{"id":"https://openalex.org/W3128917149","doi":"https://doi.org/10.1038/s41598-021-81015-y","title":"Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan","display_name":"Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan","publication_year":2021,"publication_date":"2021-02-11","ids":{"openalex":"https://openalex.org/W3128917149","doi":"https://doi.org/10.1038/s41598-021-81015-y","mag":"3128917149","pmid":"https://pubmed.ncbi.nlm.nih.gov/33574353","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/7878886"},"language":"en","primary_location":{"id":"doi:10.1038/s41598-021-81015-y","doi":"https://doi.org/10.1038/s41598-021-81015-y","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41598-021-81015-y","pdf_url":"https://www.nature.com/articles/s41598-021-81015-y.pdf","source":{"id":"https://openalex.org/S196734849","display_name":"Scientific Reports","issn_l":"2045-2322","issn":["2045-2322"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scientific Reports","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.nature.com/articles/s41598-021-81015-y.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5055197296","display_name":"Nana Akiyama","orcid":"https://orcid.org/0000-0003-4610-0755","observed_orcids":["https://orcid.org/0000-0003-4610-0755"]},"institutions":[{"id":"https://openalex.org/I22299242","display_name":"Kyoto University","ror":"https://ror.org/02kpeqv85","country_code":"JP","type":"education","lineage":["https://openalex.org/I22299242"]},{"id":"https://openalex.org/I4405253373","display_name":"Chiba Children's Hospital","ror":"https://ror.org/00khjyb83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405253373"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Nana Akiyama","raw_affiliation_strings":["Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan","Department of Medical Genetics/Medical Ethics, Kyoto University School of Public Health, Kyoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan","institution_ids":["https://openalex.org/I4405253373"]},{"raw_affiliation_string":"Department of Medical Genetics/Medical Ethics, Kyoto University School of Public Health, Kyoto, Japan","institution_ids":["https://openalex.org/I22299242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002703388","display_name":"Masaru Shimura","orcid":"https://orcid.org/0000-0002-1998-7349","observed_orcids":["https://orcid.org/0000-0002-1998-7349"]},"institutions":[{"id":"https://openalex.org/I4405253373","display_name":"Chiba Children's Hospital","ror":"https://ror.org/00khjyb83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405253373"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Masaru Shimura","raw_affiliation_strings":["Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan","Department of Metabolism, Chiba Children\u2019s Hospital, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan","institution_ids":["https://openalex.org/I4405253373"]},{"raw_affiliation_string":"Department of Metabolism, Chiba Children\u2019s Hospital, Chiba, Japan","institution_ids":["https://openalex.org/I4405253373"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002884422","display_name":"Taro Yamazaki","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I8588240","display_name":"Saitama Medical University","ror":"https://ror.org/04zb31v77","country_code":"JP","type":"education","lineage":["https://openalex.org/I8588240"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Taro Yamazaki","raw_affiliation_strings":["Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan","institution_ids":["https://openalex.org/I8588240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032959750","display_name":"Hiroko Harashima","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I8588240","display_name":"Saitama Medical University","ror":"https://ror.org/04zb31v77","country_code":"JP","type":"education","lineage":["https://openalex.org/I8588240"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hiroko Harashima","raw_affiliation_strings":["Department of Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan","Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan","institution_ids":["https://openalex.org/I8588240"]},{"raw_affiliation_string":"Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan","institution_ids":["https://openalex.org/I8588240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022411794","display_name":"Takuya Fushimi","orcid":"https://orcid.org/0000-0002-6346-4975","observed_orcids":["https://orcid.org/0000-0002-6346-4975"]},"institutions":[{"id":"https://openalex.org/I4405253373","display_name":"Chiba Children's Hospital","ror":"https://ror.org/00khjyb83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405253373"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takuya Fushimi","raw_affiliation_strings":["Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan","Department of Metabolism, Chiba Children\u2019s Hospital, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan","institution_ids":["https://openalex.org/I4405253373"]},{"raw_affiliation_string":"Department of Metabolism, Chiba Children\u2019s Hospital, Chiba, Japan","institution_ids":["https://openalex.org/I4405253373"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048715590","display_name":"Tomoko Tsuruoka","orcid":"https://orcid.org/0000-0002-1987-4133","observed_orcids":["https://orcid.org/0000-0002-1987-4133"]},"institutions":[{"id":"https://openalex.org/I4405253373","display_name":"Chiba Children's Hospital","ror":"https://ror.org/00khjyb83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405253373"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tomoko Tsuruoka","raw_affiliation_strings":["Department of Neonatology, Chiba Children's Hospital, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neonatology, Chiba Children's Hospital, Chiba, Japan","institution_ids":["https://openalex.org/I4405253373"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069545622","display_name":"Tomohiro Ebihara","orcid":"https://orcid.org/0000-0003-2296-5527","observed_orcids":["https://orcid.org/0000-0003-2296-5527"]},"institutions":[{"id":"https://openalex.org/I4405253373","display_name":"Chiba Children's Hospital","ror":"https://ror.org/00khjyb83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405253373"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tomohiro Ebihara","raw_affiliation_strings":["Department of Neonatology, Chiba Children's Hospital, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neonatology, Chiba Children's Hospital, Chiba, Japan","institution_ids":["https://openalex.org/I4405253373"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028399123","display_name":"Keiko Ichimoto","orcid":"https://orcid.org/0000-0002-7152-6240","observed_orcids":["https://orcid.org/0000-0002-7152-6240"]},"institutions":[{"id":"https://openalex.org/I4405253373","display_name":"Chiba Children's Hospital","ror":"https://ror.org/00khjyb83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405253373"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Keiko Ichimoto","raw_affiliation_strings":["Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan","Department of Metabolism, Chiba Children\u2019s Hospital, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan","institution_ids":["https://openalex.org/I4405253373"]},{"raw_affiliation_string":"Department of Metabolism, Chiba Children\u2019s Hospital, Chiba, Japan","institution_ids":["https://openalex.org/I4405253373"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000592050","display_name":"Ayako Matsunaga","orcid":"https://orcid.org/0000-0003-3316-8400","observed_orcids":["https://orcid.org/0000-0003-3316-8400"]},"institutions":[{"id":"https://openalex.org/I4405253373","display_name":"Chiba Children's Hospital","ror":"https://ror.org/00khjyb83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405253373"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Ayako Matsunaga","raw_affiliation_strings":["Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan","Department of Metabolism, Chiba Children\u2019s Hospital, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan","institution_ids":["https://openalex.org/I4405253373"]},{"raw_affiliation_string":"Department of Metabolism, Chiba Children\u2019s Hospital, Chiba, Japan","institution_ids":["https://openalex.org/I4405253373"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054493745","display_name":"Megumi Saito-Tsuruoka","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210121151","display_name":"Saitama Medical University Hospital","ror":"https://ror.org/02tyjnv32","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210121151"]},{"id":"https://openalex.org/I8588240","display_name":"Saitama Medical University","ror":"https://ror.org/04zb31v77","country_code":"JP","type":"education","lineage":["https://openalex.org/I8588240"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Megumi Saito-Tsuruoka","raw_affiliation_strings":["Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan","Department of Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan","institution_ids":["https://openalex.org/I4210121151","https://openalex.org/I8588240"]},{"raw_affiliation_string":"Department of Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan","institution_ids":["https://openalex.org/I8588240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002538656","display_name":"Yukiko Yatsuka","orcid":"https://orcid.org/0000-0003-3137-6919","observed_orcids":["https://orcid.org/0000-0003-3137-6919"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yukiko Yatsuka","raw_affiliation_strings":["Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033325636","display_name":"Yoshihito Kishita","orcid":"https://orcid.org/0000-0003-4978-1680","observed_orcids":["https://orcid.org/0000-0003-4978-1680"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]},{"id":"https://openalex.org/I916559398","display_name":"Kindai University","ror":"https://ror.org/05kt9ap64","country_code":"JP","type":"education","lineage":["https://openalex.org/I916559398"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshihito Kishita","raw_affiliation_strings":["Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan","Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan","institution_ids":["https://openalex.org/I916559398"]},{"raw_affiliation_string":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044882895","display_name":"Masakazu Kohda","orcid":"https://orcid.org/0000-0001-5970-2224","observed_orcids":["https://orcid.org/0000-0001-5970-2224"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Masakazu Kohda","raw_affiliation_strings":["Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021974131","display_name":"Akira Namba","orcid":"https://orcid.org/0000-0001-6092-3104","observed_orcids":["https://orcid.org/0000-0001-6092-3104"]},"institutions":[{"id":"https://openalex.org/I4210121151","display_name":"Saitama Medical University Hospital","ror":"https://ror.org/02tyjnv32","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210121151"]},{"id":"https://openalex.org/I8588240","display_name":"Saitama Medical University","ror":"https://ror.org/04zb31v77","country_code":"JP","type":"education","lineage":["https://openalex.org/I8588240"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Akira Namba","raw_affiliation_strings":["Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan","Department of Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan","Department of Obstetrics and Gynecology, Saitama Medical University Hospital, Saitama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan","institution_ids":["https://openalex.org/I4210121151","https://openalex.org/I8588240"]},{"raw_affiliation_string":"Department of Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan","institution_ids":["https://openalex.org/I8588240"]},{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Saitama Medical University Hospital, Saitama, Japan","institution_ids":["https://openalex.org/I4210121151","https://openalex.org/I8588240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068692654","display_name":"Yoshimasa Kamei","orcid":"https://orcid.org/0000-0002-8389-6310","observed_orcids":["https://orcid.org/0000-0002-8389-6310"]},"institutions":[{"id":"https://openalex.org/I4210121151","display_name":"Saitama Medical University Hospital","ror":"https://ror.org/02tyjnv32","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210121151"]},{"id":"https://openalex.org/I8588240","display_name":"Saitama Medical University","ror":"https://ror.org/04zb31v77","country_code":"JP","type":"education","lineage":["https://openalex.org/I8588240"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshimasa Kamei","raw_affiliation_strings":["Department of Obstetrics and Gynecology, Saitama Medical University Hospital, Saitama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Saitama Medical University Hospital, Saitama, Japan","institution_ids":["https://openalex.org/I4210121151","https://openalex.org/I8588240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068173878","display_name":"Yasushi Okazaki","orcid":"https://orcid.org/0000-0003-3241-5502","observed_orcids":["https://orcid.org/0000-0003-3241-5502"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yasushi Okazaki","raw_affiliation_strings":["Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068471821","display_name":"Shinji Kosugi","orcid":"https://orcid.org/0000-0001-6036-6491","observed_orcids":["https://orcid.org/0000-0001-6036-6491"]},"institutions":[{"id":"https://openalex.org/I22299242","display_name":"Kyoto University","ror":"https://ror.org/02kpeqv85","country_code":"JP","type":"education","lineage":["https://openalex.org/I22299242"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Shinji Kosugi","raw_affiliation_strings":["Department of Medical Genetics/Medical Ethics, Kyoto University School of Public Health, Kyoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics/Medical Ethics, Kyoto University School of Public Health, Kyoto, Japan","institution_ids":["https://openalex.org/I22299242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028322843","display_name":"Akira Ohtake","orcid":"https://orcid.org/0000-0003-1147-3113","observed_orcids":["https://orcid.org/0000-0003-1147-3113"]},"institutions":[{"id":"https://openalex.org/I4210121151","display_name":"Saitama Medical University Hospital","ror":"https://ror.org/02tyjnv32","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210121151"]},{"id":"https://openalex.org/I8588240","display_name":"Saitama Medical University","ror":"https://ror.org/04zb31v77","country_code":"JP","type":"education","lineage":["https://openalex.org/I8588240"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Akira Ohtake","raw_affiliation_strings":["Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan. akira_oh@saitama-med.ac.jp","Department of Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan. akira_oh@saitama-med.ac.jp","Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan. akira_oh@saitama-med.ac.jp","Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan","Department of Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan","Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan. akira_oh@saitama-med.ac.jp","institution_ids":["https://openalex.org/I4210121151","https://openalex.org/I8588240"]},{"raw_affiliation_string":"Department of Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan. akira_oh@saitama-med.ac.jp","institution_ids":["https://openalex.org/I8588240"]},{"raw_affiliation_string":"Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan. akira_oh@saitama-med.ac.jp","institution_ids":["https://openalex.org/I8588240"]},{"raw_affiliation_string":"Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan","institution_ids":["https://openalex.org/I4210121151","https://openalex.org/I8588240"]},{"raw_affiliation_string":"Department of Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan","institution_ids":["https://openalex.org/I8588240"]},{"raw_affiliation_string":"Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan","institution_ids":["https://openalex.org/I8588240"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5083957581","display_name":"Kei Murayama","orcid":"https://orcid.org/0000-0002-3923-8636","observed_orcids":["https://orcid.org/0000-0002-3923-8636"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]},{"id":"https://openalex.org/I4405253373","display_name":"Chiba Children's Hospital","ror":"https://ror.org/00khjyb83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405253373"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Kei Murayama","raw_affiliation_strings":["Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan. kmuraya@mri.biglobe.ne.jp","Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan. kmuraya@mri.biglobe.ne.jp","Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan. kmuraya@mri.biglobe.ne.jp","Center for Medical Genetics, Chiba Children\u2019s Hospital, Chiba, Japan","Department of Metabolism, Chiba Children\u2019s Hospital, Chiba, Japan","Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan. kmuraya@mri.biglobe.ne.jp","institution_ids":["https://openalex.org/I4405253373"]},{"raw_affiliation_string":"Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan. kmuraya@mri.biglobe.ne.jp","institution_ids":["https://openalex.org/I4405253373"]},{"raw_affiliation_string":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan. kmuraya@mri.biglobe.ne.jp","institution_ids":["https://openalex.org/I34077901"]},{"raw_affiliation_string":"Center for Medical Genetics, Chiba Children\u2019s Hospital, Chiba, Japan","institution_ids":["https://openalex.org/I4405253373"]},{"raw_affiliation_string":"Department of Metabolism, Chiba Children\u2019s Hospital, Chiba, Japan","institution_ids":["https://openalex.org/I4405253373"]},{"raw_affiliation_string":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan","institution_ids":["https://openalex.org/I34077901"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5028322843","https://openalex.org/A5083957581"],"corresponding_institution_ids":["https://openalex.org/I34077901","https://openalex.org/I4210121151","https://openalex.org/I4405253373","https://openalex.org/I8588240"],"apc_list":{"value":1990,"currency":"USD","value_usd":1990},"apc_paid":{"value":1990,"currency":"USD","value_usd":1990},"fwci":0.9066,"has_fulltext":true,"cited_by_count":6,"citation_normalized_percentile":{"value":0.70479683,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"11","issue":"1","first_page":"3531","last_page":"3531"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.7143999934196472,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.7143999934196472,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.1200999990105629,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.07479999959468842,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.8629999756813049},{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"mitochondrial disease","score":0.8100000023841858},{"id":"https://openalex.org/keywords/mitochondrial-dna","display_name":"mitochondrial DNA","score":0.4580000042915344},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.7490000128746033},{"id":"https://openalex.org/keywords/hemizygosity","display_name":"hemizygosity","score":0.796999990940094},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.6470000147819519},{"id":"https://openalex.org/keywords/abortion","display_name":"abortion","score":0.8610000014305115}],"concepts":[{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.8465734124183655},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.8005586266517639},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.7418398857116699},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.7375214695930481},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.6548421382904053},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6045386791229248},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.5090393424034119},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.47203007340431213},{"id":"https://openalex.org/C115960442","wikidata":"https://www.wikidata.org/wiki/Q769863","display_name":"Nuclear DNA","level":4,"score":0.46617817878723145},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.46247661113739014},{"id":"https://openalex.org/C20750100","wikidata":"https://www.wikidata.org/wiki/Q7068120","display_name":"Nuclear gene","level":4,"score":0.44387632608413696},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.38227546215057373},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.37348344922065735},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.34521931409835815},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.34338992834091187},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.33359459042549133},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.28046005964279175},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.23049986362457275},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.20481351017951965},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.15822362899780273}],"mesh":[{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005817","descriptor_name":"Genetic Counseling","qualifier_ui":"Q000639","qualifier_name":"trends","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000639","qualifier_name":"trends","is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012720","descriptor_name":"Severity of Illness Index","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017630","descriptor_name":"Connexins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D028361","descriptor_name":"Mitochondrial Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D028361","descriptor_name":"Mitochondrial Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D028361","descriptor_name":"Mitochondrial Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1038/s41598-021-81015-y","doi":"https://doi.org/10.1038/s41598-021-81015-y","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41598-021-81015-y","pdf_url":"https://www.nature.com/articles/s41598-021-81015-y.pdf","source":{"id":"https://openalex.org/S196734849","display_name":"Scientific Reports","issn_l":"2045-2322","issn":["2045-2322"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scientific Reports","raw_type":"journal-article"},{"id":"doi:10.21203/rs.3.rs-93961/v1","doi":"https://doi.org/10.21203/rs.3.rs-93961/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-93961/v1","pdf_url":"https://www.researchsquare.com/article/rs-93961/v1.pdf?c=1603727185000","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"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":"Research Square","raw_type":"posted-content"},{"id":"pmid:33574353","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/33574353","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":"Scientific reports","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7878886","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC7878886/","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":"Sci Rep","raw_type":"Text"},{"id":"pmh:oai:irdb.nii.ac.jp:01221:0005693031","doi":null,"is_oa":true,"landing_page_url":"https://repository.kulib.kyoto-u.ac.jp/bitstreams/9c82f27c-bb14-41eb-8436-552f73b973a7/download","pdf_url":"https://repository.kulib.kyoto-u.ac.jp/bitstreams/9c82f27c-bb14-41eb-8436-552f73b973a7/download","source":{"id":"https://openalex.org/S7407056385","display_name":"Institutional Repositories DataBase (IRDB)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I184597095","host_organization_name":"National Institute of Informatics","host_organization_lineage":["https://openalex.org/I184597095"],"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":"Scientific Reports","raw_type":"journal article"},{"id":"pmh:oai:doaj.org/article:155589ae842344c1bf48522b1d15cb79","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/155589ae842344c1bf48522b1d15cb79","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,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)","raw_type":"article"},{"id":"pmh:oai:repository.kulib.kyoto-u.ac.jp:2433/279238","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/2433/279238","pdf_url":null,"source":{"id":"https://openalex.org/S4306401454","display_name":"Kyoto University Research Information Repository (Kyoto University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I22299242","host_organization_name":"Kyoto University","host_organization_lineage":["https://openalex.org/I22299242"],"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":"","raw_type":"journal article"}],"best_oa_location":{"id":"doi:10.1038/s41598-021-81015-y","doi":"https://doi.org/10.1038/s41598-021-81015-y","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41598-021-81015-y","pdf_url":"https://www.nature.com/articles/s41598-021-81015-y.pdf","source":{"id":"https://openalex.org/S196734849","display_name":"Scientific Reports","issn_l":"2045-2322","issn":["2045-2322"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scientific Reports","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G2310516177","display_name":"\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u8a3a\u7642\u30de\u30cb\u30e5\u30a2\u30eb\u306e\u6539\u5b9a\u3092\u898b\u636e\u3048\u305f\u3001\u8a3a\u7642\u306b\u76f4\u7d50\u3055\u305b\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u30fb\u5404\u81e8\u5e8a\u75c5\u578b\u306e\u30a8\u30d3\u30c7\u30f3\u30b9\u5275\u51fa\u7814\u7a76","funder_award_id":"19ek0109273h0003","funder_id":"https://openalex.org/F4320311405","funder_display_name":"Japan Agency for Medical Research and Development"},{"id":"https://openalex.org/G522273387","display_name":"Examination of validity, usefulness, ethical and social issues of human gene tests for implementation of genomic medicinel","funder_award_id":"18K07411","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G7266463376","display_name":"Anamysis of Hypoxic-ischemic Encephalopathy in commn marmosets.","funder_award_id":"19K08305","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G7782458297","display_name":null,"funder_award_id":"JP20ek0109468","funder_id":"https://openalex.org/F4320311405","funder_display_name":"Japan Agency for Medical Research and Development"}],"funders":[{"id":"https://openalex.org/F4320311405","display_name":"Japan Agency for Medical Research and Development","ror":"https://ror.org/004rtk039"},{"id":"https://openalex.org/F4320320912","display_name":"Ministry of Education, Culture, Sports, Science and Technology","ror":"https://ror.org/048rj2z13"},{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3128917149.pdf","grobid_xml":"https://content.openalex.org/works/W3128917149.grobid-xml"},"referenced_works_count":23,"referenced_works":["https://openalex.org/W1968408636","https://openalex.org/W2020947215","https://openalex.org/W2054789602","https://openalex.org/W2056033901","https://openalex.org/W2059746374","https://openalex.org/W2060497377","https://openalex.org/W2069735263","https://openalex.org/W2085962754","https://openalex.org/W2097270551","https://openalex.org/W2145215757","https://openalex.org/W2163172128","https://openalex.org/W2166664098","https://openalex.org/W2175880398","https://openalex.org/W2231655718","https://openalex.org/W2235263492","https://openalex.org/W2404209150","https://openalex.org/W2478684749","https://openalex.org/W2481274390","https://openalex.org/W2778642641","https://openalex.org/W2806806250","https://openalex.org/W2810216201","https://openalex.org/W2901475186","https://openalex.org/W3044244048"],"related_works":["https://openalex.org/W2163172128","https://openalex.org/W7220972750","https://openalex.org/W6923661355","https://openalex.org/W2600879214","https://openalex.org/W2261174072","https://openalex.org/W58022441","https://openalex.org/W3032794934","https://openalex.org/W3111795601","https://openalex.org/W1993942394","https://openalex.org/W2946358060"],"abstract_inverted_index":{"Prenatal":[0],"diagnoses":[1],"of":[2,32,36,57,80],"mitochondrial":[3,13,37,126],"diseases":[4,38,127,137],"caused":[5,39],"by":[6,40],"defects":[7,42],"in":[8,18,43],"nuclear":[9],"DNA":[10,14],"(nDNA)":[11],"or":[12,74,100,124],"have":[15],"been":[16],"reported":[17],"several":[19],"countries":[20],"except":[21],"for":[22,141,156],"Japan.":[23,44],"The":[24],"present":[25],"study":[26],"aimed":[27],"to":[28,51,112,119,133],"clarify":[29],"the":[30,81,85,105,114,121],"status":[31],"prenatal":[33,65,142,149],"genetic":[34,146],"diagnosis":[35,143],"nDNA":[41],"A":[45],"comprehensive":[46],"genomic":[47],"analysis":[48],"was":[49],"performed":[50],"diagnose":[52],"more":[53],"than":[54],"400":[55],"patients,":[56],"which,":[58],"13":[59],"families":[60,110],"(16":[61],"cases)":[62],"had":[63],"requested":[64],"diagnoses.":[66],"Eight":[67],"cases":[68,93],"diagnosed":[69,95],"with":[70,96,144],"wild":[71],"type":[72],"homozygous":[73],"heterozygous":[75,82],"variants":[76,102],"same":[77,103],"as":[78,104],"either":[79],"parents":[83],"continued":[84],"pregnancy":[86],"and":[87,131,148],"delivered":[88],"healthy":[89],"babies.":[90],"Another":[91],"eight":[92],"were":[94],"homozygous,":[97],"compound":[98],"heterozygous,":[99],"hemizygous":[101],"proband.":[106],"Of":[107],"these,":[108],"seven":[109],"chose":[111],"terminate":[113],"pregnancy,":[115],"while":[116],"one":[117],"decided":[118],"continue":[120],"pregnancy.":[122],"Neonatal-":[123],"infantile-onset":[125],"show":[128],"severe":[129],"phenotypes":[130],"lead":[132],"lethality.":[134],"Therefore,":[135],"such":[136],"could":[138,151],"be":[139,152],"candidates":[140],"careful":[145],"counseling,":[147],"testing":[150],"a":[153],"viable":[154],"option":[155],"families.":[157]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2021-02-15T00:00:00"}
