Year |
Citation |
Score |
2024 |
Yang F, Zhao Z, Zhang D, Xiong Y, Dong X, Wang Y, Yang M, Pan T, Liu C, Liu K, Lin Y, Liu Y, Tu Q, Dang Y, Xia M, ... ... Zhou W, et al. Single-cell multi-omics analysis of lineage development and spatial organization in the human fetal cerebellum. Cell Discovery. 10: 22. PMID 38409116 DOI: 10.1038/s41421-024-00656-1 |
0.52 |
|
2024 |
Wang X, Xiao T, Wang J, Wu B, Wang H, Lu Y, Wang Y, Chen B, Hu L, Cao Y, Zhang R, Cheng G, Wang L, Li Z, Dong X, ... ... Zhou W, et al. Clinical and genetic risk factors associated with neonatal severe hyperbilirubinemia: a case-control study based on the China Neonatal Genomes Project. Frontiers in Genetics. 14: 1292921. PMID 38274110 DOI: 10.3389/fgene.2023.1292921 |
0.583 |
|
2023 |
Ji X, Ge Y, Ni Q, Xu S, Xiong Z, Yang L, Hu L, Cao Y, Lu Y, Wei Q, Kang W, Zhuang D, Zhou W, Dong X. Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening. Frontiers in Genetics. 14: 1304458. PMID 38125748 DOI: 10.3389/fgene.2023.1304458 |
0.585 |
|
2023 |
Xiao H, Chen H, Chen X, Lu Y, Wu B, Wang H, Cao Y, Hu L, Dong X, Zhou W, Yang L. Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis. Genome Medicine. 15: 112. PMID 38093364 DOI: 10.1186/s13073-023-01268-2 |
0.608 |
|
2023 |
Huang Z, Liu B, Xiao T, Wang Y, Lu Y, Hu L, Cheng G, Li Z, Wang L, Zhang R, Wang J, Cao Y, Dong X, Yang L, Zhou W. Neurodevelopmental Outcomes Prediction in Newborns with Seizures Caused by KCNQ2 Gene Defects. Neonatology. 1-9. PMID 38043515 DOI: 10.1159/000534605 |
0.588 |
|
2023 |
Huang Z, Shen Q, Wu B, Wang H, Dong X, Lu Y, Cheng G, Wang L, Lu W, Chen L, Kang W, Li L, Pan X, Wei Q, Zhuang D, ... ... Zhou W, et al. Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project. Kidney International Reports. 8: 2376-2384. PMID 38025242 DOI: 10.1016/j.ekir.2023.08.005 |
0.6 |
|
2023 |
Xiao F, Wu B, Dong C, Cheng G, Cao Y, Wang L, Dong X, Lu Y, Yang L, Chen L, Li L, Pan X, Wei Q, Zhuang D, Chen D, ... ... Zhou W, et al. Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project. Human Genetics. PMID 37938362 DOI: 10.1007/s00439-023-02612-7 |
0.636 |
|
2023 |
Zhu Y, Gan M, Ge M, Dong X, Yan G, Zhou Q, Yu H, Wang X, Cao Y, Lu G, Wu B, Zhou W. Correction for Zhu et al., "Diagnostic Performance and Clinical Impact of Metagenomic Next-Generation Sequencing for Pediatric Infectious Diseases". Journal of Clinical Microbiology. e0115023. PMID 37882525 DOI: 10.1128/jcm.01150-23 |
0.529 |
|
2023 |
Dong X, Lu Y, Guo L, Li C, Ni Q, Wu B, Wang H, Yang L, Wu S, Sun Q, Zheng H, Zhou W, Wang S. PICOTEES: a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants from Chinese children cohorts. Journal of Genetics and Genomics = Yi Chuan Xue Bao. PMID 37714454 DOI: 10.1016/j.jgg.2023.09.003 |
0.573 |
|
2023 |
Chen YX, Xiao TT, Chen HY, Chen X, Wang YQ, Ni Q, Wu BB, Wang HJ, Lu YL, Hu LY, Cao Y, Cheng GQ, Wang LS, Xiao FF, Yang L, ... ... Zhou WH, et al. Risk stratification of hemodynamically significant patent ductus arteriosus by clinical and genetic factors. World Journal of Pediatrics : Wjp. PMID 37318723 DOI: 10.1007/s12519-023-00733-7 |
0.56 |
|
2023 |
Zhu Y, Gan M, Ge M, Dong X, Yan G, Zhou Q, Yu H, Wang X, Cao Y, Lu G, Wu B, Zhou W. Diagnostic Performance and Clinical Impact of Metagenomic Next-Generation Sequencing for Pediatric Infectious Diseases. Journal of Clinical Microbiology. e0011523. PMID 37260394 DOI: 10.1128/jcm.00115-23 |
0.555 |
|
2023 |
Wang X, Gan M, Dong X, Lu Y, Zhou W. An Integrated Pipeline for Trio-Rapid Genome Sequencing in Critically Ill Infants. Current Protocols. 3: e706. PMID 36971344 DOI: 10.1002/cpz1.706 |
0.599 |
|
2023 |
Xiao FF, Lu YL, Wu BB, Dong XR, Cheng GQ, Hu LY, Zhou WH, Peng XM, Yang L, Wang HJ. [Clinical practice of whole-genome sequencing in the rapid diagnosis of critically ill neonates]. Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics. 25: 135-139. PMID 36854688 DOI: 10.7499/j.issn.1008-8830.2210096 |
0.573 |
|
2023 |
Chen X, Chen Y, Yan K, Chen H, Qin Q, Yang L, Liu B, Cheng G, Cao Y, Wu B, Dong X, Qiao Z, Zhou W. Genetic background of idiopathic neurodevelopmental delay patients with significant brain deviation volume. Chinese Medical Journal. PMID 36806579 DOI: 10.1097/CM9.0000000000002297 |
0.571 |
|
2023 |
Luo Z, Xin D, Liao Y, Berry K, Ogurek S, Zhang F, Zhang L, Zhao C, Rao R, Dong X, Li H, Yu J, Lin Y, Huang G, Xu L, ... ... Zhou W, et al. Loss of phosphatase CTDNEP1 potentiates aggressive medulloblastoma by triggering MYC amplification and genomic instability. Nature Communications. 14: 762. PMID 36765089 DOI: 10.1038/s41467-023-36400-8 |
0.528 |
|
2022 |
Xiao T, Dong X, Lu Y, Zhou W. High-Resolution and Multidimensional Phenotypes Can Complement Genomics Data to Diagnose Diseases in the Neonatal Population. Phenomics (Cham, Switzerland). 3: 204-215. PMID 37197647 DOI: 10.1007/s43657-022-00071-0 |
0.574 |
|
2022 |
Luo Z, Xia M, Shi W, Zhao C, Wang J, Xin D, Dong X, Xiong Y, Zhang F, Berry K, Ogurek S, Liu X, Rao R, Xing R, Wu LMN, ... ... Zhou W, et al. Human fetal cerebellar cell atlas informs medulloblastoma origin and oncogenesis. Nature. PMID 36450980 DOI: 10.1038/s41586-022-05487-2 |
0.541 |
|
2022 |
Chen H, Chen X, Hu L, Ye C, Zhang J, Cheng G, Yang L, Lu Y, Dong X, Zhou W. Rare-variant collapsing analyses identified risk genes for neonatal acute respiratory distress syndrome. Computational and Structural Biotechnology Journal. 20: 5047-5053. PMID 36187926 DOI: 10.1016/j.csbj.2022.08.055 |
0.61 |
|
2022 |
Peng X, Dong X, Wang Y, Wu B, Wang H, Lu W, Xiao F, Yang L, Li G, Zhou W, Liu B, Lu Y. Overcoming the pitfalls of NGS-based molecular diagnosis of Shwachman-Diamond syndrome. The Journal of Molecular Diagnostics : Jmd. PMID 36162759 DOI: 10.1016/j.jmoldx.2022.09.002 |
0.596 |
|
2022 |
Tang M, Chen X, Ni Q, Lu Y, Wu B, Wang H, Yin Z, Zhou W, Dong X. Estimation of hereditary fructose intolerance prevalence in the Chinese population. Orphanet Journal of Rare Diseases. 17: 326. PMID 36028839 DOI: 10.1186/s13023-022-02487-3 |
0.53 |
|
2022 |
Guo Q, Wang Y, Wang Q, Qian Y, Jiang Y, Dong X, Chen H, Chen X, Liu X, Yu S, Zhu J, Shan S, Wu B, Zhou W, Wang H. In the developing cerebral cortex: axonogenesis, synapse formation, and synaptic plasticity are regulated by SATB2 target genes. Pediatric Research. PMID 36028553 DOI: 10.1038/s41390-022-02260-z |
0.542 |
|
2022 |
Xiao T, Wang J, Wang H, Mei H, Dong X, Lu Y, Cheng G, Wang L, Hu L, Lu W, Ni Q, Li G, Zhang P, Qian Y, Li X, ... ... Zhou W, et al. Aetiology and outcomes of prolonged neonatal jaundice in tertiary centres: data from the China Neonatal Genome Project. Archives of Disease in Childhood. Fetal and Neonatal Edition. PMID 35851034 DOI: 10.1136/archdischild-2021-323413 |
0.534 |
|
2022 |
Zhu Y, Hu L, Yang L, Wang L, Lu Y, Dong X, Xiao T, Xu Z, Wu B, Zhou W. Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit. Jama Network Open. 5: e2220986. PMID 35816303 DOI: 10.1001/jamanetworkopen.2022.20986 |
0.532 |
|
2022 |
Jiang X, Dong X, Zhou W. [Neurodevelopmental disorders associated with variants of GRIN gene family]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics. 39: 783-787. PMID 35810443 DOI: 10.3760/cma.j.cn511374-20210311-00221 |
0.562 |
|
2022 |
Xiao H, Zhang JT, Dong XR, Lu YL, Wu BB, Wang HJ, Zhao ZY, Yang L, Zhou WH. Secondary genomic findings in the 2020 China Neonatal Genomes Project participants. World Journal of Pediatrics : Wjp. PMID 35727495 DOI: 10.1007/s12519-022-00558-w |
0.558 |
|
2022 |
Ye C, Mei H, Chen H, Dong X, Lu Y, Wu B, Wang H, Hu L, Cheng G, Zhou W, Yang L. Molecular Genetic Analysis of Newborns with Congenital Microcephaly. Neonatology. 1-9. PMID 35709690 DOI: 10.1159/000525073 |
0.601 |
|
2022 |
Wang H, Xiao F, Qian Y, Wu B, Dong X, Lu Y, Cheng G, Wang L, Yan K, Yang L, Chen L, Kang W, Li L, Pan X, Wei Q, ... ... Zhou W, et al. Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project. Journal of Medical Genetics. PMID 35595280 DOI: 10.1136/jmedgenet-2021-108354 |
0.589 |
|
2022 |
Xiao T, Chen X, Xu Y, Chen H, Dong X, Yang L, Wu B, Chen L, Li L, Zhuang D, Chen D, Zhou Y, Wang H, Zhou W. Clinical Study of 30 Novel Variants/Deletions in -Related Disorders. Frontiers in Molecular Neuroscience. 15: 809810. PMID 35557555 DOI: 10.3389/fnmol.2022.809810 |
0.596 |
|
2022 |
Ni Q, Chen X, Zhang P, Yang L, Lu Y, Xiao F, Wu B, Wang H, Zhou W, Dong X. Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians. Orphanet Journal of Rare Diseases. 17: 129. PMID 35313924 DOI: 10.1186/s13023-022-02279-9 |
0.565 |
|
2022 |
Chen X, Chen T, Dong C, Chen H, Dong X, Yang L, Hu L, Wang H, Wu B, Yao Y, Xiong Y, Xiong M, Lin Y, Zhou W. Deletion of CHD8 in cerebellar granule neuron progenitors leads to severe cerebellar hypoplasia, ataxia and psychiatric behavior in mice. Journal of Genetics and Genomics = Yi Chuan Xue Bao. PMID 35231638 DOI: 10.1016/j.jgg.2022.02.011 |
0.567 |
|
2022 |
Liu X, Dong C, Liu K, Chen H, Liu B, Dong X, Qian Y, Wu B, Lin Y, Wang H, Yang L, Zhou W. mTOR pathway repressing expression of FoxO3 is a potential mechanism involved in neonatal white matter dysplasia. Human Molecular Genetics. PMID 35220433 DOI: 10.1093/hmg/ddac049 |
0.539 |
|
2022 |
Xiao T, Ni Q, Chen H, Wang H, Yang L, Wu B, Cao Y, Cheng G, Wang L, Hu L, Mei H, Lu Y, Gong M, Dong X, Zhou W. High-risk phenotypes of genetic disease in a Neonatal Intensive Care Unit population. Chinese Medical Journal. PMID 35026772 DOI: 10.1097/CM9.0000000000001959 |
0.576 |
|
2021 |
Chen X, Chen Y, Xiao T, Dong X, Lu Y, Qian Y, Wang H, Zhou W. CYP2C9*3 Increases the Ibuprofen Response of Hemodynamically Significant Patent Ductus Arteriosus in the Infants with Gestational Age of More Than 30 Weeks. Phenomics (Cham, Switzerland). 2: 72-77. PMID 36939774 DOI: 10.1007/s43657-021-00028-9 |
0.522 |
|
2021 |
Li W, Cheng T, Dong X, Chen H, Yang L, Qiu Z, Zhou W. KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice. Pediatric Research. PMID 34966180 DOI: 10.1038/s41390-021-01922-8 |
0.57 |
|
2021 |
Mei H, Dong X, Wu B, Wang H, Lu Y, Hu L, Wang J, Cao Y, Zhang R, Cheng G, Wang L, Li Z, Yang L, Zhou W. Clinical and genetic etiologies of neonatal unconjugated hyperbilirubinemia in the China Neonatal Genomes Project. The Journal of Pediatrics. PMID 34953813 DOI: 10.1016/j.jpeds.2021.12.038 |
0.613 |
|
2021 |
Xia M, Chen H, Chen T, Xue P, Dong X, Lin Y, Ma D, Zhou W, Shi W, Li H. Transcriptional Networks Identify BRPF1 as a Potential Drug Target Based on Inflammatory Signature in Primary Lower-Grade Gliomas. Frontiers in Oncology. 11: 766656. PMID 34926268 DOI: 10.3389/fonc.2021.766656 |
0.532 |
|
2021 |
Mei H, Yang L, Xiao T, Wang S, Wu B, Wang H, Lu Y, Dong X, Yang H, Zhou W. Genetic Spectrum Identified by Exome Sequencing in a Chinese Pediatric Cerebral Palsy Cohort. The Journal of Pediatrics. PMID 34788679 DOI: 10.1016/j.jpeds.2021.11.019 |
0.597 |
|
2021 |
Ma H, Tang Z, Xiao F, Li L, Li Y, Tang W, Chen L, Kang W, Lu Y, Dong X, Cheng G, Wang L, Lu W, Yang L, Ni Q, ... ... Zhou W, et al. Neonatal Metabolic Acidosis in the Neonatal Intensive Care Unit: What Are the Genetic Causes? Frontiers in Pediatrics. 9: 727301. PMID 34733806 DOI: 10.3389/fped.2021.727301 |
0.638 |
|
2021 |
Yang L, Wei Z, Chen X, Hu L, Peng X, Wang J, Lu C, Kong Y, Dong X, Ni Q, Lu Y, Wu B, Wang H, Meirelles K, Tian X, ... ... Zhou W, et al. Use of medical exome sequencing for identification of underlying genetic defects in NICU: experience in a cohort of 2,303 neonates in China. Clinical Genetics. PMID 34671977 DOI: 10.1111/cge.14075 |
0.6 |
|
2021 |
Dong X, Kong Y, Xu Y, Zhou Y, Wang X, Xiao T, Chen B, Lu Y, Cheng G, Zhou W. Development and validation of Auto-Neo-electroencephalography (EEG) to estimate brain age and predict report conclusion for electroencephalography monitoring data in neonatal intensive care units. Annals of Translational Medicine. 9: 1290. PMID 34532427 DOI: 10.21037/atm-21-1564 |
0.519 |
|
2021 |
Dai D, Chen H, Dong X, Chen J, Mei M, Lu Y, Yang L, Wu B, Cao Y, Wang J, Zhou W, Qian L. Bronchopulmonary Dysplasia Predicted by Developing a Machine Learning Model of Genetic and Clinical Information. Frontiers in Genetics. 12: 689071. PMID 34276789 DOI: 10.3389/fgene.2021.689071 |
0.566 |
|
2021 |
Mei HF, Dong XR, Chen HY, Lu YL, Wu BB, Wang HJ, Cheng GQ, Wang LS, Cao Y, Yang L, Zhou WH. Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort. World Journal of Pediatrics : Wjp. PMID 33914258 DOI: 10.1007/s12519-021-00429-w |
0.604 |
|
2021 |
Luo Z, Dong X, Yu J, Xia Y, Berry KP, Rao R, Xu L, Xue P, Chen T, Lin Y, Yu J, Huang G, Li H, Zhou W, Lu QR. Genomic and Transcriptomic Analyses Reveals ZNF124 as a Critical Regulator in Highly Aggressive Medulloblastomas. Frontiers in Cell and Developmental Biology. 9: 634056. PMID 33681213 DOI: 10.3389/fcell.2021.634056 |
0.603 |
|
2021 |
Dong X, Yang L, Liu K, Ji X, Tang C, Li W, Ma L, Mei Y, Peng T, Feng B, Wu Z, Tang Q, Gao Y, Yan K, Zhou W, et al. Transcriptional networks identify synaptotagmin-like 3 as a regulator of cortical neuronal migration during early neurodevelopment. Cell Reports. 34: 108802. PMID 33657377 DOI: 10.1016/j.celrep.2021.108802 |
0.512 |
|
2021 |
Peng X, Lu Y, Wu B, Dong X, Li W, Wang H, Huang Y, Zhou W. A novel 333 bp deletion of IL10RA in Chinese patients with neonatal-onset inflammatory bowel disease. Journal of Clinical Immunology. PMID 33591424 DOI: 10.1007/s10875-021-00973-0 |
0.55 |
|
2021 |
Wang H, Xiao F, Dong X, Lu Y, Cheng G, Wang L, Lu W, Yang L, Chen L, Kang W, Li L, Pan X, Wei Q, Zhuang D, Chen D, ... ... Zhou W, et al. Diagnostic and clinical utility of next-generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project (CNGP). Human Mutation. PMID 33502061 DOI: 10.1002/humu.24170 |
0.635 |
|
2020 |
Liu B, Wu B, Lu Y, Zhang P, Xiao F, Li G, Wang H, Dong X, Liu R, Li Y, Xie X, Zhou W, Wang J, Lu Y. A novel recurrent 3.6-kb deletion in the PYGL gene contributes to glycogen storage disease type VI. The Journal of Molecular Diagnostics : Jmd. PMID 32961316 DOI: 10.1016/j.jmoldx.2020.08.006 |
0.609 |
|
2020 |
Yang L, Chen X, Liu X, Dong X, Ye C, Deng D, Lu Y, Lin Y, Zhou W. Clinical features and underlying genetic causes in neonatal encephalopathy: a large cohort study. Clinical Genetics. PMID 32712949 DOI: 10.1111/cge.13818 |
0.636 |
|
2020 |
Sun WH, Zhuang DY, Wang Y, Xiao FF, Wu MY, Dong XR, Zhang P, Wang HJ, Zhou WH, Wu BB. [Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families]. Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics. 22: 482-487. PMID 32434645 DOI: 10.7499/j.issn.1008-8830.2002012 |
0.592 |
|
2020 |
Sun J, Yang L, Lu Y, Wang H, Peng X, Dong X, Cheng G, Cao Y, Wu B, Wang X, Zhou W. Screening for primary immunodeficiency diseases by next-generation sequencing in early life. Clinical & Translational Immunology. 9: e1138. PMID 32431812 DOI: 10.1002/cti2.1138 |
0.55 |
|
2020 |
Zhang Y, Xu J, Jia R, Yi C, Gu W, Liu P, Dong X, Zhou H, Shang B, Cheng S, Sun X, Ye J, Li X, Zhang J, Ling Z, ... ... Zhou W, et al. Protective humoral immunity in SARS-CoV-2 infected pediatric patients. Cellular & Molecular Immunology. PMID 32382126 DOI: 10.1038/s41423-020-0438-3 |
0.49 |
|
2020 |
Sun WH, Wu BB, Wang YQ, Wu MY, Dong XR, Zhang YP, Lu W, Zhang P, Yang B, Zhang M, Wu HJ, Zhou WH. Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease. World Journal of Pediatrics : Wjp. PMID 32193832 DOI: 10.1007/s12519-020-00349-1 |
0.578 |
|
2020 |
Liu B, Lu Y, Wu B, Yang L, Liu R, Wang H, Dong X, Li G, Qin Q, Zhou W. SMN gene copy number analysis by exome-seq: assisting SMA diagnosis and carrier screening. The Journal of Molecular Diagnostics : Jmd. PMID 32092542 DOI: 10.1016/j.jmoldx.2020.01.015 |
0.597 |
|
2020 |
Dong X, Liu B, Yang L, Wang H, Wu B, Liu R, Chen H, Chen X, Yu S, Chen B, Wang S, Xu X, Zhou W, Lu Y. Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort. Journal of Medical Genetics. PMID 32005694 DOI: 10.1136/jmedgenet-2019-106377 |
0.58 |
|
2020 |
Wang H, Lu Y, Dong X, Lu G, Cheng G, Qian Y, Ni Q, Zhang P, Yang L, Wu B, Zhou W. Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China. Human Genetics. PMID 31965297 DOI: 10.1007/s00439-019-02103-8 |
0.629 |
|
2019 |
Yu S, Wu B, Qian Y, Zhang P, Lu Y, Dong X, Wang Q, Zhao X, Liu R, Zhou W, Wang H. Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly. Molecular Genetics & Genomic Medicine. e1009. PMID 31637876 DOI: 10.1002/mgg3.1009 |
0.622 |
|
2019 |
Liu X, Mei M, Chen X, Lu Y, Dong X, Hu L, Hu X, Cheng G, Cao Y, Yang L, Zhou W. Identification of genetic factors underlying persistent pulmonary hypertension of newborns in a cohort of Chinese neonates. Respiratory Research. 20: 174. PMID 31382961 DOI: 10.1186/s12931-019-1148-1 |
0.6 |
|
2019 |
Weng Q, Wang J, Wang J, He D, Cheng Z, Zhang F, Verma R, Xu L, Dong X, Liao Y, He X, Potter A, Zhang L, Zhao C, Xin M, ... ... Zhou W, et al. Single-Cell Transcriptomics Uncovers Glial Progenitor Diversity and Cell Fate Determinants during Development and Gliomagenesis. Cell Stem Cell. PMID 30982771 DOI: 10.1016/J.Stem.2019.03.006 |
0.532 |
|
2019 |
Kong Y, Yan K, Hu L, Wang M, Dong X, Lu Y, Wu B, Wang H, Yang L, Zhou W. Data on mutations and Clinical features in SCN1A or SCN2A gene. Data in Brief. 22: 492-501. PMID 30619928 DOI: 10.1016/j.dib.2018.08.122 |
0.575 |
|
2018 |
Qian Y, Wu B, Lu Y, Dong X, Qin Q, Zhou W, Wang H. Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation. Cold Spring Harbor Molecular Case Studies. PMID 30455226 DOI: 10.1101/mcs.a002949 |
0.598 |
|
2018 |
Chen H, Qian Y, Yu S, Xiao D, Guo X, Wang Q, Hao L, Lu Y, Dong X, Yan K, Zhou W, Wu B, Wang H. Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants. European Journal of Medical Genetics. PMID 29981852 DOI: 10.1016/j.ejmg.2018.07.002 |
0.564 |
|
2018 |
Yang L, Kong Y, Dong X, Hu L, Lin Y, Chen X, Ni Q, Lu Y, Wu B, Wang H, Lu QR, Zhou W. Clinical and genetic spectrum of a large cohort of children with epilepsy in China. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29930392 DOI: 10.1038/s41436-018-0091-8 |
0.571 |
|
2018 |
Zhao C, Dong C, Frah M, Deng Y, Marie C, Zhang F, Xu L, Ma Z, Dong X, Lin Y, Koenig S, Nait-Oumesmar B, Martin DM, Wu LN, Xin M, ... Zhou W, et al. Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair. Developmental Cell. 45: 753-768.e8. PMID 29920279 DOI: 10.1016/J.Devcel.2018.05.022 |
0.522 |
|
2018 |
Kong Y, Yan K, Hu L, Wang M, Dong X, Lu Y, Wu B, Wang H, Yang L, Zhou W. Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures. Clinica Chimica Acta; International Journal of Clinical Chemistry. PMID 29649454 DOI: 10.1016/j.cca.2018.03.027 |
0.558 |
|
2018 |
Chen X, Gao Y, Yang L, Wu B, Dong X, Liu B, Lu Y, Zhou W, Wang H. Speech and language delay in a patient with WDR4 mutations. European Journal of Medical Genetics. PMID 29597095 DOI: 10.1016/j.ejmg.2018.03.007 |
0.537 |
|
2018 |
He X, Zhang L, Queme LF, Liu X, Lu A, Waclaw RR, Dong X, Zhou W, Kidd G, Yoon SO, Buonanno A, Rubin JB, Xin M, Nave KA, Trapp BD, et al. A histone deacetylase 3-dependent pathway delimits peripheral myelin growth and functional regeneration. Nature Medicine. PMID 29431744 DOI: 10.1038/Nm.4483 |
0.494 |
|
2017 |
Chen X, Wang H, Wu B, Dong X, Liu B, Chen H, Lu Y, Zhou W, Yang L. One novel 2.43Kb deletion and one single nucleotide mutation of the INSR gene in a Chinese neonate with Rabson-Mendenhall syndrome. Journal of Clinical Research in Pediatric Endocrinology. PMID 29082893 DOI: 10.4274/jcrpe.5080 |
0.591 |
|
2014 |
Yang L, Wang HJ, Huang GY, Zhou WH. [Advanced molecular technologies for the diagnosis of congenital malformation in neonates]. Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics. 15: 960-4. PMID 24229588 |
0.306 |
|
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