{"id":"https://openalex.org/W7220945258","doi":"https://doi.org/10.64898/2026.10.05.26364218","title":"Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology","display_name":"Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology","publication_year":2026,"publication_date":"2026-10-07","ids":{"openalex":"https://openalex.org/W7220945258","doi":"https://doi.org/10.64898/2026.10.05.26364218","pmid":"https://pubmed.ncbi.nlm.nih.gov/42926617","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13692460"},"language":"en","primary_location":{"id":"doi:10.64898/2026.10.05.26364218","doi":"https://doi.org/10.64898/2026.10.05.26364218","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.10.05.26364218","pdf_url":null,"source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},"volume":null,"type":"preprint","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.64898/2026.10.05.26364218","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5022202880","display_name":"Mugdha Singh","orcid":"https://orcid.org/0000-0003-3536-5539","observed_orcids":["https://orcid.org/0000-0003-3536-5539"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mugdha Singh","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0003-3536-5539","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089806637","display_name":"Sarah L. Stenton","orcid":"https://orcid.org/0000-0003-4071-449X","observed_orcids":["https://orcid.org/0000-0003-4071-449X"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sarah L. Stenton","raw_affiliation_strings":["Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0003-4071-449X","affiliations":[{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013605681","display_name":"Emily Groopman","orcid":"https://orcid.org/0000-0001-8688-7551","observed_orcids":["https://orcid.org/0000-0001-8688-7551"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Emily Groopman","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0001-8688-7551","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054232066","display_name":"Moriel Singer\u2010Berk","orcid":"https://orcid.org/0000-0001-8148-0648","observed_orcids":["https://orcid.org/0000-0001-8148-0648"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Moriel Singer-Berk","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0001-8148-0648","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111142768","display_name":"Jialan Ma","orcid":"https://orcid.org/0009-0007-2670-9076","observed_orcids":["https://orcid.org/0009-0007-2670-9076"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jialan Ma","raw_affiliation_strings":["Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0009-0007-2670-9076","affiliations":[{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002180539","display_name":"Sanaa Choufani","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Sanaa Choufani","raw_affiliation_strings":["Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada"],"raw_orcid":"https://orcid.org/0000-0002-5241-2213","affiliations":[{"raw_affiliation_string":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079487203","display_name":"Emily O\u2019Heir","orcid":"https://orcid.org/0000-0001-7669-8239","observed_orcids":["https://orcid.org/0000-0001-7669-8239"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Emily O\u2019Heir","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0001-7669-8239","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011156751","display_name":"Stephanie P. DiTroia","orcid":"https://orcid.org/0000-0002-6847-6780","observed_orcids":["https://orcid.org/0000-0002-6847-6780"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stephanie DiTroia","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-6847-6780","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035638123","display_name":"Ikeoluwa Osei\u2010Owusu","orcid":"https://orcid.org/0000-0002-1429-3532","observed_orcids":["https://orcid.org/0000-0002-1429-3532"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ikeoluwa Osei-Owusu","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-1429-3532","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043491403","display_name":"Lynn S. Pais","orcid":"https://orcid.org/0000-0001-9673-4305","observed_orcids":["https://orcid.org/0000-0001-9673-4305"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lynn Pais","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0001-9673-4305","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047299973","display_name":"Gabrielle Lemire","orcid":"https://orcid.org/0000-0002-2834-6973","observed_orcids":["https://orcid.org/0000-0002-2834-6973"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gabrielle Lemire","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-2834-6973","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051080139","display_name":"Melanie O\u2019Leary","orcid":"https://orcid.org/0000-0002-8718-4759","observed_orcids":["https://orcid.org/0000-0002-8718-4759"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Melanie O\u2019Leary","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-8718-4759","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086656119","display_name":"Christina Anne Austin-Tse","orcid":"https://orcid.org/0000-0001-6492-6716","observed_orcids":["https://orcid.org/0000-0001-6492-6716"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christina Austin-Tse","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0001-6492-6716","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091462883","display_name":"Casie A. Genetti","orcid":"https://orcid.org/0000-0003-4173-9947","observed_orcids":["https://orcid.org/0000-0003-4173-9947"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Casie A. Genetti","raw_affiliation_strings":["Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0003-4173-9947","affiliations":[{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089682996","display_name":"Katherine N. Anderson","orcid":"https://orcid.org/0009-0001-1542-0492","observed_orcids":["https://orcid.org/0009-0001-1542-0492"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Katherine N. Anderson","raw_affiliation_strings":["Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA"],"raw_orcid":"https://orcid.org/0009-0001-1542-0492","affiliations":[{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000401192","display_name":"Monica Hsiung Wojcik","orcid":"https://orcid.org/0000-0002-8162-5031","observed_orcids":["https://orcid.org/0000-0002-8162-5031"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Monica H. Wojcik","raw_affiliation_strings":["Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Division of Newborn Medicine, Department of Medicine, Boston Children\u2019s Hospital, Boston, MA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-8162-5031","affiliations":[{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Division of Newborn Medicine, Department of Medicine, Boston Children\u2019s Hospital, Boston, MA","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056568766","display_name":"Alan H. Beggs","orcid":"https://orcid.org/0000-0001-8818-0568","observed_orcids":["https://orcid.org/0000-0001-8818-0568"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alan H. Beggs","raw_affiliation_strings":["Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0001-8818-0568","affiliations":[{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030966822","display_name":"Jennifer N. Partlow","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jennifer E. Neil","raw_affiliation_strings":["Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Howard Hughes Medical Institute, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Howard Hughes Medical Institute, Boston, MA, USA","institution_ids":["https://openalex.org/I1344073410"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091565411","display_name":"Abbe Lai","orcid":"https://orcid.org/0000-0003-4496-1359","observed_orcids":["https://orcid.org/0000-0003-4496-1359"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Abbe Lai","raw_affiliation_strings":["Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA"],"raw_orcid":"https://orcid.org/0000-0003-4496-1359","affiliations":[{"raw_affiliation_string":"Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009957197","display_name":"Christopher A. Walsh","orcid":"https://orcid.org/0000-0002-0156-2238","observed_orcids":["https://orcid.org/0000-0002-0156-2238","https://orcid.org/0000-0001-8867-4322"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christopher A. Walsh","raw_affiliation_strings":["Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Howard Hughes Medical Institute, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-0156-2238","affiliations":[{"raw_affiliation_string":"Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Howard Hughes Medical Institute, Boston, MA, USA","institution_ids":["https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066506292","display_name":"Julie A. Jurgens","orcid":"https://orcid.org/0000-0003-4822-9384","observed_orcids":["https://orcid.org/0000-0003-4822-9384"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Julie A. Jurgens","raw_affiliation_strings":["Department of Neurology, Boston Children\u2019s Hospital and Harvard Medical School, Boston, MA, USA","F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0003-4822-9384","affiliations":[{"raw_affiliation_string":"Department of Neurology, Boston Children\u2019s Hospital and Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]},{"raw_affiliation_string":"F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067720089","display_name":"Brenda J. Barry","orcid":"https://orcid.org/0000-0003-4358-8126","observed_orcids":["https://orcid.org/0000-0003-4358-8126"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brenda J. Barry","raw_affiliation_strings":["Department of Neurology, Boston Children\u2019s Hospital and Harvard Medical School, Boston, MA, USA","Howard Hughes Medical Institute, Boston, MA, USA"],"raw_orcid":"https://orcid.org/0000-0003-4358-8126","affiliations":[{"raw_affiliation_string":"Department of Neurology, Boston Children\u2019s Hospital and Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Howard Hughes Medical Institute, Boston, MA, USA","institution_ids":["https://openalex.org/I1344073410"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061112728","display_name":"Elizabeth C. Engle","orcid":"https://orcid.org/0000-0001-8194-7738","observed_orcids":["https://orcid.org/0000-0001-8194-7738","https://orcid.org/0000-0003-0760-4491"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Elizabeth C. Engle","raw_affiliation_strings":["Department of Neurology, Boston Children\u2019s Hospital and Harvard Medical School, Boston, MA, USA","Department of Ophthalmology, Boston Children\u2019s Hospital and Harvard Medical School, Boston, MA, USA","Howard Hughes Medical Institute, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0001-8194-7738","affiliations":[{"raw_affiliation_string":"Department of Neurology, Boston Children\u2019s Hospital and Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Ophthalmology, Boston Children\u2019s Hospital and Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Howard Hughes Medical Institute, Boston, MA, USA","institution_ids":["https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031647104","display_name":"Sandra C. Donkervoort","orcid":"https://orcid.org/0000-0001-6399-1444","observed_orcids":["https://orcid.org/0000-0001-6399-1444"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sandra Donkervoort","raw_affiliation_strings":["Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"],"raw_orcid":"https://orcid.org/0000-0001-6399-1444","affiliations":[{"raw_affiliation_string":"Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059907230","display_name":"Carsten G. B\u00f6nnemann","orcid":"https://orcid.org/0000-0002-5930-2324","observed_orcids":["https://orcid.org/0000-0002-5930-2324"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carsten G. B\u00f6nnemann","raw_affiliation_strings":["Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"],"raw_orcid":"https://orcid.org/0000-0002-5930-2324","affiliations":[{"raw_affiliation_string":"Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038946411","display_name":"Emanuela Argilli","orcid":"https://orcid.org/0000-0002-6575-7501","observed_orcids":["https://orcid.org/0000-0002-6575-7501"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Emanuela Argilli","raw_affiliation_strings":["Department of Neurology, University of California, San Francisco, CA, USA"],"raw_orcid":"https://orcid.org/0000-0002-6575-7501","affiliations":[{"raw_affiliation_string":"Department of Neurology, University of California, San Francisco, CA, USA","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110867135","display_name":"Elliott H. Sherr","orcid":"https://orcid.org/0009-0008-8696-2716","observed_orcids":["https://orcid.org/0009-0008-8696-2716"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Elliott H. Sherr","raw_affiliation_strings":["Department of Neurology, University of California, San Francisco, CA, USA"],"raw_orcid":"https://orcid.org/0009-0008-8696-2716","affiliations":[{"raw_affiliation_string":"Department of Neurology, University of California, San Francisco, CA, USA","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052694333","display_name":"Patricia Kipkemoi","orcid":"https://orcid.org/0000-0003-4622-0749","observed_orcids":["https://orcid.org/0000-0003-4622-0749"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I2841861","display_name":"Kenya Medical Research Institute","ror":"https://ror.org/04r1cxt79","country_code":"KE","type":"facility","lineage":["https://openalex.org/I2841861"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4210108070","display_name":"Aga Khan University Nairobi","ror":"https://ror.org/01zv98a09","country_code":"KE","type":"education","lineage":["https://openalex.org/I118185606","https://openalex.org/I4210108070","https://openalex.org/I4210114929"]},{"id":"https://openalex.org/I4405267625","display_name":"KEMRI-Wellcome Trust Research Programme","ror":"https://ror.org/03my81p15","country_code":"KE","type":"facility","lineage":["https://openalex.org/I2841861","https://openalex.org/I40120149","https://openalex.org/I4405267625","https://openalex.org/I87048295"]}],"countries":["KE","US"],"is_corresponding":false,"raw_author_name":"Patricia Kipkemoi","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Institute of Human Development, Aga Khan University, Nairobi, Kenya","Neuroscience Unit, KEMRI-Wellcome Trust, Center for Geographic Medicine Research Coast, Kilifi, Kenya"],"raw_orcid":"https://orcid.org/0000-0003-4622-0749","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Institute of Human Development, Aga Khan University, Nairobi, Kenya","institution_ids":["https://openalex.org/I4210108070"]},{"raw_affiliation_string":"Neuroscience Unit, KEMRI-Wellcome Trust, Center for Geographic Medicine Research Coast, Kilifi, Kenya","institution_ids":["https://openalex.org/I2841861","https://openalex.org/I4405267625"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015763840","display_name":"Zandr\u00e8 Bruwer","orcid":"https://orcid.org/0000-0002-6594-2512","observed_orcids":["https://orcid.org/0000-0002-6594-2512"]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4210157117","display_name":"Red Cross War Memorial Children's Hospital","ror":"https://ror.org/04d6eav07","country_code":"ZA","type":"healthcare","lineage":["https://openalex.org/I1307091933","https://openalex.org/I4210157117"]}],"countries":["ZA"],"is_corresponding":false,"raw_author_name":"Zandre Bruwer","raw_affiliation_strings":["Department of Pediatrics and Child Health, Red Cross War Memorial Children\u2019s Hospital, University of Cape Town, Rondebosch, South Africa"],"raw_orcid":"https://orcid.org/0000-0002-6594-2512","affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Child Health, Red Cross War Memorial Children\u2019s Hospital, University of Cape Town, Rondebosch, South Africa","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4210157117"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080582354","display_name":"Kirsten Ann Donald","orcid":"https://orcid.org/0000-0002-0276-9660","observed_orcids":["https://orcid.org/0000-0002-0276-9660"]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I2802258008","display_name":"Groote Schuur Hospital","ror":"https://ror.org/00c879s84","country_code":"ZA","type":"healthcare","lineage":["https://openalex.org/I1307091933","https://openalex.org/I2802258008"]},{"id":"https://openalex.org/I4210157117","display_name":"Red Cross War Memorial Children's Hospital","ror":"https://ror.org/04d6eav07","country_code":"ZA","type":"healthcare","lineage":["https://openalex.org/I1307091933","https://openalex.org/I4210157117"]}],"countries":["ZA"],"is_corresponding":false,"raw_author_name":"Kirsten A. Donald","raw_affiliation_strings":["Department of Pediatrics and Child Health, Red Cross War Memorial Children\u2019s Hospital, University of Cape Town, Rondebosch, South Africa","Neuroscience Institute, University of Cape Town, Groote Schuur Hospital, Observatory, South Africa"],"raw_orcid":"https://orcid.org/0000-0002-0276-9660","affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Child Health, Red Cross War Memorial Children\u2019s Hospital, University of Cape Town, Rondebosch, South Africa","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4210157117"]},{"raw_affiliation_string":"Neuroscience Institute, University of Cape Town, Groote Schuur Hospital, Observatory, South Africa","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I2802258008"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023248855","display_name":"Volker W. Straub","orcid":"https://orcid.org/0000-0001-9046-3540","observed_orcids":["https://orcid.org/0000-0001-9046-3540"]},"institutions":[{"id":"https://openalex.org/I2801663869","display_name":"Newcastle upon Tyne Hospitals NHS Foundation Trust","ror":"https://ror.org/05p40t847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801663869"]},{"id":"https://openalex.org/I84884186","display_name":"Newcastle University","ror":"https://ror.org/01kj2bm70","country_code":"GB","type":"education","lineage":["https://openalex.org/I84884186"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Volker Straub","raw_affiliation_strings":["John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK"],"raw_orcid":"https://orcid.org/0000-0001-9046-3540","affiliations":[{"raw_affiliation_string":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK","institution_ids":["https://openalex.org/I2801663869","https://openalex.org/I84884186"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071166764","display_name":"Ana T\u00f6pf","orcid":"https://orcid.org/0000-0002-9227-2526","observed_orcids":["https://orcid.org/0000-0002-9227-2526"]},"institutions":[{"id":"https://openalex.org/I2801663869","display_name":"Newcastle upon Tyne Hospitals NHS Foundation Trust","ror":"https://ror.org/05p40t847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801663869"]},{"id":"https://openalex.org/I84884186","display_name":"Newcastle University","ror":"https://ror.org/01kj2bm70","country_code":"GB","type":"education","lineage":["https://openalex.org/I84884186"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Ana Topf","raw_affiliation_strings":["John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK"],"raw_orcid":"https://orcid.org/0000-0002-9227-2526","affiliations":[{"raw_affiliation_string":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK","institution_ids":["https://openalex.org/I2801663869","https://openalex.org/I84884186"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064122983","display_name":"Susan M. White","orcid":"https://orcid.org/0000-0001-7611-634X","observed_orcids":["https://orcid.org/0000-0001-7611-634X"]},"institutions":[{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Susan M. White","raw_affiliation_strings":["Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia","institution_ids":["https://openalex.org/I165779595","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049989599","display_name":"Tiong Yang Tan","orcid":"https://orcid.org/0000-0001-8455-7778","observed_orcids":["https://orcid.org/0000-0001-8455-7778"]},"institutions":[{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Tiong Yang Tan","raw_affiliation_strings":["Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia"],"raw_orcid":"https://orcid.org/0000-0001-8455-7778","affiliations":[{"raw_affiliation_string":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia","institution_ids":["https://openalex.org/I165779595","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067153616","display_name":"Lyndon Gallacher","orcid":"https://orcid.org/0000-0003-2245-9034","observed_orcids":["https://orcid.org/0000-0003-2245-9034"]},"institutions":[{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Lyndon Gallacher","raw_affiliation_strings":["Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia"],"raw_orcid":"https://orcid.org/0000-0003-2245-9034","affiliations":[{"raw_affiliation_string":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia","institution_ids":["https://openalex.org/I165779595","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079207509","display_name":"Peer Arts","orcid":"https://orcid.org/0000-0002-6742-6239","observed_orcids":["https://orcid.org/0000-0002-6742-6239"]},"institutions":[{"id":"https://openalex.org/I2800191616","display_name":"Maastricht University Medical Centre","ror":"https://ror.org/02d9ce178","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800191616"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Peers Arts","raw_affiliation_strings":["Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-6742-6239","affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, Netherlands","institution_ids":["https://openalex.org/I2800191616"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047498140","display_name":"Matilda R. Jackson","orcid":"https://orcid.org/0000-0001-7547-7653","observed_orcids":["https://orcid.org/0000-0001-7547-7653"]},"institutions":[{"id":"https://openalex.org/I107656453","display_name":"South Australia Pathology","ror":"https://ror.org/01kvtm035","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I107656453"]},{"id":"https://openalex.org/I4210140852","display_name":"Centre for Cancer Biology","ror":"https://ror.org/03yg7hz06","country_code":"AU","type":"facility","lineage":["https://openalex.org/I107656453","https://openalex.org/I4210140852","https://openalex.org/I4405259444"]},{"id":"https://openalex.org/I4405259444","display_name":"Adelaide University","ror":"https://ror.org/028g18b61","country_code":"AU","type":"education","lineage":["https://openalex.org/I4405259444"]},{"id":"https://openalex.org/I5681781","display_name":"The University of Adelaide","ror":"https://ror.org/00892tw58","country_code":"AU","type":"education","lineage":["https://openalex.org/I4405259444","https://openalex.org/I5681781"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Matilda R. Jackson","raw_affiliation_strings":["Centre for Cancer Biology, School of Pharmacy and Biomedical Sciences, College of Health, Adelaide University, Adelaide, SA, Australia","Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia"],"raw_orcid":"https://orcid.org/0000-0001-7547-7653","affiliations":[{"raw_affiliation_string":"Centre for Cancer Biology, School of Pharmacy and Biomedical Sciences, College of Health, Adelaide University, Adelaide, SA, Australia","institution_ids":["https://openalex.org/I4210140852","https://openalex.org/I4405259444","https://openalex.org/I5681781"]},{"raw_affiliation_string":"Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia","institution_ids":["https://openalex.org/I107656453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042538471","display_name":"Thuong Ha","orcid":"https://orcid.org/0000-0002-4408-2613","observed_orcids":["https://orcid.org/0000-0002-4408-2613"]},"institutions":[{"id":"https://openalex.org/I107656453","display_name":"South Australia Pathology","ror":"https://ror.org/01kvtm035","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I107656453"]},{"id":"https://openalex.org/I4210140852","display_name":"Centre for Cancer Biology","ror":"https://ror.org/03yg7hz06","country_code":"AU","type":"facility","lineage":["https://openalex.org/I107656453","https://openalex.org/I4210140852","https://openalex.org/I4405259444"]},{"id":"https://openalex.org/I4405259444","display_name":"Adelaide University","ror":"https://ror.org/028g18b61","country_code":"AU","type":"education","lineage":["https://openalex.org/I4405259444"]},{"id":"https://openalex.org/I5681781","display_name":"The University of Adelaide","ror":"https://ror.org/00892tw58","country_code":"AU","type":"education","lineage":["https://openalex.org/I4405259444","https://openalex.org/I5681781"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Thuong T. Ha","raw_affiliation_strings":["Centre for Cancer Biology, School of Pharmacy and Biomedical Sciences, College of Health, Adelaide University, Adelaide, SA, Australia","Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia"],"raw_orcid":"https://orcid.org/0000-0002-4408-2613","affiliations":[{"raw_affiliation_string":"Centre for Cancer Biology, School of Pharmacy and Biomedical Sciences, College of Health, Adelaide University, Adelaide, SA, Australia","institution_ids":["https://openalex.org/I4210140852","https://openalex.org/I4405259444","https://openalex.org/I5681781"]},{"raw_affiliation_string":"Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia","institution_ids":["https://openalex.org/I107656453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053194629","display_name":"Christopher Barnett","orcid":"https://orcid.org/0000-0003-1717-3824","observed_orcids":["https://orcid.org/0000-0003-1717-3824"]},"institutions":[{"id":"https://openalex.org/I2801308011","display_name":"Women's and Children's Hospital","ror":"https://ror.org/03kwrfk72","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801308011"]},{"id":"https://openalex.org/I4210100798","display_name":"Women's and Children's Health Network","ror":"https://ror.org/01e2ynf23","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210100798"]},{"id":"https://openalex.org/I5681781","display_name":"The University of Adelaide","ror":"https://ror.org/00892tw58","country_code":"AU","type":"education","lineage":["https://openalex.org/I4405259444","https://openalex.org/I5681781"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Christopher P. Barnett","raw_affiliation_strings":["Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia","Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women\u2019s and Children\u2019s Hospital, North Adelaide, SA, Australia"],"raw_orcid":"https://orcid.org/0000-0003-1717-3824","affiliations":[{"raw_affiliation_string":"Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia","institution_ids":["https://openalex.org/I5681781"]},{"raw_affiliation_string":"Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women\u2019s and Children\u2019s Hospital, North Adelaide, SA, Australia","institution_ids":["https://openalex.org/I2801308011","https://openalex.org/I4210100798"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027386293","display_name":"Alicia B. Byrne","orcid":"https://orcid.org/0000-0002-8141-1818","observed_orcids":["https://orcid.org/0000-0002-8141-1818"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alicia B. Byrne","raw_affiliation_strings":["Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-8141-1818","affiliations":[{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038779121","display_name":"Hamish S. Scott","orcid":"https://orcid.org/0000-0002-5813-631X","observed_orcids":["https://orcid.org/0000-0002-5813-631X"]},"institutions":[{"id":"https://openalex.org/I107656453","display_name":"South Australia Pathology","ror":"https://ror.org/01kvtm035","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I107656453"]},{"id":"https://openalex.org/I4210140852","display_name":"Centre for Cancer Biology","ror":"https://ror.org/03yg7hz06","country_code":"AU","type":"facility","lineage":["https://openalex.org/I107656453","https://openalex.org/I4210140852","https://openalex.org/I4405259444"]},{"id":"https://openalex.org/I4405259444","display_name":"Adelaide University","ror":"https://ror.org/028g18b61","country_code":"AU","type":"education","lineage":["https://openalex.org/I4405259444"]},{"id":"https://openalex.org/I5681781","display_name":"The University of Adelaide","ror":"https://ror.org/00892tw58","country_code":"AU","type":"education","lineage":["https://openalex.org/I4405259444","https://openalex.org/I5681781"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Hamish S. Scott","raw_affiliation_strings":["Centre for Cancer Biology, School of Pharmacy and Biomedical Sciences, College of Health, Adelaide University, Adelaide, SA, Australia","Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia"],"raw_orcid":"https://orcid.org/0000-0002-5813-631X","affiliations":[{"raw_affiliation_string":"Centre for Cancer Biology, School of Pharmacy and Biomedical Sciences, College of Health, Adelaide University, Adelaide, SA, Australia","institution_ids":["https://openalex.org/I4210140852","https://openalex.org/I4405259444","https://openalex.org/I5681781"]},{"raw_affiliation_string":"Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia","institution_ids":["https://openalex.org/I107656453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5092686282","display_name":"Vijay S Ganesh","orcid":"https://orcid.org/0000-0002-8709-9351","observed_orcids":["https://orcid.org/0000-0002-8709-9351"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I48633490","display_name":"Mass General Brigham","ror":"https://ror.org/04py2rh25","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Vijay S. Ganesh","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Department of Neurology, Mass General Brigham, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-8709-9351","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Department of Neurology, Mass General Brigham, Boston, MA, USA","institution_ids":["https://openalex.org/I48633490"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014144046","display_name":"Heidi L. Rehm","orcid":"https://orcid.org/0000-0002-6025-0015","observed_orcids":["https://orcid.org/0000-0002-6025-0015"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Heidi L. Rehm","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-6025-0015","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036444068","display_name":"Rosanna Weksberg","orcid":"https://orcid.org/0000-0002-6501-4150","observed_orcids":["https://orcid.org/0000-0002-6501-4150","https://orcid.org/0000-0003-2587-5893"]},"institutions":[{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Rosanna Weksberg","raw_affiliation_strings":["Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada"],"raw_orcid":"https://orcid.org/0000-0002-6501-4150","affiliations":[{"raw_affiliation_string":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090410236","display_name":"Anne O\u2019Donnell\u2010Luria","orcid":"https://orcid.org/0000-0001-6418-9592","observed_orcids":["https://orcid.org/0000-0001-6418-9592"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anne O\u2019Donnell-Luria","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0001-6418-9592","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5033177598","display_name":"Sanna Gudmundsson","orcid":"https://orcid.org/0000-0002-2332-074X","observed_orcids":["https://orcid.org/0000-0002-2332-074X"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["SE","US"],"is_corresponding":false,"raw_author_name":"Sanna Gudmundsson","raw_affiliation_strings":["Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden","Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden","Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-2332-074X","affiliations":[{"raw_affiliation_string":"Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835"]},{"raw_affiliation_string":"Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]},{"raw_affiliation_string":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]}],"institutions":[],"countries_distinct_count":8,"institutions_distinct_count":31,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/incomplete-penetrance","display_name":"incomplete penetrance","score":1.0},{"id":"https://openalex.org/keywords/rare-diseases","display_name":"rare diseases","score":0.7900000214576721},{"id":"https://openalex.org/keywords/chd8","display_name":"CHD8","score":0.949999988079071},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.7039999961853027},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.9279999732971191},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.6700000166893005},{"id":"https://openalex.org/keywords/diagnostic-yield","display_name":"diagnostic yield","score":0.5600000023841858},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.7059999704360962},{"id":"https://openalex.org/keywords/transcriptome","display_name":"transcriptome","score":0.6259999871253967},{"id":"https://openalex.org/keywords/transcriptional-regulatory-networks","display_name":"transcriptional regulatory networks","score":0.7260000109672546},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.3409999907016754}],"concepts":[{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.7843999862670898},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.7833999991416931},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7297999858856201},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7156999707221985},{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.6247000098228455},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6057000160217285},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5536999702453613},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.44609999656677246},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.42179998755455017},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.41440001130104065},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.3763999938964844},{"id":"https://openalex.org/C121912465","wikidata":"https://www.wikidata.org/wiki/Q3589153","display_name":"Epigenomics","level":5,"score":0.36970001459121704},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.36559998989105225},{"id":"https://openalex.org/C191791410","wikidata":"https://www.wikidata.org/wiki/Q241953","display_name":"OMIM : Online Mendelian Inheritance in Man","level":4,"score":0.36250001192092896},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.35499998927116394},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.35100001096725464},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.335099995136261},{"id":"https://openalex.org/C12387725","wikidata":"https://www.wikidata.org/wiki/Q937024","display_name":"Phenocopy","level":4,"score":0.3296999931335449},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.32120001316070557},{"id":"https://openalex.org/C117717151","wikidata":"https://www.wikidata.org/wiki/Q3589155","display_name":"Epigenome","level":5,"score":0.3149000108242035},{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.3095000088214874},{"id":"https://openalex.org/C2910714999","wikidata":"https://www.wikidata.org/wiki/Q1576681","display_name":"INDEL Mutation","level":5,"score":0.30390000343322754},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.2939000129699707},{"id":"https://openalex.org/C144621757","wikidata":"https://www.wikidata.org/wiki/Q3083720","display_name":"Missing heritability problem","level":5,"score":0.29330000281333923},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.2840999960899353},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.2831000089645386},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.2768999934196472},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.27459999918937683},{"id":"https://openalex.org/C2780902518","wikidata":"https://www.wikidata.org/wiki/Q6033780","display_name":"Inheritance (genetic algorithm)","level":3,"score":0.26739999651908875},{"id":"https://openalex.org/C161890455","wikidata":"https://www.wikidata.org/wiki/Q1503548","display_name":"Heritability","level":2,"score":0.2628999948501587},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.262800008058548},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.2590999901294708},{"id":"https://openalex.org/C157585117","wikidata":"https://www.wikidata.org/wiki/Q158666","display_name":"Omics","level":2,"score":0.257999986410141}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.64898/2026.10.05.26364218","doi":"https://doi.org/10.64898/2026.10.05.26364218","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.10.05.26364218","pdf_url":null,"source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},{"id":"pmid:42926617","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42926617","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"medRxiv : the preprint server for health sciences","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13692460","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13692460/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"medRxiv","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.64898/2026.10.05.26364218","doi":"https://doi.org/10.64898/2026.10.05.26364218","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.10.05.26364218","pdf_url":null,"source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":52,"referenced_works":["https://openalex.org/W1644197353","https://openalex.org/W2001992733","https://openalex.org/W2045227722","https://openalex.org/W2051686506","https://openalex.org/W2057619579","https://openalex.org/W2154944793","https://openalex.org/W2162151166","https://openalex.org/W2252255302","https://openalex.org/W2267376195","https://openalex.org/W2517075843","https://openalex.org/W2585888498","https://openalex.org/W2610440890","https://openalex.org/W2805193585","https://openalex.org/W2890773078","https://openalex.org/W2892127870","https://openalex.org/W2905379902","https://openalex.org/W2909194804","https://openalex.org/W2914482125","https://openalex.org/W2949982307","https://openalex.org/W2957019321","https://openalex.org/W2959658150","https://openalex.org/W3133859624","https://openalex.org/W3169380066","https://openalex.org/W3217006452","https://openalex.org/W4206956689","https://openalex.org/W4220814173","https://openalex.org/W4220849298","https://openalex.org/W4284881663","https://openalex.org/W4287218243","https://openalex.org/W4364366219","https://openalex.org/W4365138239","https://openalex.org/W4381716438","https://openalex.org/W4383302282","https://openalex.org/W4386171078","https://openalex.org/W4389728996","https://openalex.org/W4390893026","https://openalex.org/W4394924331","https://openalex.org/W4396222038","https://openalex.org/W4399189646","https://openalex.org/W4399352796","https://openalex.org/W4402481034","https://openalex.org/W4402764781","https://openalex.org/W4404566689","https://openalex.org/W4405965268","https://openalex.org/W4408185364","https://openalex.org/W4414345885","https://openalex.org/W4415363070","https://openalex.org/W4415482426","https://openalex.org/W4415737697","https://openalex.org/W4415765783","https://openalex.org/W7116771723","https://openalex.org/W7165748861"],"related_works":["https://openalex.org/W2995381955","https://openalex.org/W4324117380","https://openalex.org/W4412353541","https://openalex.org/W7214886273","https://openalex.org/W4417498203","https://openalex.org/W4386251031","https://openalex.org/W4402076173","https://openalex.org/W7165753528","https://openalex.org/W2996633770","https://openalex.org/W4415737697"],"abstract_inverted_index":{"Abstract":[0],"INTRODUCTION":[1],"Despite":[2],"major":[3],"advances":[4],"in":[5,55,90,99,127,160,175,181,215,222],"genomic":[6],"sequencing":[7],"and":[8,62,85,196,232],"analytical":[9],"pipelines":[10],"for":[11,69,147],"rare":[12,53,216],"disorders,":[13],"more":[14],"than":[15],"50%":[16],"of":[17,30,52,59,73,80,149,158,165,209,236],"affected":[18,60,109],"individuals":[19],"remain":[20],"without":[21],"a":[22,42,78,112,118,170,228],"molecular":[23],"diagnosis.":[24],"One":[25],"challenge":[26],"is":[27],"the":[28,50,66,74,108,150,161,166,176,182,194,207,234],"interpretation":[29],"inherited":[31,47,95,116,130,143,212,226],"variants":[32,48,145,214,225],"exhibiting":[33],"incomplete":[34],"penetrance":[35],"(IP).":[36],"MATERIALS":[37],"AND":[38],"METHODS":[39],"We":[40,103],"developed":[41],"pipeline":[43],"to":[44,240],"systematically":[45],"investigate":[46],"as":[49],"cause":[51],"disease":[54],"4,325":[56],"families,":[57],"consisting":[58],"probands":[61],"unaffected":[63,120,184,230],"parents,":[64],"from":[65,117,227],"Broad":[67],"Center":[68],"Mendelian":[70],"Genomics,":[71],"part":[72],"GREGoR":[75],"Consortium.":[76],"As":[77],"proof-of-concept":[79],"further":[81],"omics":[82,238],"follow-up,":[83],"epigenomic":[84],"transcriptomic":[86],"analyses":[87],"were":[88],"performed":[89],"one":[91],"family":[92,168],"harboring":[93],"an":[94,129,154],"disease-causing":[96,114],"frameshift":[97],"variant":[98,115,131,242],"CHD8":[100,167,172,192],".":[101],"RESULTS":[102],"identified":[104,124],"81":[105],"families":[106,126],"where":[107],"proband":[110,195],"harbored":[111],"putative":[113],"reportedly":[119,183,229],"parent.":[121],"Clinical":[122],"re-evaluation":[123],"30":[125],"which":[128],"was":[132],"considered":[133],"diagnostic,":[134],"including":[135],"six":[136],"previously":[137],"missed":[138],"diagnoses.":[139],"In":[140],"this":[141],"cohort,":[142],"IP":[144,213],"account":[146],"1.6%":[148],"diagnosed":[151],"cases,":[152],"with":[153,218],"overall":[155],"diagnostic":[156,224],"yield":[157],"0.4%":[159],"cohort.":[162],"Methylation":[163],"analysis":[164,187],"confirmed":[169],"positive":[171],"clinical":[173],"episignature":[174],"male":[177],"proband,":[178],"but":[179],"also":[180],"mother.":[185],"Transcriptomic":[186],"showed":[188],"that":[189],"despite":[190],"similar":[191],"haploinsufficiency,":[193],"mother":[197],"displayed":[198],"divergent":[199],"downstream":[200],"transcriptional":[201],"effects.":[202],"DISCUSSION":[203],"This":[204],"study":[205],"highlights":[206],"importance":[208],"considering":[210],"parentally":[211],"disease,":[217],"at":[219],"least":[220],"1":[221],"60":[223],"parent,":[231],"demonstrates":[233],"potential":[235],"integrating":[237],"evaluation":[239],"improve":[241],"interpretation.":[243]},"counts_by_year":[{"year":2026,"cited_by_count":2}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2026-10-09T00:00:00"}