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Human Molecular Genetics 封面图

Human Molecular Genetics

IF3.2
论文数11403
被引数35412
期刊论文 11403
发表时间
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Transcriptomic signatures of lipids in blood provide hypotheses of functional mechanisms linked to lipid metabolism and immune-cell regulation血液中脂质转录组特征为与脂质代谢和免疫细胞调控相关的功能机制提供了假说
deleteHuman Molecular Genetics
IF3.2
delete2026-10-29
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deleteJessica I Lundin; Mariaelisa Graff; Jeff Haessler; Xinruo Zhang; Yanwei Cai; Harriett Fuller; Nancy Heard-Costa; Tianxiao Huan; Roby Joehanes; Joshua M Landman; Gina Marie Peloso; Yuxuan Wang; Zhe Wang; Jennifer E Below; Daniel Levy; Kari E North; Alex P Reiner; Ryan Zukowski; Ulrike Peters; Charles Kooperberg
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Genomic profiling of microphthalmia trios reveals novel pathogenic drivers and repetitive element instability小眼畸形三联症基因组分析揭示新型致病驱动因素和重复元件不稳定性
deleteHuman Molecular Genetics
IF3.2
delete2026-10-28
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deleteLi Yang; Congfan Bu; Qianwen Gao; Jingfa Xiao; Zhenglin Du; Dongmei Li; null
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KATNAL2 dysfunction impairs microtubule dynamics and contributes to syndromic neurodevelopmental diseaseKATNAL2功能障碍损害微管动力学并导致综合征性神经发育疾病
deleteHuman Molecular Genetics
IF3.2
delete2026-10-21
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deleteEce Sönmezler; Semra Hız Kurul; Ozlem Erez; Burcu Ekinci; Tutku Yaraş; Leman Binokay; Gökhan Karakülah; Hanns Lochmüller; Rita Horvath; Ahmet Yaramış; Gulcin Cakan-Akdogan; Yavuz Oktay
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Droplet digital PCR as a first-line detection tool in the genetic diagnosis of vascular anomalies液滴数字PCR作为血管异常遗传诊断的一线检测工具
deleteHuman Molecular Genetics
IF3.2
delete2026-10-20
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deleteTara K Lane; Natasha J Brown; Timothy E Green; Denisse Garza; Michelle G de Silva; Mark F Bennett; Caitlin Tubb; Sian M W Macdonald; Adam Gascoigne; Roderic J Phillips; John Slavin; Colleen D’Arcy; Duncan MacGregor; Amelia Clifford; Lydia Pathmanathan; Susan J Robertson; Phillip Bekhor; Jodie Simpson; Samuel Gooley; Ingrid E Scheffer; Samuel F Berkovic; Anthony J Penington; Michael S Hildebrand
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Immune-related DNA methylation signatures, age prediction, and cross-tissue assessment via biologically informed neural networks基于生物信息神经网络的免疫相关DNA甲基化特征、年龄预测和组织间评估
deleteHuman Molecular Genetics
IF3.2
delete2026-10-20
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PREAI
deleteXi Cheng; Cuipei Wu; Xiaohe Yang; Rui Liu
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Parkinson’s disease-associated LRRK2 risk variant, G2385R, enhances Rab substrate phosphorylation and impairs neuronal integrity帕金森病相关LRRK2风险变异体G2385R增强Rab底物磷酸化并损害神经元完整性
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IF3.2
delete2026-10-06
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deleteAn Phu Tran Nguyen; Roger Moser; Nicole Bryant; Lindsey A Cunningham; Evan J Worden; Darren J Moore
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Pleiotropy and eQTL analysis identify shared genetic architecture of lipid traits in African-ancestry populations多效性和eQTL分析识别非洲血统人群中脂质性状的共享遗传结构
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IF3.2
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deleteKnightess Oyibo; Michael Zhong; Clement Adebamowo; Ananyo Choudhury; Segun Fatumo; Scott Hazelhurst; Braxton D Mitchell; Michele Ramsay; Bamidele Tayo; Yuji Zhang; Sally N Adebamowo
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Multidisciplinary pathogenicity assessment of congenital hypothyroidism-associated SLC5A5 gene variants先天性甲状腺功能减退症相关SLC5A5基因变异的多学科致病性评估
deleteHuman Molecular Genetics
IF3.2
delete2026-10-06
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PREAI
deleteSofía Savy; Gerardo Hernán Carro; Mariano Martín; Francisco Andrés Montes; Natalia Silvina Muñoz; Romina Celeste Geysels; Victoria Peyret; Ana María Masini-Repiso; Juan Pablo Nicola
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Molecular basis of mucopolysaccharidosis IVA in a large cohort: genotype–phenotype correlations and reporting of 12 novel GALNS variants黏多糖贮积症IVA型的分子基础：大样本队列的基因型-表型相关性及12个新型GALNS变异的报道
deleteHuman Molecular Genetics
IF3.2
delete2026-10-01
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PREAI
deleteXi Yin; Yiqi Qin; Xueying Su; Qianqian Deng; Chengxi Li; Xiaoyuan Zhao; Chunhua Zeng; Cuili Liang; Yanna Cai; Yongxian Shao; Yonglan Huang; Li Liu; Wen Zhang
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Shared genetic architecture of schizophrenia and lupus identifies pleiotropic loci with distinct downstream mechanisms精神分裂症和狼疮的共享遗传结构识别具有不同下游机制的多效性位点
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IF3.2
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deleteChen Gong; Nick Dand; Amy W Butler; Ariella Amar; Lu Liu; Pinelopi Maria Triantafyllou; David L Morris; Timothy J Vyse; null
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Motor dysfunction phenotypes in a drosophila model validate DAO as an ALS gene果蝇模型中的运动功能障碍表型证实DAO是ALS基因
deleteHuman Molecular Genetics
IF3.2
delete2026-09-29
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deleteSylvana Tabone; Rebecca Cacciottolo; Ruben J Cauchi
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Deep phenotyping of EHMT1 ankyrin repeat domain missense variants in Kleefstra syndrome by multi-tiered structural genomics analyses at atomic resolution通过原子分辨率的分层次结构基因组学分析对Kleefstra综合征中EHMT1锚蛋白重复结构域错义变异进行深度表型分析
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IF3.2
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deleteKarina L Bursch; Young-In Chi; Jacob Licklider; Davin R Jensen; Audrey E Catlin; Michael T Zimmermann; Gwen Lomberk; Raul A Urrutia; Brian C Smith; null
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MEF2C promoter variants in patent ductus arteriosus: a genetic and functional studyMEF2C启动子变异在动脉导管未闭中的作用：一项遗传与功能研究
deleteHuman Molecular Genetics
IF3.2
delete2026-09-26
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PREAI
deleteShao-Jie Wang; Huan-Xin Chen; Qin Yang; Guo-Wei He
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Explaining the unexplained admixture mapping signals via rare variants: the HCHS/SOL通过稀有变异解释无法解释的混血图谱信号：HCHS/SOL
deleteHuman Molecular Genetics
IF3.2
delete2026-09-25
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deleteXueying Chen; Maria Argos; Bing Yu; Eric Boerwinkle; Qibin Qi; Robert Kaplan; Nora Franceschini; Tamar Sofer
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Optical genome mapping identifies cryptic balanced chromosomal rearrangements in karyotypically normal couples with recurrent pregnancy loss or adverse pregnancy history光学基因组图谱鉴定出核型正常、有复发性流产或不良孕产史的夫妇中隐匿的平衡染色体重排
deleteHuman Molecular Genetics
IF3.2
delete2026-09-19
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PREAI
deleteLijuan Wang; Ming Gao; Jiahui Ma; Kexin Shi; Ziyu Wei; Qian Sun; Xiaowei Chen; Sexin Huang; Yang Zou; Peiwen Xu; Wenkai Ji; Bingqing Zhao; Keliang Wu; Junhao Yan; Xuan Gao; Zi-Jiang Chen; Xia Luo; Yuan Gao
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Mutation rate estimates and somatic variants from cancer improve variant interpretation in epilepsy癫痫中癌症的突变率估计和体细胞变体可改善变异解读
deleteHuman Molecular Genetics
IF3.2
delete2026-09-18
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PREAI
deleteChristian M Boßelmann; Patrick May
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Cell-type-specific dysregulated gene expression in the frontal cortex of an Angelman syndrome pig modelAngelman综合征猪模型前额叶皮层中细胞类型特异性失调基因表达
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IF3.2
delete2026-09-18
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deleteAshley Coffell; Livia Schuller; Sarah Christian; Scott V Dindot
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Coding, modifier, and regulatory effects shape circulating APOL1 levels编码、修饰和调控效应塑造循环APOL1水平
deleteHuman Molecular Genetics
IF3.2
delete2026-09-18
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deleteWalt E Adamson; Harry Noyes; John Ogunsola; Rulan S Parekh; Anneli Cooper; Annette MacLeod
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Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts遗传和表观遗传因素对裂侧性的贡献：来自单卵镜像双胞胎和重复队列的证据
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IF3.2
delete2026-09-11
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deleteAline L Petrin; Waheed Awotoye; Christina E Spencer; Ligiane A Machado-Paula; Luke Hovey; Henry Keen; Michael Chimenti; Patrick Breheny; Fang Qian; Shareef Dabdoub; James C Thomas; Azeez Butali; Jeffrey C Murray; Shankar Rengasamy Venugopalan; Lina M Moreno-Uribe
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Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population对同质且研究不足人群中疑似46,XY性发育差异个体的分子分析
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IF3.2
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deleteFirman P Idris; Tara Hussein Tayeb; Gorjana Robevska; Khalid Hama Salih H Sharef; Dalya Bikhtiyar Jalal; Jocelyn van den Bergen; Gabby Atlas; Katrina M Bell; Tiong Yang Tan; Andrew H Sinclair; Katie L Ayers
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