Hum Genet

期刊全称Hum Genet
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期刊相关文献 (19)

Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37

脊髓小脑性共济失调37型中新的基因型-表型相关性、小脑等位基因特异性甲基化差异以及(ATTTC)n插入的共同起源

期刊:Hum Genet
影响因子:3.800
doi:10.1007/s00439-024-02644-7.
Marina Sanchez-Flores #,Marc Corral-Juan #,Esther Gasch-Navalón,Davide Cirillo,Ivelisse Sanchez,Antoni Matilla-Dueñas
DNA甲基化
DNA甲基化
发表日期：2024
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Regulation potential of transcribed simple repeated sequences in developing neurons

转录的简单重复序列在发育神经元中的调控潜力

期刊:Hum Genet
影响因子:3.800
doi:10.1007/s00439-023-02626-1
Tek Hong Chung ，Anna Zhuravskaya ，Eugene V Makeyev
发表日期：2024
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oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids

oFlowSeq：一种利用嵌合型 CRISPR-Cas9 编辑的脑类器官来识别影响细胞类型富集的蛋白质编码突变的定量方法

期刊:Hum Genet
影响因子:3.800
doi:10.1007/s00439-023-02534-4
Pepper Dawes ，Liam F Murray ，Meagan N Olson ，Nathaniel J Barton ，Molly Smullen ，Madhusoodhanan Suresh ，Guang Yan ，Yucheng Zhang ，Aria Fernandez-Fontaine ，Jay English ，Mohammed Uddin ，ChangHui Pak ，George M Church ，Yingleong Chan ，Elaine T Lim
发表日期：2023
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COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study

COCH相关常染色体显性非综合征性听力损失：表型-基因型研究

期刊:Hum Genet
影响因子:3.800
doi:PMC8924011
Kyung Seok Oh #，Daniel Walls #，Sun Young Joo，Jung Ah Kim，Jee Eun Yoo，Young Ik Koh，Da Hye Kim，John Hoon Rim，Hye Ji Choi，Hye-Youn Kim，Seyoung Yu，Richard J Smith # ，Jae Young Choi #，Heon Yung Gee #，Jinsei Jung #    0
发表日期：2022
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Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

变异特异性效应定义了男性HNRNPH2相关神经发育障碍的表型谱。

期刊:Hum Genet
影响因子:3.800
doi:10.1007/s00439-021-02412-x.
Hans-Jürgen Kreienkamp ,Matias Wagner ,Heike Weigand ,Allyn McConkie-Rossell ,Marie McDonald ,Boris Keren ,Cyril Mignot ,Julie Gauthier ,Jean-François Soucy ,Jacques L Michaud ,Meghan Dumas ,Rosemarie Smith ,Ulrike Löbel ,Maja Hempel ,Christian Kubisch ,Jonas Denecke ,Philippe M Campeau ,Jennifer M Bain ,Davor Lessel
神经科学
发表日期：2022
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NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases

NGS和基于表型本体的方法提高了综合征性视网膜疾病的诊断率

期刊:Hum Genet
影响因子:3.800
doi:10.1007/s00439-021-02343-7.
I Perea-Romero ,F Blanco-Kelly ,I Sanchez-Navarro ,I Lorda-Sanchez ,S Tahsin-Swafiri ,A Avila-Fernandez ,I Martin-Merida ,M J Trujillo-Tiebas ,R Lopez-Rodriguez ,M Rodriguez de Alba ,I F Iancu ,R Romero ,M Quinodoz ,H Hakonarson ,Blanca Garcia-Sandova ,P Minguez ,M Corton ,C Rivolta ,C Ayuso
发表日期：2021
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AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect

AP1S1错义突变通过上皮屏障缺陷导致先天性肠病。

期刊:Hum Genet
影响因子:3.800
doi:PMC7497319
Katharina M C Klee，Andreas R Janecke，Hasret A Civan，Štefan Rosipal，Peter Heinz-Erian，Lukas A Huber，Thomas Müller，Georg F Vogel
AP1S1
发表日期：2020
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Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3

MYRF基因中新的截断突变导致常染色体显性遗传高度远视，该突变定位于11p12-q13.3区域。

期刊:Hum Genet
影响因子:3.800
doi:PMC6745028
Xueshan Xiao，Wenmin Sun，Jiamin Ouyang，Shiqiang Li，Xiaoyun Jia，Zhiqun Tan，J Fielding Hejtmancik，Qingjiong Zhang
发表日期：2019
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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders

通过全外显子组测序探索初诊为鲁宾斯坦-泰比综合征的患者：表观遗传机制紊乱的相互联系

期刊:Hum Genet
影响因子:3.800
doi:10.1007/s00439-019-01985-y.
Gloria Negri ,Pamela Magini ,Donatella Milani ,Milena Crippa ,Elisa Biamino ,Maria Piccione ,Stefano Sotgiu ,Chiara Perrìa ,Giuseppina Vitiello ,Marina Frontali ,Antonella Boni ,Elisabetta Di Fede ,Maria Chiara Gandini ,Elisa Adele Colombo ,Michael J Bamshad ,Deborah A Nickerson ,Joshua D Smith ,Italia Loddo ,Palma Finelli ,Marco Seri ,Tommaso Pippucci ,Lidia Larizza ,Cristina Gervasini
表观遗传
发表日期：2019
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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

同一基因位点上拷贝数变异（CNV）和单核苷酸多态性（SNP）的共存会导致SNP与疾病关联显著性计算出现偏差。

期刊:Hum Genet
影响因子:3.800
doi:10.1007/s00439-018-1910-3.
Jiaqi Liu,Yangzhong Zhou,Sen Liu,Xiaofei Song,Xin-Zhuang Yang,Yanhui Fan,Weisheng Chen,Zeynep Coban Akdemir,Zihui Yan,Yuzhi Zuo,Renqian Du,Zhenlei Liu,Bo Yuan,Sen Zhao,Gang Liu,Yixin Chen,Yanxue Zhao,Mao Lin,Qiankun Zhu,Yuchen Niu,Pengfei Liu,Shiro Ikegawa,You-Qiang Song,Jennifer E Posey,Guixing Qiu,Nan Wu
发表日期：2018
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