{"doi":"10.1530/ey.19.1.6","title":"High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency","abstract":"Brief Summary: This study reports splice-disruptive variants in POU1F1 in 4 families with hypopituitarism and uses a high-throughput splicing reporter assay to create a comprehensive catalogue of such variants in or near exon 2 of the gene. The catalogue paves the way for identifying synonymous but splice-disruptive POU1F1 variants in additional patients with hypopituitarism, which underscores the importance of evaluating defective splicing as a disease mechanism.","journal":"Yearbook of pediatric endocrinology","year":2022,"id":311450,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9373,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1008066,"name":"C Smith","orcid":null,"position":1,"is_corresponding":false},{"id":1008067,"name":"H Bando","orcid":null,"position":2,"is_corresponding":false},{"id":1008068,"name":"Jorge AAL","orcid":null,"position":3,"is_corresponding":false},{"id":1008069,"name":"D Rockstroh-Lippold","orcid":null,"position":4,"is_corresponding":false},{"id":1008070,"name":"Vishnopolska SA","orcid":null,"position":5,"is_corresponding":false},{"id":1008071,"name":"F Castinetti","orcid":null,"position":6,"is_corresponding":false},{"id":1008072,"name":"M Maksutova","orcid":null,"position":7,"is_corresponding":false},{"id":1008073,"name":"Carvalho LRS","orcid":null,"position":8,"is_corresponding":false},{"id":1008074,"name":"J Hoppmann","orcid":null,"position":9,"is_corresponding":false},{"id":1008075,"name":"J Martinez Mayer","orcid":null,"position":10,"is_corresponding":false},{"id":1008076,"name":"F Albarel","orcid":null,"position":11,"is_corresponding":false},{"id":1008077,"name":"D Braslavsky","orcid":null,"position":12,"is_corresponding":false},{"id":1008078,"name":"A Keselman","orcid":null,"position":13,"is_corresponding":false},{"id":1008079,"name":"I Bergada","orcid":null,"position":14,"is_corresponding":false},{"id":1008080,"name":"Marti MA","orcid":null,"position":15,"is_corresponding":false},{"id":1008081,"name":"A Saveanu","orcid":null,"position":16,"is_corresponding":false},{"id":1008082,"name":"A Barlier","orcid":null,"position":17,"is_corresponding":false},{"id":1008083,"name":"R Abou Jamra","orcid":null,"position":18,"is_corresponding":false},{"id":1008084,"name":"Guo MH","orcid":null,"position":19,"is_corresponding":false},{"id":1008085,"name":"A Dauber","orcid":null,"position":20,"is_corresponding":false},{"id":1008086,"name":"M Nakaguma","orcid":null,"position":21,"is_corresponding":false},{"id":1008087,"name":"Mendonca BB","orcid":null,"position":22,"is_corresponding":false},{"id":1008088,"name":"Jayakody SN","orcid":null,"position":23,"is_corresponding":false},{"id":1008089,"name":"Ozel AB","orcid":null,"position":24,"is_corresponding":false},{"id":1008090,"name":"Q Fang","orcid":null,"position":25,"is_corresponding":false},{"id":1007670,"name":"Qiang Ma","orcid":"0000-0002-2249-7180","position":26,"is_corresponding":false},{"id":1008091,"name":"Li JZ","orcid":null,"position":27,"is_corresponding":false},{"id":1008092,"name":"T Brue","orcid":null,"position":28,"is_corresponding":false},{"id":1008093,"name":"MI Perez Millan","orcid":null,"position":29,"is_corresponding":false},{"id":1008094,"name":"Arnhold IJP","orcid":null,"position":30,"is_corresponding":false},{"id":1008095,"name":"R Pfaeffle","orcid":null,"position":31,"is_corresponding":false},{"id":1008096,"name":"Kitzman JO","orcid":null,"position":32,"is_corresponding":false},{"id":543280,"name":"Camper SA","orcid":null,"position":33,"is_corresponding":false},{"id":1008065,"name":"P Gergics","orcid":null,"position":0,"is_corresponding":true}],"reference_count":71,"raw_metadata":null,"created_at":"2026-07-19T00:33:28.480200Z","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":[]}