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

Pharmacogenomic insights in psychiatric care: uncovering novel actionability, allele-specific CYP2D6 copy number variation, and phenoconversion in 15,000 patients

精神科治疗中的药物基因组学见解：揭示15000名患者中新的可操作性、等位基因特异性CYP2D6拷贝数变异和表型转化

期刊:Molecular Psychiatry
影响因子:10.1
doi:10.1038/s41380-024-02588-4
Patel, Jai N; Morris, Sarah A; Torres, Raul; Rhead, Brooke; Vlangos, Chris; Mueller, Daniel J; Brown, Lisa C; Lefkofsky, Hailey; Ali, Muneer; De La Vega, Francisco M; Barnes, Kathleen C; Zoghbi, Anthony; Stanton, Joseph D; Badgeley, Marcus A
发表日期：2024
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Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

更正：ACMG SF v3.0 临床外显子组和基因组测序中次要发现报告列表：美国医学遗传学和基因组学学会 (ACMG) 的政策声明

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01278-8
Miller, David T; Lee, Kristy; Chung, Wendy K; Gordon, Adam S; Herman, Gail E; Klein, Teri E; Stewart, Douglas R; Amendola, Laura M; Adelman, Kathy; Bale, Sherri J; Gollob, Michael H; Harrison, Steven M; Hershberger, Ray E; McKelvey, Kent; Richards, C Sue; Vlangos, Christopher N; Watson, Michael S; Martin, Christa Lese
发表日期：2021
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ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG SF v3.0 临床外显子组和基因组测序中次要发现报告列表：美国医学遗传学和基因组学学会 (ACMG) 的政策声明

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01172-3
Miller, David T; Lee, Kristy; Chung, Wendy K; Gordon, Adam S; Herman, Gail E; Klein, Teri E; Stewart, Douglas R; Amendola, Laura M; Adelman, Kathy; Bale, Sherri J; Gollob, Michael H; Harrison, Steven M; Hershberger, Ray E; McKelvey, Kent; Richards, C Sue; Vlangos, Christopher N; Watson, Michael S; Martin, Christa Lese
发表日期：2021
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

临床外显子组和基因组测序中次要发现报告建议，2021 年更新：美国医学遗传学和基因组学学会 (ACMG) 的政策声明

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01171-4
Miller, David T; Lee, Kristy; Gordon, Adam S; Amendola, Laura M; Adelman, Kathy; Bale, Sherri J; Chung, Wendy K; Gollob, Michael H; Harrison, Steven M; Herman, Gail E; Hershberger, Ray E; Klein, Teri E; McKelvey, Kent; Richards, C Sue; Vlangos, Christopher N; Stewart, Douglas R; Watson, Michael S; Martin, Christa Lese
发表日期：2021
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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

人类患者的 COQ6 突变会导致肾病综合征和神经性耳聋

期刊:Journal of Clinical Investigation
影响因子:13.3
doi:10.1172/JCI45693
Saskia F Heeringa, Gil Chernin, Moumita Chaki, Weibin Zhou, Alexis J Sloan, Ziming Ji, Letian X Xie, Leonardo Salviati, Toby W Hurd, Virginia Vega-Warner, Paul D Killen, Yehoash Raphael, Shazia Ashraf, Bugsu Ovunc, Dominik S Schoeb, Heather M McLaughlin, Rannar Airik, Christopher N Vlangos, Rasheed
神经
耳聋耳鸣
FCM
IF
WB
Human
WT1
发表日期：2011
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The 24th international Mammalian Genome Conference meeting report

第24届国际哺乳动物基因组大会会议报告

期刊:Mammalian Genome
影响因子:2.7
doi:10.1007/s00335-011-9314-x
Wallace, Marsha; Vlangos, Christopher N; de la Casa-Esperon, Elena
发表日期：2011
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Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

一项针对全球先天性肾病综合征（CNS）患者的研究发现了19种新的NPHS1突变。

期刊:Nephrology Dialysis Transplantation
影响因子:5.6
doi:10.1093/ndt/gfq088
Schoeb, Dominik S; Chernin, Gil; Heeringa, Saskia F; Matejas, Verena; Held, Susanne; Vega-Warner, Virginia; Bockenhauer, Detlef; Vlangos, Christopher N; Moorani, Khemchand N; Neuhaus, Thomas J; Kari, Jameela A; MacDonald, James; Saisawat, Pawaree; Ashraf, Shazia; Ovunc, Bugsu; Zenker, Martin; Hildebrandt, Friedhelm
发表日期：2010
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A novel TRPC6 mutation that causes childhood FSGS

一种导致儿童局灶节段性肾小球硬化症（FSGS）的新型TRPC6基因突变

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0007771
Heeringa, Saskia F; Möller, Clemens C; Du, Jianyang; Yue, Lixia; Hinkes, Bernward; Chernin, Gil; Vlangos, Christopher N; Hoyer, Peter F; Reiser, Jochen; Hildebrandt, Friedhelm
TRPC6
发表日期：2009
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Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome

特定的足细胞蛋白突变与激素抵抗性肾病综合征的发病年龄相关

期刊:Journal of the American Society of Nephrology
影响因子:9.4
doi:10.1681/ASN.2007040452
Hinkes, Bernward; Vlangos, Christopher; Heeringa, Saskia; Mucha, Bettina; Gbadegesin, Rasheed; Liu, Jinhong; Hasselbacher, Katrin; Ozaltin, Fatih; Hildebrandt, Friedhelm
细胞生物学
免疫/内分泌
发表日期：2008
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Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome

在一组患有先天性肾病综合征的儿童中发现了13种新的NPHS1基因突变

期刊:Nephrology Dialysis Transplantation
影响因子:5.6
doi:10.1093/ndt/gfn271
Heeringa, Saskia F; Vlangos, Christopher N; Chernin, Gil; Hinkes, Bernward; Gbadegesin, Rasheed; Liu, Jinhong; Hoskins, Bethan E; Ozaltin, Fatih; Hildebrandt, Friedhelm
发表日期：2008
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