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29 results for Fan,+Yanjie

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ArticlesPeer ReviewedFull Text
ADF/cofilin-mediated actin dynamics regulate AMPA receptor trafficking during synaptic plasticity
Author / Creator:Gu, Jiaping ; Lee, Chi Wai ; Fan, Yanjie ; Komlos, Daniel ; Tang, Xin ; Sun, Chicheng ; Yu, Kuai ; Hartzell, H Criss ; Chen, Gong ; Bamburg, James R ; Zheng, James Q
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2010-10, Vol.13 (10), p.1208-1215
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Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants
Author / Creator:Luo, Xiaomei ; Xiao, Bing ; Liang, Lili ; Zhang, Kaichuang ; Xu, Ting ; Liu, Huili ; Liu, Yi ; Yu, Yongguo ; Fan, Yanjie
Publisher:England: BioMed Central Ltd
Journal title:Journal of translational medicine, 2025-05, Vol.23 (1), p.586-14, Article 586
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Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders
Author / Creator:Xiao, Bing ; Luo, Xiaomei ; Liu, Yi ; Ye, Hui ; Liu, Huili ; Fan, Yanjie ; Yu, Yongguo
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2024-09, Vol.16 (1), p.113-12, Article 113
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A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
Author / Creator:Zhao, Yining ; Fang, Xiaoliang ; He, Lei ; Fan, Yanjie ; Li, Yueyan ; Xu, Guofeng ; Yu, Yongguo ; Geng, Hongquan
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:World journal of urology, 2022-05, Vol.40 (5), p.1211-1216
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A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes
Author / Creator:Xu, Na ; Lv, Hui ; Yang, Tingting ; Du, Xiujuan ; Sun, Yu ; Xiao, Bing ; Fan, Yanjie ; Luo, Xiaomei ; Zhan, Yongkun ; Wang, Lili ; Li, Fei ; Yu, Yongguo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.335-12, Article 335
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Chronic Neuroinflammation Induced by Lipopolysaccharide Injection into the Third Ventricle Induces Behavioral Changes
Author / Creator:Na, Shufang ; Duan, Xuejiao ; Wang, Rongyan ; Fan, Yanjie ; Xue, Ke ; Tian, Shuwei ; Yang, Zheqiong ; Li, Ke ; Yue, Jiang
Publisher:New York: Springer US
Journal title:Journal of molecular neuroscience, 2021-06, Vol.71 (6), p.1306-1319
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Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports
Author / Creator:Luo, Xiaomei ; Hu, Jiacheng ; Gao, Xueren ; Fan, Yanjie ; Sun, Yu ; Gu, Xuefan ; Qiu, Wenjuan
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2020-04, Vol.21 (1), p.74-74, Article 74
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Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays
Author / Creator:Fan, Yanjie ; Wang, Lili ; Sun, Yu ; Xu, Ting ; Gong, Zhuwen ; Zhao, Qianfeng ; Qiu, Wenjuan ; Liang, Lili ; Xiao, Bing ; Zhang, Huiwen ; Han, Lianshu ; Lin, Fujun ; Xu, Rang ; Gu, Xuefan ; Yu, Yongguo
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-04, Vol.66 (4), p.409-417
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Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis
Author / Creator:Zhao, Yining ; Fang, Xiaoliang ; Fan, Yanjie ; Sun, Yu ; He, Lei ; Xu, Maosheng ; Xu, Guofeng ; Li, Yufeng ; Huang, Yunteng ; Yu, Yongguo ; Geng, Hongquan
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:World journal of urology, 2021-07, Vol.39 (7), p.2759-2765
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Actin capping protein regulates postsynaptic spine development through CPI-motif interactions
Author / Creator:Myers, Kenneth R. ; Fan, Yanjie ; McConnell, Patrick ; Cooper, John A. ; Zheng, James Q.
Publisher:Lausanne: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2022-09, Vol.15, p.1020949-1020949
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A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
Author / Creator:Zhang, Xia ; Fan, Yanjie ; Liu, Xiaomin ; Zhu, Ming-Ang ; Sun, Yu ; Yan, Hui ; He, Yunjuan ; Ye, Xiantao ; Gu, Xuefan ; Yu, Yongguo
Publisher:Turkey: Galenos Yayinevi Tic. Ltd
Journal title:Journal of clinical research in pediatric endocrinology, 2019-12, Vol.11 (4), p.419-425
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Development and external validation of a COVID-19 mortality risk prediction algorithm: a multicentre retrospective cohort study
Author / Creator:Mei, Jin ; Hu, Weihua ; Chen, Qijian ; Li, Chang ; Chen, Zaishu ; Fan, Yanjie ; Tian, Shuwei ; Zhang, Zhuheng ; Li, Bin ; Ye, Qifa ; Yue, Jiang ; Wang, Qiao-Li
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ open, 2020-12, Vol.10 (12), p.e044028-e044028
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Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study
Author / Creator:Huang, Zhuo ; Sun, Yu ; Fan, Yanjie ; Wang, Lili ; Liu, Huili ; Gong, Zhuwen ; Wang, Jianguo ; Yan, Hui ; Wang, Yu ; Hu, Guorui ; Wang, Ruifang ; Ye, Jun ; Han, Lianshu ; Qiu, Wenjuan ; Zhang, Huiwen ; Liang, Lili ; Yang, Yu ; Dauber, Andrew ; Yu, Yongguo ; Gu, Xue-Fan
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cellular physiology and biochemistry, 2018-01, Vol.49 (1), p.295-305
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Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
Author / Creator:Fan, Yanjie ; Wu, Yanming ; Wang, Lili ; Wang, Yu ; Gong, Zhuwen ; Qiu, Wenjuan ; Wang, Jingmin ; Zhang, Huiwen ; Ji, Xing ; Ye, Jun ; Han, Lianshu ; Jin, Xingming ; Shen, Yongnian ; Li, Fei ; Xiao, Bing ; Liang, Lili ; Zhang, Xia ; Liu, Xiaomin ; Gu, Xuefan ; Yu, Yongguo
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2018-05, Vol.11 (1), p.49-49, Article 49
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Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders
Author / Creator:Xu, Shanshan ; Fan, Yanjie ; Sun, Yu ; Wang, Lili ; Gu, Xuefan ; Yu, Yongguo
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2017-10, Vol.10 (1), p.62-62, Article 62
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Identification of RUNX2 variants associated with cleidocranial dysplasia
Author / Creator:Gao, Xueren ; Li, Kunxia ; Fan, Yanjie ; Sun, Yu ; Luo, Xiaomei ; Wang, Lili ; Liu, Huili ; Gong, Zhuwen ; Wang, Jianguo ; Wang, Yu ; Gu, Xuefan ; Yu, Yongguo
Publisher:England: BioMed Central
Journal title:Hereditas, 2019-09, Vol.156 (1), p.31-31, Article 31
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Uniparental isodisomy caused autosomal recessive diseases: NGS‐based analysis allows the concurrent detection of homogenous variants and copy‐neutral loss of heterozygosity
Author / Creator:Xiao, Bing ; Wang, Lili ; Liu, Huili ; Fan, Yanjie ; Xu, Yan ; Sun, Yu ; Qiu, Wenjuan
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-10, Vol.7 (10), p.e00945-n/a
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A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome
Author / Creator:Gao, Xueren ; Huang, Zhuo ; Fan, Yanjie ; Sun, Yu ; Liu, Huili ; Wang, Lili ; Gu, Xue-Fan ; Yu, Yongguo
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cellular physiology and biochemistry, 2018-01, Vol.47 (6), p.2388-2395
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A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations
Author / Creator:Dai, Weiqian ; Sun, Yu ; Fan, Yanjie ; Gao, Yan ; Zhan, Yongkun ; Wang, Lili ; Xiao, Bing ; Qiu, Wenjuan ; Gu, Xuefan ; Sun, Kun ; Yu, Yongguo ; Xu, Na
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2023-01, Vol.31 (1), p.112-121
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High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study
Author / Creator:Sun, Yu ; Ye, Xiantao ; Fan, Yanjie ; Wang, Lili ; Luo, Xiaomei ; Liu, Huili ; Gao, Xueren ; Gong, Zhuwen ; Wang, Yu ; Qiu, Wenjuan ; Zhang, Huiwen ; Han, Lianshu ; Liang, Lili ; Ye, Hui ; Xiao, Bing ; Gu, Xuefan ; Yu, Yongguo
Publisher:England: American Association for Clinical Chemistry, Inc
Journal title:Clinical chemistry (Baltimore, Md.), 2020-03, Vol.66 (3), p.455-462
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Showing 1 to 20 of 29 results

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ADF/cofilin-mediated actin dynamics regulate AMPA receptor trafficking during synaptic plasticity

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Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants

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Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders

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A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses

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A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

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Chronic Neuroinflammation Induced by Lipopolysaccharide Injection into the Third Ventricle Induces Behavioral Changes

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Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports

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Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays

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Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis

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Actin capping protein regulates postsynaptic spine development through CPI-motif interactions

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A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

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Development and external validation of a COVID-19 mortality risk prediction algorithm: a multicentre retrospective cohort study

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Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study

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Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

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Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

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Identification of RUNX2 variants associated with cleidocranial dysplasia

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Uniparental isodisomy caused autosomal recessive diseases: NGS‐based analysis allows the concurrent detection of homogenous variants and copy‐neutral loss of heterozygosity

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A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome

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A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations

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High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study

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