Journal of Medical Genetics最新文献_第3页

UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants. 英国临床实践指南管理患者的体质POT1致病变异。

IF 3.5 2区医学

Journal of Medical Genetics Pub Date : 2025-06-05 DOI: 10.1136/jmg-2025-110638

Olga Tsoulaki, D Gareth Evans, Khushboo Sinha, Neil Rajan, Farah Bakr, Helen Hatcher, Andrea Napolitano, Elena Finn, Sunil Iyengar, Aslam Sohaib, Timothy J Sadler, Claire Forde, Emma Roisin Woodward, Terri P McVeigh, Marc Tischkowitz, Fiona Lalloo, Helen Hanson

{"title":"UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants.","authors":"Olga Tsoulaki, D Gareth Evans, Khushboo Sinha, Neil Rajan, Farah Bakr, Helen Hatcher, Andrea Napolitano, Elena Finn, Sunil Iyengar, Aslam Sohaib, Timothy J Sadler, Claire Forde, Emma Roisin Woodward, Terri P McVeigh, Marc Tischkowitz, Fiona Lalloo, Helen Hanson","doi":"10.1136/jmg-2025-110638","DOIUrl":"10.1136/jmg-2025-110638","url":null,"abstract":"Constitutional or germline pathogenic variants (GPVs) in protection of telomeres 1 (POT1) are associated with a variety of tumours resulting in the recognition of POT1-tumour predisposition syndrome (POT1-TPDS). These tumours may include cutaneous melanoma, angiosarcoma, haematological malignancy and brain tumours. Due to the rarity of POT1 GPVs and limited available data, the overall lifetime cancer risks for individuals with POT1-TPDS are unclear. Furthermore, there is scant evidence to support the role of surveillance in early cancer detection in this patient group. A recent international publication suggested a surveillance protocol similar to that used in Li-Fraumeni Syndrome (LFS) could be offered to POT1 pathogenic variant carriers, particularly where there are LFS-like features. However, current evidence for POT1-TPDS is not supportive of an equivalent lifetime cancer risk. Given the inclusion of POT1 in the National Test Directory in England and the need for UK-based guidance, an expert group undertook a literature review to assess the phenotypic spectrum of POT1-TPDS and to provide lifetime risk estimates of POT1-associated cancers. The available evidence was shared with a small working group of experts that included clinical geneticists, dermatologists, sarcoma specialists, haematologists and radiologists to cover all aspects of the cancers most commonly associated with POT1-TPDS. Following structured expert group discussions, we achieved consensus on best practice recommendations for a POT1-TPDS UK management protocol.","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identifying the unmet needs of patients with neurofibromatosis type 1 in Singapore. 确定新加坡1型神经纤维瘤病患者未满足的需求。

IF 3.5 2区医学

Journal of Medical Genetics Pub Date : 2025-06-04 DOI: 10.1136/jmg-2025-110702

Agnes Lim, Zi Yang Chua, Celestine Loh, Priyadharshini D/O Suresh, Jeanette Yuen, Manasadevi Kartikeyan, Zhang Zewen, Jianbang Chiang, Mark Jean Aan Koh, Nikki Wen Yan Fong, Ee Shien Tan, Joanne Ngeow

{"title":"Identifying the unmet needs of patients with neurofibromatosis type 1 in Singapore.","authors":"Agnes Lim, Zi Yang Chua, Celestine Loh, Priyadharshini D/O Suresh, Jeanette Yuen, Manasadevi Kartikeyan, Zhang Zewen, Jianbang Chiang, Mark Jean Aan Koh, Nikki Wen Yan Fong, Ee Shien Tan, Joanne Ngeow","doi":"10.1136/jmg-2025-110702","DOIUrl":"https://doi.org/10.1136/jmg-2025-110702","url":null,"abstract":"Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous condition with tumour predisposition, and patients often face neuropsychiatric and psychosocial challenges. This study aimed to identify unmet needs of NF1 patients in Singapore to enhance patient care and service delivery.Methods: 20 patients who were clinically or genetically diagnosed with NF1 were recruited for in-depth interviews. Interviews were transcribed verbatim and analysed using thematic analysis.Results: Five themes emerged from thematic analysis: (1) NF1 trajectory begins from childhood; (2) Coming to terms with body and self; (3) Perceived acceptance drives disclosure patterns; (4) Need for specialised NF1 care; (5) Building local awareness and connections. Six key unmet needs were identified, namely the need for: (1) Optimised multidisciplinary NF1 care; (2) Management of neurological symptoms; (3) Management of cutaneous lesions; (4) Financial coverage for NF1; (5) Early NF1 screening; (6) Local awareness and support groups.Conclusion: Addressing these needs can lead to actionable steps for improving care and quality of life for NF1 patients in Singapore.","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144225714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel founder variant in the S-antigen visual arrestin gene SAG is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese. s抗原视觉抑制基因SAG的新始祖变异是新加坡华人常染色体显性视网膜色素变性的最常见原因。

IF 3.5 2区医学

Journal of Medical Genetics Pub Date : 2025-06-03 DOI: 10.1136/jmg-2025-110775

Mathieu Quinodoz, Yixin Lai, Rachael Wei Chao Tang, Hwee Goon Tay, Tien-En Tan, Saadia Z Farooqui, Choi Mun Chan, Ranjana S Mathur, Carlo Rivolta, Beau J Fenner

{"title":"Novel founder variant in the S-antigen visual arrestin gene SAG is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese.","authors":"Mathieu Quinodoz, Yixin Lai, Rachael Wei Chao Tang, Hwee Goon Tay, Tien-En Tan, Saadia Z Farooqui, Choi Mun Chan, Ranjana S Mathur, Carlo Rivolta, Beau J Fenner","doi":"10.1136/jmg-2025-110775","DOIUrl":"https://doi.org/10.1136/jmg-2025-110775","url":null,"abstract":"Purpose: To characterise a novel founder variant in the SAG gene causing autosomal dominant retinitis pigmentosa (AD-RP) in Singaporean Chinese individuals.Design: Single-centre prospective observational cohort study.Methods: Unrelated probands with AD-RP and their affected relatives were recruited from a tertiary eye hospital in Singapore. Genetic analysis was performed using whole exome sequencing and targeted gene panel testing. Clinical phenotyping included best-corrected visual acuity (BCVA), multimodal imaging and visual field assessments. In silico analyses were conducted to assess variant pathogenicity and conservation.Results: We identified a novel heterozygous SAG variant, NM_000541.5:c.442G>A (p.Gly148Arg), in five unrelated families of Southern Chinese descent. A shared haplotype of 3.2 Mb among four families suggested a founder effect. Affected individuals presented with mid-life onset nyctalopia (median age 44 years), progressive BCVA loss after age 40 and severe visual field constriction by the fifth decade. Fundus imaging revealed diffuse retinal pigment epithelium atrophy and perivascular pigmentation. In silico predictions suggest that p.Gly148Arg disrupts conformational changes that are required for rhodopsin modulation.Conclusion: The SAG c.442G>A (p.Gly148Arg) variant represents the first reported SAG-related AD-RP founder variant in ethnic Chinese individuals. Its phenotypic resemblance to the previously described SAG c.440G>T (p.Cys147Phe) variant underscores a common disease mechanism. These findings expand the genetic landscape of AD-RP and highlight SAG as a potential therapeutic target.","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144216086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A novel 8-octapeptide repeat insertion in PRNP causing Huntington disease-like 1 in a Chinese family: a case report and literature review. 一个新的8-八肽重复插入导致中国家族亨廷顿病样1的PRNP：一个病例报告和文献复习

IF 3.5 2区医学

Journal of Medical Genetics Pub Date : 2025-06-03 DOI: 10.1136/jmg-2024-110520

Jie Ni, Fangxue Zheng, Lihua Yu, Fangping He, Fang Ji, Yi Ling, Ping Liu, Guoping Peng, Qing Ke

{"title":"A novel 8-octapeptide repeat insertion in PRNP causing Huntington disease-like 1 in a Chinese family: a case report and literature review.","authors":"Jie Ni, Fangxue Zheng, Lihua Yu, Fangping He, Fang Ji, Yi Ling, Ping Liu, Guoping Peng, Qing Ke","doi":"10.1136/jmg-2024-110520","DOIUrl":"https://doi.org/10.1136/jmg-2024-110520","url":null,"abstract":"Background: Approximately 1-3% of patients with Huntington disease (HD) present with HD-like phenotype but test negative for the HD gene, suggesting other causes.Methods: This study presents the first case of Huntington disease-like 1 (HDL-1) in a Chinese family and summarises the clinical features of previously reported HDL-1 cases and patients with octapeptide repeat insertion (OPRI) mutations.Results: The proband, a 36-year-old woman, presented with progressive involuntary movements, bradykinesia, cognitive decline and personality changes over 6 years, worsening over the past year. Similar manifestations were noted in her grandmother, father and aunt. Genetic testing revealed an 8-OPRI mutation in PRNP, confirming HDL-1. Neuroimaging showed increased T2-Fluid Attenuated Inversion Recovery (FLAIR) signals in the hippocampi and atrophic changes in the frontal and parietal lobes. Electroencephalography indicated a slowed background rhythm. A 1-year follow-up visit showed amelioration of choreic movements. A literature review identified five families with HDL-1, with age of onset ranging from 18 years to 54 years and disease duration from 3 months to over 20 years. Common manifestations included movement disorders, dementia, personality changes and heterogeneous symptoms such as epilepsy. Imaging showed ventricular enlargement and diffuse brain atrophy, primarily affecting the basal ganglia, frontal lobes, temporal lobes and cerebellum. Pathologically, prion protein antibody staining was positive, although spongiform changes were not prominent.Conclusion: These cases highlight the importance of considering familial prion diseases in patients with hereditary chorea and a negative HD gene test. Careful attention to treatment and follow-up can provide valuable insights for managing these patients.","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144216085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Associations between ATM c.7271T>G and cancer risk: analysis of Breast Cancer Association Consortium and UK Biobank data. ATM c.7271T>G与癌症风险的关系：乳腺癌协会联合会和英国生物银行数据分析

IF 3.5 2区医学

Journal of Medical Genetics Pub Date : 2025-06-01 DOI: 10.1136/jmg-2025-110769

Toqir K Mukhtar, Leila Dorling, Naomi Wilcox, Joe Dennis, Xin Yang, Melissa Southey, Marc Tischkowitz, Douglas F Easton

{"title":"Associations between ATM c.7271T>G and cancer risk: analysis of Breast Cancer Association Consortium and UK Biobank data.","authors":"Toqir K Mukhtar, Leila Dorling, Naomi Wilcox, Joe Dennis, Xin Yang, Melissa Southey, Marc Tischkowitz, Douglas F Easton","doi":"10.1136/jmg-2025-110769","DOIUrl":"https://doi.org/10.1136/jmg-2025-110769","url":null,"abstract":"Previous studies have suggested the missense variant NM_000051.4(ATM):c.7271T>G is associated with a high risk of breast cancer (BC), but the magnitude of the association, and the associations with other cancer types, are unclear. Cancer associations were evaluated using sequence data linked to cancer registration data (348 488 participants, 56 640 cancer cases) from UK Biobank (UKB), and targeted sequence or genome-wide array data (126 428 cases, 115 495 controls) from the Breast Cancer Association Consortium (BCAC). The magnitudes of the association of c.7271T>G with invasive BC were similar using UKB (relative risk (RR): 4.57, 95% CI: 2.25 to 9.30, p=2.7×10-5) and BCAC (OR: 4.11, 2.05 to 8.26, p=6.9×10-5). In UKB, c.7271T>G was associated with increased risks of prostate cancer (4.84, 2.27 to 10.33, p=4.54×10-5), and any other cancer (males 2.79, 1.33 to 5.85, p=0.0066; females 3.15, 1.49 to 6.63, p=0.0026). Estimated cumulative risks of all cancers to age 80 years were 87% in males (prostate cancer 43%) and 84% in females (BC 43%). The estimated RRs are consistent with c.7271T>G being associated with a risk of more than twice that for Ataxia-Telangiectasia Mutated protein-truncating variants, for all cancers. These data justify specific management of c.7271T>G carriers.","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Using long-read sequencing to detect and subtype a case with Temple syndrome. 应用长读序列法检测1例坦普尔综合征并分型。

IF 3.5 2区医学

Journal of Medical Genetics Pub Date : 2025-05-30 DOI: 10.1136/jmg-2024-110262

Sarah Dada, Vahid Akbari, Duha Hejla, Yaoqing Shen, Katherine Dixon, Sanaa Choufani, Rosanna A Weksberg, Cornelius F Boerkoel, Laura Stewart, Kamilla Schlade-Bartusiak, Emma Strong, Danya Fox, Daniel Gamu, William T Gibson, Steven J M Jones

{"title":"Using long-read sequencing to detect and subtype a case with Temple syndrome.","authors":"Sarah Dada, Vahid Akbari, Duha Hejla, Yaoqing Shen, Katherine Dixon, Sanaa Choufani, Rosanna A Weksberg, Cornelius F Boerkoel, Laura Stewart, Kamilla Schlade-Bartusiak, Emma Strong, Danya Fox, Daniel Gamu, William T Gibson, Steven J M Jones","doi":"10.1136/jmg-2024-110262","DOIUrl":"https://doi.org/10.1136/jmg-2024-110262","url":null,"abstract":"Temple syndrome is an imprinting disorder resulting from abnormal genomic or epigenomic aberrations of chromosome 14 including maternal uniparental disomy (matUPD), paternal deletion of 14q32, or aberrant methylation of the imprinting control regions at 14q32. Understanding the underlying molecular mechanism is essential to understanding the recurrence risk and physical effects. Currently, diagnosis requires the detection of aberrant methylation and copy number loss via methylation-sensitive assays such as methylation-specific multiplex ligation-dependent probe amplification, and short tandem repeat analysis to detect matUPD and the presence of epimutation. Therefore, a one-step approach that can detect aberrant methylation and underlying genetic mechanisms would be of high clinical value. Here we use nanopore sequencing to delineate the molecular diagnosis of a case with Temple syndrome. We demonstrate the application of nanopore sequencing to detect aberrant methylation and underlying genetic mechanisms simultaneously in this case, thus providing a proof of concept for a one-step approach for molecular diagnosis of this disorder.","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144187155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IF 3.5 2区医学

Journal of Medical Genetics Pub Date : 2025-05-27 DOI: 10.1136/jmg-2025-110656

Sylvia Boesch, Michael Zech

{"title":"AOPEP-related autosomal recessive dystonia: update on Zech-Boesch syndrome.","authors":"Sylvia Boesch, Michael Zech","doi":"10.1136/jmg-2025-110656","DOIUrl":"10.1136/jmg-2025-110656","url":null,"abstract":"Gene discovery efforts have contributed to a better understanding of the molecular causes of dystonia, but knowledge of the individual monogenic forms remains limited. This review seeks to summarise all available data on the recently identified autosomal recessive subtype of dystonia caused by variants in AOPEP, focusing on the geographical origins of affected families, mutational spectrum, phenotypic expressions and pathophysiology. AOPEP-related dystonia, documented as Zech-Boesch syndrome in the Online Mendelian Inheritance in Man database, has been diagnosed in cohorts around the globe including under-represented populations with increased rates of consanguinity. Predictably leading to loss of protein function, the majority (74%) of disease-associated AOPEP alleles are protein-truncating variants comprising homozygous and compound heterozygous stop-gain, frameshift and splice-site changes. The dystonic disorder shows onset from childhood to the fourth decade and generalises in a significant proportion of cases (60%). Variable expressivity and age-related penetrance are likely to play a role in manifestation of the condition, consistent with occasional occurrence of AOPEP homozygous pathogenic variants in subjects without a diagnosis of dystonia. AOPEP encodes aminopeptidase O, a proteolytic processing enzyme that is preferentially expressed in glia and potentially linked to endosomal-lysosomal pathways. AOPEP-related autosomal recessive Zech-Boesch syndrome is of worldwide relevance for the diagnosis of genetic dystonia. Future research focusing on AOPEP`s role in cellular protein metabolism may provide new insights into dystonia pathogenesis and yet-unidentified therapeutic targets.","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"388-395"},"PeriodicalIF":3.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome. 中度管状聚集性肌病/Stormorken综合征患者的8个氨基酸的STIM1框架内缺失。

IF 3.5 2区医学

Journal of Medical Genetics Pub Date : 2025-05-27 DOI: 10.1136/jmg-2024-110273

Emma Lafabrie, Maja Vrdoljak Pažur, Jocelyn Laporte, Johann Böhm

{"title":"STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome.","authors":"Emma Lafabrie, Maja Vrdoljak Pažur, Jocelyn Laporte, Johann Böhm","doi":"10.1136/jmg-2024-110273","DOIUrl":"10.1136/jmg-2024-110273","url":null,"abstract":"Store-operated Ca2+ entry (SOCE) is a ubiquitous mechanism controlling Ca2+ homeostasis and relies on the reticular Ca2+ sensor STIM1 and the plasma membrane Ca2+ channel ORAI1. STIM1 and ORAI1 gain-of-function mutations induce excessive Ca2+ influx through SOCE overactivation and cause tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK), two overlapping disorders characterised by muscle weakness and additional signs such as short stature, thrombocytopenia and hyposplenism. Most patients carry missense mutations in the STIM1 Ca2+-sensing EF-hands or in the CC1 domain implicated in ORAI1 activation.Here we report the first STIM1 deletion in a patient with moderate TAM/STRMK phenotype encompassing exercise-induced muscle weakness, elevated creatine kinase levels, asplenia and transient thrombocytopenia. The c.702_725del mutation occurred de novo and is predicted to involve the deletion of eight amino acids between EF-hands and the CC1 domain. We conducted a series of functional experiments in mouse and human cells lines and provided the evidence that the in-frame deletion causes constitutive STIM1 clustering and ORAI1 recruitment, resulting in profuse extracellular Ca2+ entry and major nuclear translocation of the transcription factor NFAT1. Overall, this work illustrated the pathogenicity of the STIM1 in-frame deletion at different levels of the SOCE pathway and provided a molecular diagnosis for the affected family.","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"381-387"},"PeriodicalIF":3.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease. Von Hippel-Lindau病中非常早发的症状性中枢神经系统血管母细胞瘤。

IF 3.5 2区医学

Journal of Medical Genetics Pub Date : 2025-05-27 DOI: 10.1136/jmg-2024-110477

Marina Caballero, Vicente Santa-Maria Lopez, Laura Marti, Loreto Martorell, Diana Salinas, Jose Hinojosa, Maria Victoria Becerra, Miriam Pavon-Mengual, Andres Morales La Madrid, Ofelia Cruz, Jordi Muchart, Hector Salvador

引用次数: 0

Canadian College of Medical Geneticists (CCMG) position statement on the storage of patient genetic and genomic information in electronic health records. 加拿大医学遗传学家学院（CCMG）关于在电子健康记录中存储患者遗传和基因组信息的立场声明。

IF 3.5 2区医学

Journal of Medical Genetics Pub Date : 2025-05-27 DOI: 10.1136/jmg-2025-110629

Anne-Marie Laberge, Nolan D'Souza, Lynette S Penney, Karim Jessa, Lauren Chad

引用次数: 0