian"],"suffixes":[]},{"propositions":[],"lastnames":["Valente"],"firstnames":["Nicolette"],"suffixes":[]},{"propositions":[],"lastnames":["Shaw"],"firstnames":["Grace","Tzun-Wen"],"suffixes":[]},{"propositions":[],"lastnames":["Sottolano"],"firstnames":["Christopher","J."],"suffixes":[]},{"propositions":[],"lastnames":["Matwijec"],"firstnames":["Grace"],"suffixes":[]},{"propositions":[],"lastnames":["Luca"],"firstnames":["Vincent","C."],"suffixes":[]},{"propositions":[],"lastnames":["Loomes"],"firstnames":["Kathleen","M."],"suffixes":[]},{"propositions":[],"lastnames":["Rajagopalan"],"firstnames":["Ramakrishnan"],"suffixes":[]},{"propositions":[],"lastnames":["Hayeck"],"firstnames":["Tristan","J."],"suffixes":[]},{"propositions":[],"lastnames":["Spinner"],"firstnames":["Nancy","B."],"suffixes":[]}],"month":"July","year":"2024","pmid":"39043182","keywords":"ALGS, Alagille syndrome, Alamut, JAG1, MAVEs, NOTCH2, VOUS, genomic diagnostics, multiplexed assay of variant effects, variant classification, variant of uncertain significance","bibtex":"@article{gilbert_functional_2024,\n\ttitle = {Functional characterization of 2,832 {JAG1} variants supports reclassification for {Alagille} syndrome and improves guidance for clinical variant interpretation},\n\tvolume = {0},\n\tissn = {0002-9297, 1537-6605},\n\turl = {https://www.cell.com/ajhg/abstract/S0002-9297(24)00218-0},\n\tdoi = {10.1016/j.ajhg.2024.06.011},\n\tlanguage = {English},\n\tnumber = {0},\n\turldate = {2024-07-24},\n\tjournal = {The American Journal of Human Genetics},\n\tauthor = {Gilbert, Melissa A. and Keefer-Jacques, Ernest and Jadhav, Tanaya and Antfolk, Daniel and Ming, Qianqian and Valente, Nicolette and Shaw, Grace Tzun-Wen and Sottolano, Christopher J. and Matwijec, Grace and Luca, Vincent C. and Loomes, Kathleen M. and Rajagopalan, Ramakrishnan and Hayeck, Tristan J. and Spinner, Nancy B.},\n\tmonth = jul,\n\tyear = {2024},\n\tpmid = {39043182},\n\tkeywords = {ALGS, Alagille syndrome, Alamut, JAG1, MAVEs, NOTCH2, VOUS, genomic diagnostics, multiplexed assay of variant effects, variant classification, variant of uncertain significance},\n}\n\n\n\n","author_short":["Gilbert, M. A.","Keefer-Jacques, E.","Jadhav, T.","Antfolk, D.","Ming, Q.","Valente, N.","Shaw, G. T.","Sottolano, C. J.","Matwijec, G.","Luca, V. C.","Loomes, K. M.","Rajagopalan, R.","Hayeck, T. J.","Spinner, N. B."],"key":"gilbert_functional_2024","id":"gilbert_functional_2024","bibbaseid":"gilbert-keeferjacques-jadhav-antfolk-ming-valente-shaw-sottolano-etal-functionalcharacterizationof2832jag1variantssupportsreclassificationforalagillesyndromeandimprovesguidanceforclinicalvariantinterpretation-2024","role":"author","urls":{"Paper":"https://www.cell.com/ajhg/abstract/S0002-9297(24)00218-0"},"keyword":["ALGS","Alagille syndrome","Alamut","JAG1","MAVEs","NOTCH2","VOUS","genomic diagnostics","multiplexed assay of variant effects","variant classification","variant of uncertain significance"],"metadata":{"authorlinks":{}}},"bibtype":"article","biburl":"https://bibbase.org/zotero/SOPHiAGENETICS","dataSources":["Pcpsxmwz8uxXtL843"],"keywords":["algs","alagille syndrome","alamut","jag1","maves","notch2","vous","genomic diagnostics","multiplexed assay of variant effects","variant classification","variant of uncertain significance"],"search_terms":["functional","characterization","832","jag1","variants","supports","reclassification","alagille","syndrome","improves","guidance","clinical","variant","interpretation","gilbert","keefer-jacques","jadhav","antfolk","ming","valente","shaw","sottolano","matwijec","luca","loomes","rajagopalan","hayeck","spinner"],"title":"Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation","year":2024}