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O08: Re-evaluation of genotype-phenotype correlations in D-bifunctional protein deficiency in a phenotypically diverse cohort of 27 natural history study participants 2008：在27名自然历史研究参与者的表型多样化队列中，重新评估d -双功能蛋白缺乏症的基因型-表型相关性
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.104293
Nancy Braverman , Roan Blakeley , Hongda Li , Mahmoud Moustafa , Evren Gumus , Hermine Djimoudi , Evelyn Zavacky , Christine Yergeau , Yasmin D'Souza
{"title":"O08: Re-evaluation of genotype-phenotype correlations in D-bifunctional protein deficiency in a phenotypically diverse cohort of 27 natural history study participants","authors":"Nancy Braverman , Roan Blakeley , Hongda Li , Mahmoud Moustafa , Evren Gumus , Hermine Djimoudi , Evelyn Zavacky , Christine Yergeau , Yasmin D'Souza","doi":"10.1016/j.gimo.2026.104293","DOIUrl":"10.1016/j.gimo.2026.104293","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 104293"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147394577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P062: The RUNX1-Familal Platelet Disorder Natural History Study: A pilot in understanding hereditary predispositions to hematologic malignancy* p62: runx1 -家族性血小板疾病自然史研究：了解血液恶性肿瘤遗传易感性的先导*
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103553
Natalie Deuitch , Amra Kajdic , Erica Bresciani , Shawn Chong , Kathleen Craft , Joie Davis , David Young , Paul Liu
{"title":"P062: The RUNX1-Familal Platelet Disorder Natural History Study: A pilot in understanding hereditary predispositions to hematologic malignancy*","authors":"Natalie Deuitch , Amra Kajdic , Erica Bresciani , Shawn Chong , Kathleen Craft , Joie Davis , David Young , Paul Liu","doi":"10.1016/j.gimo.2026.103553","DOIUrl":"10.1016/j.gimo.2026.103553","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103553"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P037: Comparison of the peroxisomal biomarkers in females with X-linked adrenoleukodystrophy P037：女性x连锁肾上腺脑白质营养不良患者过氧化物酶体生物标志物的比较
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103528
Wedad Fallatah , Suzette Huguenin
{"title":"P037: Comparison of the peroxisomal biomarkers in females with X-linked adrenoleukodystrophy","authors":"Wedad Fallatah , Suzette Huguenin","doi":"10.1016/j.gimo.2026.103528","DOIUrl":"10.1016/j.gimo.2026.103528","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103528"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P067: Detection of leukemia-associated structural variants using electronic genome (EGM) mapping P067：使用电子基因组（EGM）作图检测白血病相关结构变异
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103558
Ying Zhang , Sangjun Lee , Pasko Lee , Shuk Shukor , Lily Nasanovsky , Anna Lozar , Hanae Sugiura , Kyoko Roberts , Eiichi Araki , Yang Zhang , Jefferson Chan
{"title":"P067: Detection of leukemia-associated structural variants using electronic genome (EGM) mapping","authors":"Ying Zhang , Sangjun Lee , Pasko Lee , Shuk Shukor , Lily Nasanovsky , Anna Lozar , Hanae Sugiura , Kyoko Roberts , Eiichi Araki , Yang Zhang , Jefferson Chan","doi":"10.1016/j.gimo.2026.103558","DOIUrl":"10.1016/j.gimo.2026.103558","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103558"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
O13: Prevalence of cancer predisposition variants in a pediatric pineoblastoma cohort O13：儿童松果体母细胞瘤队列中癌症易感性变异的患病率
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.104299
Fang Fang , Kareesma Parbhoo , Vijayakumar Jayaraman , Don Corsmeier , Douglas Depoorter , Jessica Howard , Liana Hernandez , Amy Everest , Swetha Ramadesikan , Benjamin Kelly , Sean Caruthers , Alejandro Bravo , Shalini Reshmi , Karen Tsuchiya , Daniel R. Boué , Kathleen Schieffer , Marco Leung , Mariam Mathew , Yassmine Akkari , Elaine Mardis , Ying-Chen Claire Hou
{"title":"O13: Prevalence of cancer predisposition variants in a pediatric pineoblastoma cohort","authors":"Fang Fang , Kareesma Parbhoo , Vijayakumar Jayaraman , Don Corsmeier , Douglas Depoorter , Jessica Howard , Liana Hernandez , Amy Everest , Swetha Ramadesikan , Benjamin Kelly , Sean Caruthers , Alejandro Bravo , Shalini Reshmi , Karen Tsuchiya , Daniel R. Boué , Kathleen Schieffer , Marco Leung , Mariam Mathew , Yassmine Akkari , Elaine Mardis , Ying-Chen Claire Hou","doi":"10.1016/j.gimo.2026.104299","DOIUrl":"10.1016/j.gimo.2026.104299","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 104299"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P077: Detection of germline low-level mosaic RB1 variant in a patient with unilateral retinoblastoma and implications P077：单侧视网膜母细胞瘤患者种系低水平嵌合RB1变异的检测及其意义
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103568
Poh San Lai , C.P. Liu , Grace Tan , T.C. Quah
{"title":"P077: Detection of germline low-level mosaic RB1 variant in a patient with unilateral retinoblastoma and implications","authors":"Poh San Lai , C.P. Liu , Grace Tan , T.C. Quah","doi":"10.1016/j.gimo.2026.103568","DOIUrl":"10.1016/j.gimo.2026.103568","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103568"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P009: Low diagnostic yield of genetic testing in suspected metabolic myopathies without biochemical evidence P009：在没有生化证据的情况下，基因检测对疑似代谢性肌病的诊断率低
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103500
Xiyuan Li , Sarah Young , Ashlee Stiles , Kacie Riley , Natalie Katz , Dwight Koeberl
{"title":"P009: Low diagnostic yield of genetic testing in suspected metabolic myopathies without biochemical evidence","authors":"Xiyuan Li , Sarah Young , Ashlee Stiles , Kacie Riley , Natalie Katz , Dwight Koeberl","doi":"10.1016/j.gimo.2026.103500","DOIUrl":"10.1016/j.gimo.2026.103500","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103500"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P013: Glutaric acidemia type 1 (GA-1) in Wisconsin Menominee Nation P013: 1型戊二酸血症（GA-1）在威斯康星州梅诺米尼国家
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103504
Clairissa Kelso , Jessica Kopesky , Jerry Waukau , Joseph Awonohopay , Jennifer Geurts , Lisa Rein , Mei Baker , Gunter Scharer , Ulrich Broeckel , Amy White
{"title":"P013: Glutaric acidemia type 1 (GA-1) in Wisconsin Menominee Nation","authors":"Clairissa Kelso , Jessica Kopesky , Jerry Waukau , Joseph Awonohopay , Jennifer Geurts , Lisa Rein , Mei Baker , Gunter Scharer , Ulrich Broeckel , Amy White","doi":"10.1016/j.gimo.2026.103504","DOIUrl":"10.1016/j.gimo.2026.103504","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103504"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
O05: Defining the genotype-CRIM status relationship in a large cohort of 215 patients with infantile-onset Pompe disease 2005：在215例婴儿发病庞贝病患者中确定基因型与crim状态的关系
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.104290
Jessica Doxey , Erin Huggins , Deeksha Bali , Greg Crawford , Catherine Rehder , Priya Kishnani
{"title":"O05: Defining the genotype-CRIM status relationship in a large cohort of 215 patients with infantile-onset Pompe disease","authors":"Jessica Doxey , Erin Huggins , Deeksha Bali , Greg Crawford , Catherine Rehder , Priya Kishnani","doi":"10.1016/j.gimo.2026.104290","DOIUrl":"10.1016/j.gimo.2026.104290","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 104290"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P028: Design of a randomized, double-blind, placebo-controlled, phase 3, efficacy and safety trial of repinatrabit in adults with phenylketonuria P028：设计一项随机、双盲、安慰剂对照、iii期、疗效和安全性试验的repinatrabit治疗成人苯丙酮尿症
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103519
Cary Harding , Nicola Longo , Markey McNutt , Ania Muntau , Rani Singh , Toby Vaughn , Helene Schluep , Wei Li , Tracie Davis , John Idso , Fernanda Leal-Pardinas
{"title":"P028: Design of a randomized, double-blind, placebo-controlled, phase 3, efficacy and safety trial of repinatrabit in adults with phenylketonuria","authors":"Cary Harding , Nicola Longo , Markey McNutt , Ania Muntau , Rani Singh , Toby Vaughn , Helene Schluep , Wei Li , Tracie Davis , John Idso , Fernanda Leal-Pardinas","doi":"10.1016/j.gimo.2026.103519","DOIUrl":"10.1016/j.gimo.2026.103519","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103519"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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