| # | Title | Journal | Year | Citations |
|---|
| 1 | The Feasibility of Metagenomic Next-Generation Sequencing to Identify Pathogens Causing Tuberculous Meningitis in Cerebrospinal Fluid | Frontiers in Microbiology | 2019 | 72 |
| 2 | Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? | Orphanet Journal of Rare Diseases | 2018 | 61 |
| 3 | Combining Disrupted and Discriminative Topological Properties of Functional Connectivity Networks as Neuroimaging Biomarkers for Accurate Diagnosis of Early Tourette Syndrome Children | Molecular Neurobiology | 2018 | 41 |
| 4 | Local Activity and Causal Connectivity in Children with Benign Epilepsy with Centrotemporal Spikes | PLoS ONE | 2015 | 37 |
| 5 | Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies | Brain | 2019 | 32 |
| 6 | The clinical and genetic characteristics in children with mitochondrial disease in China | Science China Life Sciences | 2017 | 32 |
| 7 | Arterial Ischemic Stroke: Experience in Chinese Children | Pediatric Neurology | 2008 | 24 |
| 8 | Neurochondrin Antibody Serum Positivity in Three Cases of Autoimmune Cerebellar Ataxia | Cerebellum | 2019 | 22 |
| 9 | Population pharmacokinetics of lamotrigine in Chinese children with epilepsy | Acta Pharmacologica Sinica | 2012 | 20 |
| 10 | Altered Spontaneous Brain Activity in Children with Early Tourette Syndrome: a Resting-state fMRI Study | Scientific Reports | 2017 | 19 |
| 11 | Effect of CYP2C19, UGT1A8, and UGT2B7 on valproic acid clearance in children with epilepsy: a population pharmacokinetic model | European Journal of Clinical Pharmacology | 2018 | 19 |
| 12 | Effects of UGT2B7, SCN1A and CYP3A4 on the therapeutic response of sodium valproate treatment in children with generalized seizures | Seizure: the Journal of the British Epilepsy Association | 2018 | 18 |
| 13 | NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses | Brain | 2020 | 18 |
| 14 | Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease | Frontiers in Pharmacology | 2018 | 15 |
| 15 | Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy | Mitochondrion | 2021 | 13 |
| 16 | Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC) | Journal of Human Genetics | 2011 | 11 |
| 17 | Epileptic seizure, as the first symptom of hypoparathyroidism in children, does not require antiepileptic drugs | Child's Nervous System | 2017 | 11 |
| 18 | Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation | Frontiers in Pharmacology | 2019 | 11 |
| 19 | Wild-Type Mitochondrial DNA Copy Number in Urinary Cells as a Useful Marker for Diagnosing Severity of the Mitochondrial Diseases | PLoS ONE | 2013 | 10 |
| 20 | Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene | International Journal of Molecular Sciences | 2016 | 10 |
| 21 | Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex | Science China Life Sciences | 2017 | 10 |
| 22 | Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review | Frontiers in Genetics | 2021 | 10 |
| 23 | Genotype–phenotype correlation of CACNA1A variants in children with epilepsy | Developmental Medicine and Child Neurology | 2021 | 10 |
| 24 | Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: A prospective cohort study | Indian Pediatrics | 2015 | 9 |
| 25 | Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea | Frontiers in Pharmacology | 2019 | 9 |
| 26 | Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A | Scientific Reports | 2017 | 7 |
| 27 | Serum IgG-induced microglial activation enhances neuronal cytolysis via the NO/sGC/PKG pathway in children with opsoclonus-myoclonus syndrome and neuroblastoma | Journal of Neuroinflammation | 2020 | 7 |
| 28 | Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient | Frontiers in Genetics | 2021 | 7 |
| 29 | Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China | Frontiers in Genetics | 2021 | 6 |
| 30 | Citrate Synthase and OGDH as Potential Biomarkers of Atherosclerosis under Chronic Stress | Oxidative Medicine and Cellular Longevity | 2021 | 6 |
| 31 | Phenotypes and genotypes of mitochondrial diseases with mtDNA variations in Chinese children: A multi-center study | Mitochondrion | 2022 | 6 |
| 32 | Retrospective analysis of the effectiveness of first-line antiepileptic drugs for generalized onset and unclassified epileptic seizures in Chinese children | Child's Nervous System | 2011 | 5 |
| 33 | Carnitine Deficiency in Chinese Children with Epilepsy on Valproate Monotherapy | Indian Pediatrics | 2018 | 5 |
| 34 | Report of a case with ferredoxin reductase ( FDXR ) gene variants in a Chinese boy exhibiting hearing loss, visual impairment, and motor retardation | International Journal of Developmental Neuroscience | 2021 | 5 |
| 35 | Clinical Features and Outcomes of Anti-N-Methyl-d-Aspartate Receptor Encephalitis in Infants and Toddlers | Pediatric Neurology | 2021 | 5 |
| 36 | Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases | Frontiers in Molecular Neuroscience | 2022 | 5 |
| 37 | Oxcarbazepine oral suspension in young pediatric patients with partial seizures and/or generalized tonic–clonic seizures in routine clinical practice in China: a prospective observational study | World Journal of Pediatrics | 2018 | 4 |
| 38 | IGF-1 alleviates serum IgG-induced neuronal cytolysis through PI3K signaling in children with opsoclonus-myoclonus syndrome and neuroblastoma | Pediatric Research | 2019 | 4 |
| 39 | Oxcarbazepine oral suspension in pediatric patients with partial seizures and/or generalized tonic-clonic seizures: a multi-center, single arm, observational study in China | World Journal of Pediatrics | 2017 | 3 |
| 40 | Neurological Abnormality Could be the First and Only Symptom of Familial Hemophagocytic Lymphohistiocytosis | Chinese Medical Journal | 2018 | 3 |
| 41 | Lack of association between valproic acid response and polymorphisms of its metabolism, transport, and receptor genes in children with focal seizures | Neurological Sciences | 2019 | 3 |
| 42 | Identification of a Novel m.3955G>A Variant in MT-ND1 Associated with Leigh Syndrome | Mitochondrion | 2021 | 3 |
| 43 | Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants | Frontiers in Molecular Neuroscience | 2022 | 3 |
| 44 | The phenotypic spectrum ofCOX20-associated mitochondrial disorder | Brain | 2022 | 3 |
| 45 | Acute liver failure associated with lamotrigine in children with epilepsy: A report of two cases and thoughts on pharmacogenomics | Epilepsy and Behavior Reports | 2022 | 3 |
| 46 | Simultaneous Determination of Lamotrigine, Topiramate, Oxcarbazepine, and 10,11-dihydro-10-hydroxycarbazepine in Human Blood Plasma by UHPLC-MS/MS | Current Analytical Chemistry | 2020 | 2 |
| 47 | A Case of Myotonic Dystrophy Type I With Rimmed Vacuoles in Skeletal Muscle Pathology | Journal of Clinical Rheumatology | 2020 | 2 |
| 48 | Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers’ Syndrome Genotypes | Frontiers in Pharmacology | 2021 | 1 |
| 49 | Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients | Genes | 2022 | 1 |
| 50 | Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature | Children | 2022 | 1 |
