{"doi":"10.1016/j.ajhg.2025.08.015","title":"Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder","abstract":null,"journal":"The American Journal of Human Genetics","year":2025,"id":574706,"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":0.9529,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1482391,"name":"Maayke A. de Koning","orcid":"0000-0003-0557-7530","position":1,"is_corresponding":false},{"id":362321,"name":"Kamal Khan","orcid":"0000-0002-8366-4237","position":2,"is_corresponding":false},{"id":802875,"name":"Kelly L. Gilmore","orcid":"0000-0002-9125-8714","position":3,"is_corresponding":false},{"id":243309,"name":"Mariëtte J.V. Hoffer","orcid":"0000-0002-1812-7670","position":4,"is_corresponding":false},{"id":349537,"name":"Georgios Kellaris","orcid":null,"position":5,"is_corresponding":false},{"id":1482392,"name":"Sophie Lanone","orcid":"0000-0003-2509-8799","position":6,"is_corresponding":false},{"id":1482393,"name":"Maylis Dagouassat","orcid":"0000-0002-0903-9505","position":7,"is_corresponding":false},{"id":804132,"name":"Farid Ullah","orcid":"0000-0001-8108-8347","position":8,"is_corresponding":false},{"id":1482756,"name":"P. N. Adama van Scheltema","orcid":null,"position":9,"is_corresponding":false},{"id":274394,"name":"Delphine Héron","orcid":"0000-0002-1627-7958","position":10,"is_corresponding":false},{"id":478887,"name":"Yline Capri","orcid":"0000-0002-6269-5966","position":11,"is_corresponding":false},{"id":372972,"name":"Alma Kuechler","orcid":null,"position":12,"is_corresponding":false},{"id":1482394,"name":"Bernd Schweiger","orcid":"0000-0002-8037-2159","position":13,"is_corresponding":false},{"id":703653,"name":"Monique C. Haak","orcid":"0000-0002-0443-1997","position":14,"is_corresponding":false},{"id":242574,"name":"Boris Keren","orcid":"0000-0001-6172-8247","position":15,"is_corresponding":false},{"id":325768,"name":"Frédéric Tran Mau‐Them","orcid":"0000-0002-3795-9456","position":16,"is_corresponding":false},{"id":670860,"name":"Cacha Peeters‐Scholte","orcid":"0000-0002-3982-6868","position":17,"is_corresponding":false},{"id":673355,"name":"Frank J. Kaiser","orcid":null,"position":18,"is_corresponding":false},{"id":1482395,"name":"Tamara T. Koopmann","orcid":"0000-0001-7918-6634","position":19,"is_corresponding":false},{"id":15035,"name":"Hailiang Mei","orcid":"0000-0003-1781-5508","position":20,"is_corresponding":false},{"id":490088,"name":"Binnaz Yalcin","orcid":"0000-0002-1924-6807","position":21,"is_corresponding":false},{"id":323120,"name":"Christel Depienne","orcid":"0000-0002-7212-9554","position":22,"is_corresponding":false},{"id":557101,"name":"Neeta L. Vora","orcid":"0000-0002-2504-9455","position":23,"is_corresponding":false},{"id":243317,"name":"Gijs W.E. Santen","orcid":"0000-0003-1959-3267","position":24,"is_corresponding":false},{"id":15088,"name":"Erica E. Davis","orcid":"0000-0002-2412-8397","position":25,"is_corresponding":false},{"id":1482390,"name":"Hammad Yousaf","orcid":"0009-0006-1538-2883","position":0,"is_corresponding":true}],"reference_count":83,"raw_metadata":null,"created_at":"2026-07-19T02:57:44.572630Z","pmid":"40930097","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":[]}