日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study

了解基因组学次要发现对临床护理和患者体验的影响：一项前瞻性观察研究方案

期刊:BMJ Open
影响因子:
doi:10.1136/bmjopen-2025-115821
Assamad, Daniel; Hansen, Abigail; Fooks, Katharine; Luca, Stephanie; Venkataramanan, Viji; Hsue, Erin; Shickh, Salma; Yan, Joyce; Wu, Vercancy; Badalato, Lauren; Balci, Tugce B; Beausejour Ladouceur, Virginie; Chad, Lauren; Chisholm, Caitlin; Gillespie, Meredith K; Huang, Lijia; Jarinova, Olga; Lau, Lynette; Lee, Whiwon; Mackley, Michael P; Marshall, Christian R; Mendoza-Londono, Roberto; Morel, Chantal F; Richer, Julie; Sawyer, Sarah; Stavropoulos, Dimitri J; Szuto, Anna; Tarnopolsky, Mark; Villani, Anita; Zahavich, Laura; Somerville, Martin J; Boycott, Kym M; Ungar, Wendy J; Hayeems, Robin Z
发表日期：2026
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Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

与肥厚型心肌病相关的基因：ClinGen遗传性心血管疾病基因注释专家组的重新评估

期刊:Journal of the American College of Cardiology
影响因子:22.3
doi:10.1016/j.jacc.2024.12.010
Hespe, Sophie; Waddell, Amber; Asatryan, Babken; Owens, Emma; Thaxton, Courtney; Adduru, Mhy-Lanie; Anderson, Kailyn; Brown, Emily E; Hoffman-Andrews, Lily; Jordan, Elizabeth; Josephs, Katherine; Mayers, Megan; Peters, Stacey; Stafford, Fergus; Bagnall, Richard D; Bronicki, Lucas; Callewaert, Bert; Chahal, C Anwar A; James, Cynthia A; Jarinova, Olga; Landstrom, Andrew P; McNally, Elizabeth M; Murray, Brittney; Muiño-Mosquera, Laura; Parikh, Victoria; Reuter, Chloe; Walsh, Roddy; Wayburn, Bess; Ware, James S; Ingles, Jodie
心血管
心血管疾病
心肌病
发表日期：2025
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Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel

对与马凡综合征相关的FBN1变异的解读和分类：临床基因组资源FBN1变异注释专家组的共识建议

期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-024-01423-3
Drackley, A; Somerville, C; Arnaud, P; Baudhuin, L M; Hanna, N; Kluge, M L; Kotzer, K; Boileau, C; Bronicki, L; Callewaert, B; Cecchi, A; Dietz, H; Guo, D; Harris, S; Jarinova, O; Lindsay, M; Little, L; Loeys, B; MacCarrick, G; Meester, J; Milewicz, D; Morisaki, T; Morisaki, H; Murdock, D; Renard, M; Richer, J; Robert, L; Ouzounian, M; Van Laer, L; De Backer, J; Muiño-Mosquera, L
FBN1
发表日期：2024
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ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy

ClinGen遗传性心血管疾病基因注释专家组：重新评估与肥厚型心肌病相关的基因

期刊:
影响因子:
doi:10.1101/2024.07.29.24311195
Hespe, Sophie; Waddell, Amber; Asatryan, Babken; Owens, Emma; Thaxton, Courtney; Adduru, Mhy-Lanie; Anderson, Kailyn; Brown, Emily E; Hoffman-Andrews, Lily; Jordan, Elizabeth; Josephs, Katherine; Mayers, Megan; Peters, Stacey; Stafford, Fergus; Bagnall, Richard D; Bronicki, Lucas; Callewaert, Bert; Chahal, C Anwar A; James, Cynthia A; Jarinova, Olga; Landstrom, Andrew P; McNally, Elizabeth M; Murray, Brittney; Muiño-Mosquera, Laura; Parikh, Victoria; Reuter, Chloe; Walsh, Roddy; Wayburn, Bess; Ware, James S; Ingles, Jodie
心血管
心血管疾病
心肌病
发表日期：2024
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Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

超越基因-疾病有效性：获取遗传、等位基因需求、疾病相关变异类别以及遗传性心脏病疾病机制的结构化数据

期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-023-01246-8
Josephs, Katherine S; Roberts, Angharad M; Theotokis, Pantazis; Walsh, Roddy; Ostrowski, Philip J; Edwards, Matthew; Fleming, Andrew; Thaxton, Courtney; Roberts, Jason D; Care, Melanie; Zareba, Wojciech; Adler, Arnon; Sturm, Amy C; Tadros, Rafik; Novelli, Valeria; Owens, Emma; Bronicki, Lucas; Jarinova, Olga; Callewaert, Bert; Peters, Stacey; Lumbers, Tom; Jordan, Elizabeth; Asatryan, Babken; Krishnan, Neesha; Hershberger, Ray E; Chahal, C Anwar A; Landstrom, Andrew P; James, Cynthia; McNally, Elizabeth M; Judge, Daniel P; van Tintelen, Peter; Wilde, Arthur; Gollob, Michael; Ingles, Jodie; Ware, James S
心脏病
心血管
发表日期：2023
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Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy

患有遗传性运动神经病的兄弟姐妹中发现 COQ7 的新型纯合变异

期刊:Neurology-Genetics
影响因子:3
doi:10.1212/NXG.0000000000200048
Ian C Smith, Chantal A Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R Bourque, Ari Breiner, Jocelyn Zwicker, C Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A Dyment, Bernard Brais, Kym M Bo
神经
发表日期：2023
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Fetal akinesia deformation sequence syndrome associated with recessive TTN variants

与隐性TTN变异相关的胎儿运动不能畸形序列综合征

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63071
Alkhunaizi, Ebba; Martin, Nicole; Jelin, Angie C; Rosner, Mara; Bailey, Diana J; Steiner, Laurie A; Lakhani, Saquib; Ji, Weizhen; Katzman, Philip J; Forster, Katherine R; Jarinova, Olga; Shannon, Patrick; Chitayat, David
发表日期：2023
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Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

超越基因-疾病有效性：获取遗传、等位基因需求、疾病相关变异类别以及遗传性心脏病疾病机制的结构化数据

期刊:
影响因子:
doi:10.1101/2023.04.03.23287612
Josephs, Katherine S; Roberts, Angharad M; Theotokis, Pantazis; Walsh, Roddy; Ostrowski, Philip J; Edwards, Matthew; Fleming, Andrew; Thaxton, Courtney; Roberts, Jason D; Care, Melanie; Zareba, Wojciech; Adler, Arnon; Sturm, Amy C; Tadros, Rafik; Novelli, Valeria; Owens, Emma; Bronicki, Lucas; Jarinova, Olga; Callewaert, Bert; Peters, Stacey; Lumbers, Tom; Jordan, Elizabeth; Asatryan, Babken; Krishnan, Neesha; Hershberger, Ray E; Chahal, C Anwar A; Landstrom, Andrew P; James, Cynthia; McNally, Elizabeth M; Judge, Daniel P; van Tintelen, Peter; Wilde, Arthur; Gollob, Michael; Ingles, Jodie; Ware, James S
心脏病
心血管
发表日期：2023
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Heterozygous Variants in the DNA-binding Domain of c-Myb May Affect Normal B/T Cell Development

c-Myb DNA 结合域中的杂合变异可能影响正常 B/T 细胞发育

期刊:Hemasphere
影响因子:7.6
doi:10.1097/HS9.0000000000000774
Bas M Smits, Taila Hartley, Ester Dünnebach, Marije Bartels, Kim M Boycott, Kirstin D Kernohan, David A Dyment, Jacques C Giltay, Elie Haddad, Olga Jarinova, Joris van Montfrans, Annet van Royen-Kerkhof, Lars T van der Veken, Moniek de Witte, Stefan Nierkens, Anne Pham-Huy, Helen L Leavis1
免疫
细胞生物学
T细胞
发表日期：2022
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Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario

比较基因组测序技术以改进罕见病诊断：一项试点项目评估方案，安大略省全基因组测序

期刊:
影响因子:
doi:10.9778/cmajo.20210272
Hayeems, Robin Z; Marshall, Christian R; Gillespie, Meredith K; Szuto, Anna; Chisholm, Caitlin; Stavropoulos, Dimitri J; Venkataramanan, Viji; Tsiplova, Kate; Sawyer, Sarah; Price, E Magda; Lau, Lynette; Khan, Reem; Lee, Whiwon; Huang, Lijia; Jarinova, Olga; Ungar, Wendy J; Mendoza-Londono, Roberto; Somerville, Martin J; Boycott, Kym M
Sequencing
发表日期：2022
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