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P072: Assessing the characteristics associated with carriers of the CHEK2 S428F variant P072:评估CHEK2 S428F变异体携带者的相关特征
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100954
Calan Szmyd , Madison LaFleur , Mia Mackall , Katherine Howard , Jingwen Zhang , Youbao Sha
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引用次数: 0
P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia* P003:用于诊断弗里德里希共济失调的血液中frataxin定量的临床实验经验*
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100880
Iris Pantovich , Amy White , April Studinski , Weiyi Mu , Bonnie Kaas , Matthew Bower , Gisele Pino , Dawn Peck , Kyle Salsbery , Emily Lauer , Angela Pickart , Kandelaria Rumilla , Wei Shen , Zhiyv Niu , Patricia Hall , Matthew Schultz , Dimitar Gavrilov , Silvia Tortorelli , Dietrich Matern , Ralitza Gavrilova , Devin Oglesbee
{"title":"P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia*","authors":"Iris Pantovich , Amy White , April Studinski , Weiyi Mu , Bonnie Kaas , Matthew Bower , Gisele Pino , Dawn Peck , Kyle Salsbery , Emily Lauer , Angela Pickart , Kandelaria Rumilla , Wei Shen , Zhiyv Niu , Patricia Hall , Matthew Schultz , Dimitar Gavrilov , Silvia Tortorelli , Dietrich Matern , Ralitza Gavrilova , Devin Oglesbee","doi":"10.1016/j.gimo.2024.100880","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100880","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100880"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000268/pdfft?md5=ca660285e2b8bdc94fd3b5c385889e9f&pid=1-s2.0-S2949774424000268-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061903","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
P037: Design of a multi-center randomized phase 3 clinical trial (HURCULES) evaluating OTL-203 in MPS-IH vs allogeneic hematopoietic stem cell transplantation P037：多中心随机三期临床试验（HURCULES）的设计，评估 OTL-203 在 MPS-IH 与异体造血干细胞移植中的应用
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100914
Paul Harmatz , Robert Wynn , Ashish Gupta , Sandhya Kharbanda , Caroline Lindemans , Rebecca Ahrens-Nicklas , Peter van Hasselt , Troy Lund , Timothy Olson , Francesca Tucci , Leonie Martin , Nathalie Boeglin , Jean Brooks , Su Syonmez , Laura Campbell , Simon Jones , Paul Orchard , Maria Ester Bernardo
{"title":"P037: Design of a multi-center randomized phase 3 clinical trial (HURCULES) evaluating OTL-203 in MPS-IH vs allogeneic hematopoietic stem cell transplantation","authors":"Paul Harmatz , Robert Wynn , Ashish Gupta , Sandhya Kharbanda , Caroline Lindemans , Rebecca Ahrens-Nicklas , Peter van Hasselt , Troy Lund , Timothy Olson , Francesca Tucci , Leonie Martin , Nathalie Boeglin , Jean Brooks , Su Syonmez , Laura Campbell , Simon Jones , Paul Orchard , Maria Ester Bernardo","doi":"10.1016/j.gimo.2024.100914","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100914","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100914"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000608/pdfft?md5=6730991ae32bc5718d077165ddd9fac1&pid=1-s2.0-S2949774424000608-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061908","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
P040: Analytical and clinical validation of succinylacetone, amino Acids, and acylcarnitines in dried blood spots on tandem mass spectrometry in Pakistan P040：巴基斯坦干血斑中琥珀酰丙酮、氨基酸和酰基肉碱的串联质谱分析和临床验证
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100917
Lena Jafri , Azeema Jamil , Farhat Jahan , Hafsa Majid , Sibtain Ahmed , Aysha Khan , Akhtar Shah , Muhammad Bilal
{"title":"P040: Analytical and clinical validation of succinylacetone, amino Acids, and acylcarnitines in dried blood spots on tandem mass spectrometry in Pakistan","authors":"Lena Jafri , Azeema Jamil , Farhat Jahan , Hafsa Majid , Sibtain Ahmed , Aysha Khan , Akhtar Shah , Muhammad Bilal","doi":"10.1016/j.gimo.2024.100917","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100917","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100917"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000633/pdfft?md5=b521393181fe113629de26421a464d00&pid=1-s2.0-S2949774424000633-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061911","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
P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency* P008:ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation 专家小组：满足对 G6PD 缺乏症基因变异分类的需求*
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100885
Shruthi Mohan , Renee Geck , Shawn Fayer , Roseann Donnelly , Mary Relling , Tom Vulliamy , Kelly Caudle , Amber Waddell , Essence Kendall , Gonzalo Domingo , Angelo Minucci , Benedikt Ley , Cindy Chu , Cyrine Haidar , Howard McLeod , Josef Prchal , Mahmoud Sirdah , Vimla Aggarwal , Weiying Jiang , Emily Kyle , Andrew Stergachis
{"title":"P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*","authors":"Shruthi Mohan , Renee Geck , Shawn Fayer , Roseann Donnelly , Mary Relling , Tom Vulliamy , Kelly Caudle , Amber Waddell , Essence Kendall , Gonzalo Domingo , Angelo Minucci , Benedikt Ley , Cindy Chu , Cyrine Haidar , Howard McLeod , Josef Prchal , Mahmoud Sirdah , Vimla Aggarwal , Weiying Jiang , Emily Kyle , Andrew Stergachis","doi":"10.1016/j.gimo.2024.100885","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100885","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100885"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000311/pdfft?md5=a6a05d350b3f00d3bf5345cb62a011ce&pid=1-s2.0-S2949774424000311-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061912","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
P033: Cardiac manifestations of Fabry disease: Insights from a clinic population through cardiac magnetic resonance imaging P033:法布里病的心脏表现：通过心脏磁共振成像从临床人群中获得的启示
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100910
Darby Manternach , Lindsey Reinhardt , Lauren VanOpdorp , Myrl Holida , Ravi Ashwath , Mahi Ashwath , John Bernat
{"title":"P033: Cardiac manifestations of Fabry disease: Insights from a clinic population through cardiac magnetic resonance imaging","authors":"Darby Manternach , Lindsey Reinhardt , Lauren VanOpdorp , Myrl Holida , Ravi Ashwath , Mahi Ashwath , John Bernat","doi":"10.1016/j.gimo.2024.100910","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100910","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100910"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000566/pdfft?md5=e5cb74cda597cb83357ed63c0b28a827&pid=1-s2.0-S2949774424000566-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062079","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
P034: Reduction of blood phenylalanine in participants enrolled in OPAL, an observational study, mirror findings from the US-based PRISM population P034：观察性研究 OPAL 参与者血液中苯丙氨酸含量的降低反映了美国 PRISM 群体的研究结果
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100911
Markey McNutt , Ogun Sazova , Karen Gu , Sarah Rose , Milad Karimi , Frank Rutsch , Ania Muntau
{"title":"P034: Reduction of blood phenylalanine in participants enrolled in OPAL, an observational study, mirror findings from the US-based PRISM population","authors":"Markey McNutt , Ogun Sazova , Karen Gu , Sarah Rose , Milad Karimi , Frank Rutsch , Ania Muntau","doi":"10.1016/j.gimo.2024.100911","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100911","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100911"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000578/pdfft?md5=4bc7fc95afd0fcae5a30d339416b2227&pid=1-s2.0-S2949774424000578-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062080","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
P027: Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: A retrospective investigation P027：尿液有机酸分析作为芳香族 L-氨基酸脱羧酶缺乏症的潜在筛查试验：一项回顾性调查
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100904
Zinandre Stander , William Laxen , Perry Loken , Amy White , Patricia Hall , Matthew Schultz , Dimitar Gavrilov , Dietrich Matern , Devin Oglesbee , Silvia Tortorelli
{"title":"P027: Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: A retrospective investigation","authors":"Zinandre Stander , William Laxen , Perry Loken , Amy White , Patricia Hall , Matthew Schultz , Dimitar Gavrilov , Dietrich Matern , Devin Oglesbee , Silvia Tortorelli","doi":"10.1016/j.gimo.2024.100904","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100904","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100904"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000505/pdfft?md5=be6f45138ebaa8938a847a0267d39aa7&pid=1-s2.0-S2949774424000505-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062293","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
P031: Late onset Pompe disease diagnoses missed by standard newborn screening procedure: The Indiana experience P031：标准新生儿筛查程序漏诊的晚发庞贝氏病：印第安纳州的经验
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100908
Katie Sapp , Molly McPheron , Courtney Slack
{"title":"P031: Late onset Pompe disease diagnoses missed by standard newborn screening procedure: The Indiana experience","authors":"Katie Sapp , Molly McPheron , Courtney Slack","doi":"10.1016/j.gimo.2024.100908","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100908","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100908"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000542/pdfft?md5=199825df262138cdd405394f9aaf3415&pid=1-s2.0-S2949774424000542-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062295","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
Applications of genome sequencing as a single platform for clinical constitutional genetic testing 基因组测序作为临床宪法基因检测单一平台的应用
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.101840
Yao Yang , Daniela del Gaudio , Avni Santani , Stuart A. Scott
{"title":"Applications of genome sequencing as a single platform for clinical constitutional genetic testing","authors":"Yao Yang ,&nbsp;Daniela del Gaudio ,&nbsp;Avni Santani ,&nbsp;Stuart A. Scott","doi":"10.1016/j.gimo.2024.101840","DOIUrl":"10.1016/j.gimo.2024.101840","url":null,"abstract":"<div><div>The number of human disease genes has dramatically increased over the past decade, largely fueled by ongoing advances in sequencing technologies. In parallel, the number of available clinical genetic tests has also increased, including the utilization of exome sequencing for undiagnosed diseases. Although most clinical sequencing tests have been centered on enrichment-based multigene panels and exome sequencing, the continued improvements in performance and throughput of genome sequencing suggest that this technology is emerging as a potential platform for routine clinical genetic testing. A notable advantage is a single workflow with the opportunity to reflexively interrogate content as clinically indicated; however, challenges with implementing routine clinical genome sequencing still remain. This review is centered on evaluating the applications of genome sequencing as a single platform for clinical constitutional genetic testing, including its potential utility for diagnostic testing, carrier screening, cytogenomic molecular karyotyping, prenatal testing, mitochondrial genome interrogation, and pharmacogenomic and polygenic risk score testing.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101840"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140282167","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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