{"doi":"10.1016/j.clinbiochem.2022.02.004","title":"A novel JAG1 frameshift variant causing Alagille syndrome with incomplete penetrance","abstract":null,"journal":"Clinical Biochemistry","year":2022,"id":604975,"datarank":0.3357665374108991,"base_score":1.791759469228055,"endowment":1.791759469228055,"self_citation_contribution":0.26876392038420827,"citation_network_contribution":0.06700261702669086,"self_endowment_contribution":0.26876392038420827,"citer_contribution":0.06700261702669086,"corpus_percentile":null,"corpus_rank":null,"citation_count":5,"citer_count":4,"citers_with_citation_signal":3,"citers_with_endowment":3,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1173611,"name":"Hao Wang","orcid":"0000-0002-3484-299X","position":1,"is_corresponding":false},{"id":588297,"name":"Yang Yang","orcid":"0000-0001-8572-5155","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"A novel JAG1 frameshift variant causing Alagille syndrome with incomplete penetrance","abstract":"<h4>Objective</h4>We report a novel frameshift variant of JAG1 in the prenatal setting, associated with Alagille syndrome1 with incomplete penetrance in a Chinese family.<h4>Case report</h4>A pregnant woman was referred to our center due to fetal cardiovascular abnormality. Whole exome sequencing was employed for this family. A novel heterozygous maternal-origin frameshift variant c.1794_1797del in JAG1 was identified in the fetus. The mother and the fetus had the identical variant, but they demonstrated different clinical manifestations. The fetus was diagnosed with Alagille syndrome 1.<h4>Conclusion</h4>A novel frameshift variant in JAG1 was detected in a fetus diagnosed with Alagille syndrome 1, and it showed incomplete penetrance in the family.","is_dataset_classified":null,"base_score":1.6094379124341003,"endowment":1.6094379124341003,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"35151641","pmcid":null,"openalex_id":"https://openalex.org/W4210986571","authors":[],"funders":[],"total_grants":0,"fwci":0.8402,"citation_percentile":0.69872192,"influential_citations":0,"citation_trend":[{"year":2022,"count":2},{"year":2023,"count":1},{"year":2025,"count":1}],"oa_status":"closed","license":"https://www.elsevier.com/legal/tdmrep-license","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S0009912022000522?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0009912022000522?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.clinbiochem.2022.02.004","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/35151641","host_type":"repository"}],"fields_of_study":["Pediatric Hepatobiliary Diseases and Treatments","Gallbladder and Bile Duct Disorders","Congenital Ear and Nasal Anomalies"],"mesh_terms":["Jagged-1 Protein","Calcium-Binding Proteins","Female","Heterozygote","Humans","Alagille Syndrome","Penetrance","Asian People"],"keywords":["Frameshift mutation","Penetrance","JAG1","Alagille syndrome","Fetus","Medicine","Exome sequencing","Genetics","Mutation","Internal medicine","Biology","Pregnancy","Phenotype","Notch signaling pathway","Cholestasis","Prenatal diagnosis","Whole Exome Sequencing"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-30T01:18:14.988467Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}