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Genetics in Medicine 封面图

Genetics in Medicine

IF6.2
论文数5548
被引数20378
期刊论文 5548
发表时间
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The Economic Value of Hereditary Cancer Testing: A Systematic Review遗传性癌症检测的经济价值：一项系统综述
deleteGenetics in Medicine
IF6.2
delete2026-10-23
delete0
deleteOAAI
deleteCarol Kirshner; Gebra Cuyun Carter; Brandie Heald; Deborah Hartzfeld; Heather Johnson; Jade Xiao; Joyce Kong; Gina Thompson; Feyza Sancar; Mary Litton Peters
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Not Forgotten: Patient Experiences with Genetic Variant Reclassifications不被遗忘：患者对基因变异重新分类的体验
deleteGenetics in Medicine
IF6.2
delete2026-10-22
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PREAI
deletePankhuri Gupta; Min Seon Park; Eric Y. Kao; Abbye E. McEwen; Runjun D. Kumar; Martha Horike-Pyne; Douglas M. Fowler; Lea M. Starita; Sarah Knerr; Andrew B. Stergachis
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Framework for combined functional and computational assessment of variant pathogenicity in the sodium leak channel NALCN钠漏通道NALCN中变异致病性的联合功能与计算评估框架
deleteGenetics in Medicine
IF6.2
delete2026-10-22
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PREAI
deleteClaudia Weidling; Hendrik Harms; Aisha Ameen; Aleksandra Panfilova; Tomma Gloystein; Amelie Stein; Han C. Chua; Stephan A. Pless
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Exome-wide analysis of rare deleterious variants in 3,569 sarcoma cases and 21,788 controls from multiple international data sources reveals no novel susceptibility genes对来自多个国际数据源的3,569例肉瘤病例和21,788例对照的基因组外显子范围分析，未发现新的易感基因
deleteGenetics in Medicine
IF6.2
delete2026-10-21
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deleteAlice Garrett; Zeid Kuzbari; Isaac Wade; Chey Loveday; Charlie Rowlands; Adrian Larkeryd; Sophie Allen; Swetansu Pattnaik; Piyush Mundra; Adrienne Flannagan; Ian Tomlinson; Mandy Ballinger; Philip J. Lupo; Douglas R. Stewart; David Thomas; Clare Turnbull
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Integrative long-read sequencing, RNA-seq and machine learning framework characterizes and predicts autosomal silencing in unbalanced X-autosome translocations整合长读长测序、RNA-seq和机器学习框架表征并预测不平衡X-常染色体易位中的常染色体沉默
deleteGenetics in Medicine
IF6.2
delete2026-10-13
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PREAI
deleteBianca P. Favilla; Ahmed Al-Rikabi; Paula Asprino; Eduardo Perrone; Danilo Moretti-Ferreira; Vera A. Meloni; Pedro A.F. Galante; Danielle C.F. Bruno; Iscia Lopes-Cendes; Thomas Liehr; Fernanda Bellucco; Maria Isabel Melaragno
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“TRACEBACK has probably saved my life”: experiences of being notified about clinically significant cancer genetic information by the Australian TRACEBACK program“TRACEBACK可能拯救了我的生命”：澳大利亚TRACEBACK计划通知临床显著癌症遗传信息后的经历
deleteGenetics in Medicine
IF6.2
delete2026-10-12
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PREAI
deleteAnishka Abeysinghe; Rachel Delahunty; Mary-Anne Young; Linh Nguyen; Paul A. James; David Bowtell; Kathryn Alsop; Laura Forrest
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Individuals heterozygous for LTBP2 loss-of-function variants have an increased risk of adult-onset primary open-angle glaucomaLTBP2杂合子功能缺失变异个体患成人原发性开角型青光眼的风险增加
deleteGenetics in Medicine
IF6.2
delete2026-10-08
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PREAI
deleteMauricio Garcia; Yuyang Luo; Jyoti Lama; Terri L. Young; Elizabeth Rossin; Louis R. Pasquale; Pirro G. Hysi; Anthony P. Khawaja; David A. Mackey; Jamie E. Craig; Emmanuelle Souzeau; Inas F. Aboobakar; Ayellet V. Segrè; Janey L. Wiggs
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Delineating the Phenotypic Spectrum of SLC26A2-related Skeletal Dysplasias in a Cohort of 115 Patients: Evidence for a Novel Complex Allele Modifying Disease SeveritySLC26A2相关骨骼发育不良表型谱在115例患者的队列研究：一种新型复合等位基因修饰疾病严重程度的证据
deleteGenetics in Medicine
IF6.2
delete2026-10-05
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PREAI
deleteDaria Gorodilova; Tatiana Markova; Vladimir Kenis; Evgenii Melchenko; Alexandra Filatova; Natalia Ogorodova; Gusein Rustamov; Elena Dadali; Tatiana Nagornova; Natalya Skoblova; Olga Khailova; Alexandra Akinshina; Artem Borovikov; Vyacheslav Tabakov; Eugene Tatarskiy; Andrey Marakhonov; Yurii Skoblov; Olga Shchagina; Sergey Kutsev; Mikhail Skoblov
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Mainstreaming general genetics referrals: measuring the impact on wait times in a general genetics practice主流化普通遗传学转诊：衡量其对普通遗传学实践中心等待时间的影响
deleteGenetics in Medicine
IF6.2
delete2026-10-03
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deleteOAAI
deleteRachelle Dinchong; Stefani Evans; Melanie Guy; Helen Coo; Andrea Guerin
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CHARGE free cascade genetic testing: Effectiveness and implementation outcomes from a hybrid type I feasibility trial免费串联遗传检测：一项混合型I可行性试验的有效性及实施结果
deleteGenetics in Medicine
IF6.2
delete2026-10-01
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PREAI
deleteSukh Makhnoon; Nandana D. Rao; Grace Getchell; Yanete Rodriguez; Elena Hong; Sofia Bereket; Tiwatope Ibidapo; Sara Pirzadeh-Miller; MinJae Lee; Nora B. Henrikson
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Mainstreaming genetic testing: Evaluation of the Australian Familial Melanoma Clinic主流化基因检测：澳大利亚家族性黑色素瘤诊所的评估
deleteGenetics in Medicine
IF6.2
delete2026-10-01
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deleteOAAI
deleteJennifer Berkman; Clare Primiero; Centaine Snoswell; Courtney K. Wallingford; Betsy Peach; Emily DeBortoli; Xiaohua Shen; Helmut Schaider; Kiarash Khosrotehrani; Tatiane Yanes; H. Peter Soyer; Aideen McInerney-Leo
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More Than Screening: What Does Equity in Reproductive Genetics Look Like?超越筛查：生殖遗传学中的公平是什么样的？
deleteGenetics in Medicine
IF6.2
delete2026-09-29
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PREAI
deleteAsha N. Talati; Andrea Johnson; Neeta L. Vora
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A Pilot Study of the Hereditary Heart Disease Risk Algorithm and User Experience of the Family Health Risk Calculator遗传性心脏病风险算法及家庭健康风险计算器用户体验的初步研究
deleteGenetics in Medicine
IF6.2
delete2026-09-29
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deleteOAAI
deleteRegan Webber; Hibatallah Khafagy; Natali Zecchino; Alberta Nomo; Yue Yu; Patricia Parker; Shelly Hovick; Kevin Sweet; Elizabeth Jordan
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The Economic Costs of Genetic Counseling: A Combined Expert Perspective and Systematic Review遗传咨询的经济成本：专家视角与系统综述相结合
deleteGenetics in Medicine
IF6.2
delete2026-09-28
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PREAI
deleteVarinder Jeet; Julie Cigrang; Amanda Willis; Henry Cutler; Mary-Anne Young
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Not the end of the road: Achieving diagnoses following non-diagnostic exome sequencing: experiences at a clinical site of the Undiagnosed Diseases Network并非终点：在非诊断性外显子测序后实现诊断：未诊断疾病网络临床站点经验
deleteGenetics in Medicine
IF6.2
delete2026-09-28
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PREAI
deleteRebecca C. Spillmann; Nicole Walley; Kelly Schoch; Mohamad A. Mikati; Vaidehi Jobanputra; Patrick Shea
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Barriers and facilitators of implementing integrated genomic risk assessment – a qualitative case study in an academic-affiliated health system实施综合基因组风险评估的障碍与促进因素——一项在学术附属卫生系统中的定性案例研究
deleteGenetics in Medicine
IF6.2
delete2026-09-25
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PREAI
deleteJingheng H. Chen; David L. Veenstra; David R. Crosslin; Gail P. Jarvik; Sarah A. Knerr
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Universal versus guideline-based germline multigene panel testing in solid tumors: Diagnostic yield, variant of uncertain significance burden, and clinical actionability - A systematic review with meta-analysis实体瘤中泛基因组与指南基础性胚系多基因面板检测的比较：诊断收益、意义未明变异负担及临床可操作性——一项系统评价与荟萃分析
deleteGenetics in Medicine
IF6.2
delete2026-09-24
delete0
PREAI
deleteImad Barjij; Sarah Naciri; Sihame Lkhoyaali; Saoussane Kharmoum; Hanane Inrhaouen; Ibrahim Elghissassi; Saber Boutayeb; Hind Mrabti; Hassan Errihani
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Rescue of Proteus syndrome lethality in mice with prenatal miransertib treatment用产前miransertib治疗拯救小鼠中的变形性骨不全综合征致死性
deleteGenetics in Medicine
IF6.2
delete2026-09-24
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deleteShaima Raji Abdul Rahiman Sirajuddeen; Marjorie J. Lindhurst; Megan Detels; Nathaniel Laughner; Jennifer Johnston; Lauren R. Brinster; Leslie G. Biesecker
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Who Are We Missing: Examining Health Insurance Coverage for Expanded Carrier Screening我们遗漏了谁：检验扩展性携带者筛查的医疗保险覆盖情况
deleteGenetics in Medicine
IF6.2
delete2026-09-22
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PREAI
deleteCandice Shi; MaryAnn Campion; Carly M. Smith; Jenna Kornish
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Assessing Melanoma and Pancreatic Cancer Risks in Diverse CDKN2A Heterozygote Populations评估不同CDKN2A杂合子人群中黑色素瘤和胰腺癌的风险
deleteGenetics in Medicine
IF6.2
delete2026-09-22
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deleteColin C. Young; Magan Trottier; Carolyn Horton; Maggie Feng; Amal Yussuf; Jacqueline Mersch; Amber Gemmell; Andrew Giles; Linda M. Polfus; Marcy E. Richardson
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