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12: Enhanced detection of primary oncogenic drivers in pediatric T-lymphoblastic leukemia (T-ALL) by optical genome mapping (OGM) 12：通过光学基因组定位（OGM）增强对儿童t淋巴细胞白血病（T-ALL）原发性致癌驱动因素的检测
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101929
Gordana Raca , Aleksandra E. Kovach , Karin Miller , Jennifer Han , Katherine Ma , Cindy Fong , Jianling Ji , Ryan Schmidt , Andrew Doan , Deepa Bhojwani
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引用次数: 0
9: Near haploidization is recurrent in central nervous system tumors, not exclusive to giant cell glioblastomas 近单倍体化在中枢神经系统肿瘤中复发，并非巨细胞胶质母细胞瘤所独有
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101926
Aiko Otsubo, Lina Shao
{"title":"9: Near haploidization is recurrent in central nervous system tumors, not exclusive to giant cell glioblastomas","authors":"Aiko Otsubo, Lina Shao","doi":"10.1016/j.gimo.2024.101926","DOIUrl":"10.1016/j.gimo.2024.101926","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101926"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143562238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P004: Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel* P004：来自ClinGen过氧化物酶体变异培养专家小组*的ABCD1变异培养指南规范
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102848
Shruthi Mohan , Irene DeBiase , Tatiana Yuzyuk , Alexa Dickson , Tiziano Pramparo , Stephanie Francis , Pepper St. Clair , Rachel Logan , Randy Cockerell , Raquel Fernandez , Ashley Ratzsch , Emily Kyle , Meredith Weaver , Sharon Suchy , Ann Moser , Rong Mao , Nancy Braverman
{"title":"P004: Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel*","authors":"Shruthi Mohan , Irene DeBiase , Tatiana Yuzyuk , Alexa Dickson , Tiziano Pramparo , Stephanie Francis , Pepper St. Clair , Rachel Logan , Randy Cockerell , Raquel Fernandez , Ashley Ratzsch , Emily Kyle , Meredith Weaver , Sharon Suchy , Ann Moser , Rong Mao , Nancy Braverman","doi":"10.1016/j.gimo.2025.102848","DOIUrl":"10.1016/j.gimo.2025.102848","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102848"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P005: Validation of a multiplex LC-MS/MS assay for newborn screening for MPS II, IVA, VI, and VII in dried blood spots* P005：多重LC-MS/MS法筛查新生儿干血斑MPS II、IVA、VI和VII的验证*
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102849
Samantha Blake , Katerina Kucera , Julia Apoian , Kirstyn Tober , Brooke Migliore , Evan Thorp
{"title":"P005: Validation of a multiplex LC-MS/MS assay for newborn screening for MPS II, IVA, VI, and VII in dried blood spots*","authors":"Samantha Blake , Katerina Kucera , Julia Apoian , Kirstyn Tober , Brooke Migliore , Evan Thorp","doi":"10.1016/j.gimo.2025.102849","DOIUrl":"10.1016/j.gimo.2025.102849","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102849"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P046: Occurrence of anaphylaxis in adult incident pegvaliase-treated PKU patients in a post-marketing safety analysis in the United States P046：美国上市后安全性分析中pegvaliasa治疗的成人PKU患者发生过敏反应的情况
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102890
Karly Louie , Bharath Vedantham , Komal Wadhwa , Rohit Marwah , Shahid Khan , Shaun Jones
{"title":"P046: Occurrence of anaphylaxis in adult incident pegvaliase-treated PKU patients in a post-marketing safety analysis in the United States","authors":"Karly Louie , Bharath Vedantham , Komal Wadhwa , Rohit Marwah , Shahid Khan , Shaun Jones","doi":"10.1016/j.gimo.2025.102890","DOIUrl":"10.1016/j.gimo.2025.102890","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102890"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P094: Dimethylglycine dehydrogenase deficiency in siblings with skeletal and neurodevelopmental manifestations P094：有骨骼和神经发育表现的兄弟姐妹二甲基甘氨酸脱氢酶缺乏
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102938
Valancy Miranda , Imane Samri , Claire Hart , Philippe Campeau
{"title":"P094: Dimethylglycine dehydrogenase deficiency in siblings with skeletal and neurodevelopmental manifestations","authors":"Valancy Miranda , Imane Samri , Claire Hart , Philippe Campeau","doi":"10.1016/j.gimo.2025.102938","DOIUrl":"10.1016/j.gimo.2025.102938","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102938"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P061: Withdrawn P061:撤销
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102905
{"title":"P061: Withdrawn","authors":"","doi":"10.1016/j.gimo.2025.102905","DOIUrl":"10.1016/j.gimo.2025.102905","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102905"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P065: Canonical splice variant c.298+2T>C in OTC associated with attenuated ornithine transcarbamylase deficiency P065：典型剪接变异体C .298+2T>C与减毒鸟氨酸转氨基甲酰基酶缺乏症相关
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102909
Janhawi Kelkar , Yu Leng Phua , Chunli Yu , Colleen Donnelly , Mary LoPiccolo
{"title":"P065: Canonical splice variant c.298+2T>C in OTC associated with attenuated ornithine transcarbamylase deficiency","authors":"Janhawi Kelkar , Yu Leng Phua , Chunli Yu , Colleen Donnelly , Mary LoPiccolo","doi":"10.1016/j.gimo.2025.102909","DOIUrl":"10.1016/j.gimo.2025.102909","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102909"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P069: Progressive neurological symptoms in a 36-year-old female: Clinical challenge P069：一名36岁女性进行性神经症状：临床挑战
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102913
Farah Salman , Caterina Abdala Villa , Pongtawat Lertwilaiwittaya , Anna Hurst
{"title":"P069: Progressive neurological symptoms in a 36-year-old female: Clinical challenge","authors":"Farah Salman , Caterina Abdala Villa , Pongtawat Lertwilaiwittaya , Anna Hurst","doi":"10.1016/j.gimo.2025.102913","DOIUrl":"10.1016/j.gimo.2025.102913","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102913"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P053: Genotype phenotype correlations Inform therapeutic approach in serine palmitoyltransferase (SPT)-related disorders P053：基因型表型相关性提示丝氨酸棕榈酰转移酶（SPT）相关疾病的治疗方法
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102897
Robert Thompson , Yi Gong , Kenneth Gable , Ashley Glover , Teresa Dunn , Florian Eichler
{"title":"P053: Genotype phenotype correlations Inform therapeutic approach in serine palmitoyltransferase (SPT)-related disorders","authors":"Robert Thompson , Yi Gong , Kenneth Gable , Ashley Glover , Teresa Dunn , Florian Eichler","doi":"10.1016/j.gimo.2025.102897","DOIUrl":"10.1016/j.gimo.2025.102897","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102897"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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