{"id":"https://openalex.org/W4403052269","doi":"https://doi.org/10.1371/journal.pcbi.1012449","title":"Quantitative evaluation of DNA damage repair dynamics to elucidate predictors of autism vs. cancer in individuals with germline PTEN variants","display_name":"Quantitative evaluation of DNA damage repair dynamics to elucidate predictors of autism vs. cancer in individuals with germline PTEN variants","publication_year":2024,"publication_date":"2024-10-02","ids":{"openalex":"https://openalex.org/W4403052269","doi":"https://doi.org/10.1371/journal.pcbi.1012449","pmid":"https://pubmed.ncbi.nlm.nih.gov/39356721"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1012449","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1012449","pdf_url":null,"source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1371/journal.pcbi.1012449","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5011614495","display_name":"Ruipeng Wei","orcid":"https://orcid.org/0000-0002-6056-222X"},"institutions":[{"id":"https://openalex.org/I36373038","display_name":"Cleveland Clinic Lerner College of Medicine","ror":"https://ror.org/02x4b0932","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750","https://openalex.org/I36373038"]},{"id":"https://openalex.org/I58956616","display_name":"Case Western Reserve University","ror":"https://ror.org/051fd9666","country_code":"US","type":"education","lineage":["https://openalex.org/I58956616"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ruipeng Wei","raw_affiliation_strings":["Department of Nutrition and Systems Biology and Bioinformatics Program, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States of America","Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America"],"raw_orcid":"https://orcid.org/0000-0002-6056-222X","affiliations":[{"raw_affiliation_string":"Department of Nutrition and Systems Biology and Bioinformatics Program, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I58956616"]},{"raw_affiliation_string":"Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I36373038"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013023933","display_name":"Masahiro Hitomi","orcid":"https://orcid.org/0000-0002-0937-6640"},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]},{"id":"https://openalex.org/I36373038","display_name":"Cleveland Clinic Lerner College of Medicine","ror":"https://ror.org/02x4b0932","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750","https://openalex.org/I36373038"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Masahiro Hitomi","raw_affiliation_strings":["Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America","Translational Hematology & Oncology Research, Cleveland Clinic, Cleveland, Ohio, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I36373038"]},{"raw_affiliation_string":"Translational Hematology & Oncology Research, Cleveland Clinic, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I1316902750"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113524648","display_name":"Tammy Sadler","orcid":null},"institutions":[{"id":"https://openalex.org/I36373038","display_name":"Cleveland Clinic Lerner College of Medicine","ror":"https://ror.org/02x4b0932","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750","https://openalex.org/I36373038"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tammy Sadler","raw_affiliation_strings":["Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I36373038"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024393574","display_name":"Lamis Yehia","orcid":"https://orcid.org/0000-0002-6389-3059"},"institutions":[{"id":"https://openalex.org/I36373038","display_name":"Cleveland Clinic Lerner College of Medicine","ror":"https://ror.org/02x4b0932","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750","https://openalex.org/I36373038"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lamis Yehia","raw_affiliation_strings":["Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I36373038"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090411877","display_name":"Daniela Calvetti","orcid":"https://orcid.org/0000-0001-5696-718X"},"institutions":[{"id":"https://openalex.org/I58956616","display_name":"Case Western Reserve University","ror":"https://ror.org/051fd9666","country_code":"US","type":"education","lineage":["https://openalex.org/I58956616"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Daniela Calvetti","raw_affiliation_strings":["Department of Mathematics, Applied Mathematics, and Statistics, Case Western Reserve University College of Arts and Sciences, Cleveland, Ohio, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Mathematics, Applied Mathematics, and Statistics, Case Western Reserve University College of Arts and Sciences, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I58956616"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024863178","display_name":"Jacob G. Scott","orcid":"https://orcid.org/0000-0003-2971-7673"},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]},{"id":"https://openalex.org/I36373038","display_name":"Cleveland Clinic Lerner College of Medicine","ror":"https://ror.org/02x4b0932","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750","https://openalex.org/I36373038"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jacob Scott","raw_affiliation_strings":["Department of Radiation Oncology, Cleveland Clinic, Cleveland, Ohio, United States of America","Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America","Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, United States of America","Translational Hematology & Oncology Research, Cleveland Clinic, Cleveland, Ohio, United States of America"],"raw_orcid":"https://orcid.org/0000-0003-2971-7673","affiliations":[{"raw_affiliation_string":"Department of Radiation Oncology, Cleveland Clinic, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I1316902750"]},{"raw_affiliation_string":"Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I36373038"]},{"raw_affiliation_string":"Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I1316902750"]},{"raw_affiliation_string":"Translational Hematology & Oncology Research, Cleveland Clinic, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I1316902750"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5038322204","display_name":"Charis Eng","orcid":"https://orcid.org/0000-0002-3693-5145"},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]},{"id":"https://openalex.org/I36373038","display_name":"Cleveland Clinic Lerner College of Medicine","ror":"https://ror.org/02x4b0932","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750","https://openalex.org/I36373038"]},{"id":"https://openalex.org/I4210153792","display_name":"University School","ror":"https://ror.org/05ap66461","country_code":"US","type":"education","lineage":["https://openalex.org/I4210153792"]},{"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"]},{"id":"https://openalex.org/I58956616","display_name":"Case Western Reserve University","ror":"https://ror.org/051fd9666","country_code":"US","type":"education","lineage":["https://openalex.org/I58956616"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charis Eng","raw_affiliation_strings":["Center for Personalized Genetic Healthcare, Medical Specialties Institute, Cleveland Clinic, United States of America","Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States of America","Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America","Germline High Risk Cancer Focus Group, Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio, United States of America","Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Personalized Genetic Healthcare, Medical Specialties Institute, Cleveland Clinic, United States of America","institution_ids":["https://openalex.org/I48633490"]},{"raw_affiliation_string":"Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I58956616","https://openalex.org/I4210153792"]},{"raw_affiliation_string":"Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I36373038"]},{"raw_affiliation_string":"Germline High Risk Cancer Focus Group, Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I58956616"]},{"raw_affiliation_string":"Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, United States of America","institution_ids":["https://openalex.org/I1316902750"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":0.9987,"has_fulltext":true,"cited_by_count":5,"citation_normalized_percentile":{"value":0.75745561,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":96,"max":99},"biblio":{"volume":"20","issue":"10","first_page":"e1012449","last_page":"e1012449"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10952","display_name":"PI3K/AKT/mTOR signaling in cancer","score":0.9993000030517578,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10952","display_name":"PI3K/AKT/mTOR signaling in cancer","score":0.9993000030517578,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11827","display_name":"Polyomavirus and related diseases","score":0.9954000115394592,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10434","display_name":"Chromosomal and Genetic Variations","score":0.9835000038146973,"subfield":{"id":"https://openalex.org/subfields/1110","display_name":"Plant Science"},"field":{"id":"https://openalex.org/fields/11","display_name":"Agricultural and Biological Sciences"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/pten","display_name":"PTEN","score":0.968313455581665},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.6174259185791016},{"id":"https://openalex.org/keywords/dna-damage","display_name":"DNA damage","score":0.5629349946975708},{"id":"https://openalex.org/keywords/dna-repair","display_name":"DNA repair","score":0.561486005783081},{"id":"https://openalex.org/keywords/tensin","display_name":"Tensin","score":0.5503206253051758},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"Haploinsufficiency","score":0.5393329858779907},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.5161615014076233},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4878864288330078},{"id":"https://openalex.org/keywords/cancer-research","display_name":"Cancer research","score":0.4356918931007385},{"id":"https://openalex.org/keywords/genome-instability","display_name":"Genome instability","score":0.43002066016197205},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.20212265849113464},{"id":"https://openalex.org/keywords/dna","display_name":"DNA","score":0.16381752490997314},{"id":"https://openalex.org/keywords/pi3k/akt/mtor-pathway","display_name":"PI3K/AKT/mTOR pathway","score":0.12070101499557495}],"concepts":[{"id":"https://openalex.org/C2777609662","wikidata":"https://www.wikidata.org/wiki/Q416356","display_name":"PTEN","level":4,"score":0.968313455581665},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6174259185791016},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.5629349946975708},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.561486005783081},{"id":"https://openalex.org/C2779549131","wikidata":"https://www.wikidata.org/wiki/Q83167294","display_name":"Tensin","level":5,"score":0.5503206253051758},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.5393329858779907},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5161615014076233},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4878864288330078},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.4356918931007385},{"id":"https://openalex.org/C178169997","wikidata":"https://www.wikidata.org/wiki/Q2892636","display_name":"Genome instability","level":4,"score":0.43002066016197205},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.20212265849113464},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.16381752490997314},{"id":"https://openalex.org/C86554907","wikidata":"https://www.wikidata.org/wiki/Q285613","display_name":"PI3K/AKT/mTOR pathway","level":3,"score":0.12070101499557495},{"id":"https://openalex.org/C190283241","wikidata":"https://www.wikidata.org/wiki/Q14599311","display_name":"Apoptosis","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004249","descriptor_name":"DNA Damage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004249","descriptor_name":"DNA Damage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004249","descriptor_name":"DNA Damage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004249","descriptor_name":"DNA Damage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004249","descriptor_name":"DNA Damage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004260","descriptor_name":"DNA Repair","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004260","descriptor_name":"DNA Repair","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004260","descriptor_name":"DNA Repair","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004260","descriptor_name":"DNA Repair","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004260","descriptor_name":"DNA Repair","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006223","descriptor_name":"Hamartoma Syndrome, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006223","descriptor_name":"Hamartoma Syndrome, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006223","descriptor_name":"Hamartoma Syndrome, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006223","descriptor_name":"Hamartoma Syndrome, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006223","descriptor_name":"Hamartoma Syndrome, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051059","descriptor_name":"PTEN Phosphohydrolase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051059","descriptor_name":"PTEN Phosphohydrolase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051059","descriptor_name":"PTEN Phosphohydrolase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051059","descriptor_name":"PTEN Phosphohydrolase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051059","descriptor_name":"PTEN Phosphohydrolase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1371/journal.pcbi.1012449","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1012449","pdf_url":null,"source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},{"id":"pmid:39356721","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39356721","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,"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":"PLoS computational biology","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:11472915","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11472915","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11472915/pdf/pcbi.1012449.pdf","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,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Comput Biol","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:652ccd01f3dc4f68bb21458d416b56b6","is_oa":false,"landing_page_url":"https://doaj.org/article/652ccd01f3dc4f68bb21458d416b56b6","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Computational Biology, Vol 20, Iss 10, p e1012449 (2024)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1012449","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1012449","pdf_url":null,"source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8100000023841858,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"awards":[{"id":"https://openalex.org/G3833797083","display_name":null,"funder_award_id":"R01 HD105049","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320306260","display_name":"Breast Cancer Research Foundation","ror":"https://ror.org/0348ff195"},{"id":"https://openalex.org/F4320306434","display_name":"Ambrose Monell Foundation","ror":"https://ror.org/022nw7x84"},{"id":"https://openalex.org/F4320309680","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83"},{"id":"https://openalex.org/F4320310281","display_name":"Case Western Reserve University","ror":"https://ror.org/051fd9666"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W191977981","https://openalex.org/W1992101827","https://openalex.org/W1997649361","https://openalex.org/W1998038367","https://openalex.org/W2021714239","https://openalex.org/W2022159597","https://openalex.org/W2033526699","https://openalex.org/W2053486980","https://openalex.org/W2071086325","https://openalex.org/W2075350584","https://openalex.org/W2095674520","https://openalex.org/W2099624904","https://openalex.org/W2102837197","https://openalex.org/W2114725617","https://openalex.org/W2119100786","https://openalex.org/W2121186684","https://openalex.org/W2123669082","https://openalex.org/W2130504509","https://openalex.org/W2130661390","https://openalex.org/W2152558985","https://openalex.org/W2152988906","https://openalex.org/W2166775075","https://openalex.org/W2183570771","https://openalex.org/W2195828217","https://openalex.org/W2276351974","https://openalex.org/W2754301172","https://openalex.org/W2794480084","https://openalex.org/W2796208126","https://openalex.org/W2803826431","https://openalex.org/W2949911367","https://openalex.org/W2951779355","https://openalex.org/W3003713687","https://openalex.org/W3005737355"],"related_works":["https://openalex.org/W2352568601","https://openalex.org/W2374272643","https://openalex.org/W2186965932","https://openalex.org/W2046077454","https://openalex.org/W4390452441","https://openalex.org/W2357679775","https://openalex.org/W2059248219","https://openalex.org/W1964912188","https://openalex.org/W4298172496","https://openalex.org/W2407165303"],"abstract_inverted_index":{"Persons":[0],"with":[1,17,39,131,204,234,265,313,338],"germline":[2],"variants":[3,201],"in":[4,89,129,186,212,276],"the":[5,35,63,69,77,80,86,94,97,109,124,154,177,191,253,273,277,287,292],"tumor":[6,20],"suppressor":[7],"gene":[8],"phosphatase":[9],"and":[10,30,133,138,158,340],"tensin":[11],"homolog,":[12],"PTEN,":[13,114],"are":[14,37,202],"molecularly":[15],"diagnosed":[16,38],"PTEN":[18,159,199,224],"hamartoma":[19],"syndrome":[21,78,87],"(PHTS).":[22],"PHTS":[23,61,132,146,228,232,296],"confers":[24],"high":[25],"risks":[26],"of":[27,34,51,73,76,85,96,100,103,108,113,169,171,193,286,302],"specific":[28,74],"malignancies,":[29],"up":[31],"to":[32,93,122,134,136,152,182,223,270,334],"23%":[33],"patients":[36,245],"autism":[40],"spectrum":[41],"disorder":[42],"(ASD)":[43],"and/or":[44,161],"developmental":[45],"delay":[46],"(DD).":[47],"The":[48,83,167],"accurate":[49],"prediction":[50],"these":[52],"two":[53,303],"seemingly":[54],"disparate":[55],"phenotypes":[56,75,137,163],"(cancer":[57],"vs.":[58,165],"ASD/DD)":[59],"for":[60],"at":[62,79,217,318,328],"individual":[64],"level":[65,322,327,332],"remains":[66],"elusive":[67],"despite":[68],"available":[70],"statistical":[71],"prevalence":[72],"population":[81],"level.":[82],"pleiotropy":[84],"may,":[88],"part,":[90],"be":[91],"due":[92],"alterations":[95],"key":[98,110],"multi-functions":[99],"PTEN.":[101],"Maintenance":[102],"genome":[104],"integrity":[105],"is":[106,311],"one":[107],"biological":[111],"functions":[112],"but":[115,323],"no":[116],"integrative":[117],"studies":[118],"have":[119],"been":[120],"conducted":[121],"quantify":[123],"DNA":[125,194,207,214,238,267,320,330],"damage":[126,208,215,239,268,321,331],"response":[127],"(DDR)":[128],"individuals":[130,233,337],"relate":[135],"genotypes.":[139],"In":[140],"this":[141],"study,":[142],"we":[143,282,290,307],"used":[144],"43":[145],"patient-derived":[147],"lymphoblastoid":[148],"cell":[149,262,316,325],"lines":[150],"(LCLs)":[151],"investigate":[153],"associations":[155],"between":[156],"DDR":[157,170,274],"genotypes":[160],"clinical":[162],"ASD/DD":[164,235,247],"cancer.":[166,249],"dynamics":[168],"\u03b3-irradiated":[172],"LCLs":[173,230,335],"were":[174],"analyzed":[175],"using":[176],"exponential":[178],"decay":[179],"mathematical":[180,259],"model":[181,264],"fit":[183],"temporal":[184],"changes":[185],"\u03b3H2AX":[187],"levels":[188,216],"which":[189],"report":[190],"degree":[192],"damage.":[195],"We":[196,250],"found":[197,308],"that":[198,309],"nonsense":[200],"associated":[203,312],"less":[205],"efficient":[206],"repair":[209],"ability":[210],"resulting":[211],"higher":[213,314,329],"24":[218],"hours":[219],"after":[220],"irradiation":[221],"compared":[222,333],"missense":[225],"variants.":[226],"Regarding":[227],"phenotypes,":[229],"from":[231,244,336],"showed":[236],"faster":[237],"repairing":[240],"rate":[241],"than":[242],"those":[243],"without":[246],"or":[248],"also":[251],"applied":[252],"reaction-diffusion":[254],"partial":[255],"differential":[256],"equation":[257],"(PDE)":[258],"model,":[260],"a":[261,266],"growth":[263],"term,":[269],"accurately":[271],"describe":[272],"process":[275],"LCLs.":[278],"For":[279],"each":[280],"LCL,":[281],"can":[283],"derive":[284],"parameters":[285],"PDE.":[288],"Then":[289],"averaged":[291],"numerical":[293],"results":[294],"by":[295],"phenotypes.":[297],"By":[298],"performing":[299],"simple":[300],"subtraction":[301],"subgroup":[304],"average":[305],"results,":[306],"PHTS-ASD/DD":[310],"live":[315],"density":[317,326],"lower":[319,324],"PHTS-cancer":[339],"PHTS-neither.":[341]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":3}],"updated_date":"2026-06-24T13:16:06.693445","created_date":"2025-10-10T00:00:00"}
