{"doi":"10.31219/osf.io/24gm3","title":"Insufficient Evidence for “Autism-Specific” Genes","abstract":"Despite the evidence that deleterious variants in the same genes are implicated across multiple neurodevelopmental disorders, there has been considerable interest in identifying genes that, when mutated, confer risk that is largely specific for autism spectrum disorder (ASD). Here, we review recent efforts to identify “autism-specific” genes, which focus on rare variants of large effect size that are thought to account for the observed phenotype in participants, present a divergent interpretation of the published evidence, and provide additional contradictory data. There is currently insufficient evidence to establish ASD-specificity of any genes based on large-effect rare variant data.","journal":"OSF Preprints (OSF Preprints)","year":2020,"id":124360,"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":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9467,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":253990,"name":"Thomas D. Challman","orcid":"0000-0002-2906-0635","position":1,"is_corresponding":false},{"id":253991,"name":"Raphael Bernier","orcid":"0000-0003-1854-2804","position":2,"is_corresponding":false},{"id":253992,"name":"Thomas Bourgeron","orcid":"0000-0001-8164-9220","position":3,"is_corresponding":false},{"id":23578,"name":"Wendy K. Chung","orcid":"0000-0003-3438-5685","position":4,"is_corresponding":false},{"id":253993,"name":"John N. Constantino","orcid":"0000-0001-8888-4186","position":5,"is_corresponding":false},{"id":2125,"name":"Evan E. Eichler","orcid":"0000-0002-8246-4014","position":6,"is_corresponding":false},{"id":33852,"name":"Sébastien Jacquemont","orcid":"0000-0001-6838-8767","position":7,"is_corresponding":false},{"id":253994,"name":"David T. Miller","orcid":"0000-0003-1060-1945","position":8,"is_corresponding":false},{"id":183548,"name":"Kevin J. Mitchell","orcid":"0000-0002-3433-4530","position":9,"is_corresponding":false},{"id":24573,"name":"Huda Y. Zoghbi","orcid":"0000-0002-0700-3349","position":10,"is_corresponding":false},{"id":32976,"name":"Christa Lese Martin","orcid":"0000-0002-8071-5780","position":11,"is_corresponding":false},{"id":32967,"name":"David H. Ledbetter","orcid":"0000-0001-8934-4210","position":12,"is_corresponding":false},{"id":253989,"name":"Scott M. Myers","orcid":"0000-0001-7614-6338","position":0,"is_corresponding":true}],"reference_count":51,"raw_metadata":null,"created_at":"2026-07-18T23:15:07.789881Z","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":[]}