Tao-yun Ji

Tao-yun Ji

Department Of Pediatrics, Peking University First Hospital, Beijing, China Department Of Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China

Direct Impact

Concepts for which Tao-yun Ji has direct influence:

developmental delay
generalized seizures
pathogenic gene
remote programming
chinese children
hypomyelinating disorders
intractable epilepsy

External impact

Concepts related to the work of other authors for which Tao-yun Ji has influence:

neuromyelitis optica
young children
plp1 mutations
pathogenic gene
multifocal myoclonus
interphase fish
early infancy

Prominent publications by Tao-yun Ji

KOL-Index: 60 OBJECTIVE: Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population. METHODS: 119 patients with hypomyelinating disorders in Chinese population were enrolled and evaluated ...
Known for
Sequencing Genetic | Polr3a Rars | Brain Mri Scans | 9 Genes
KOL-Index: 55 Rare copy number variations (CNVs) are a known genetic etiology in neurodevelopmental disorders (NDD). Comprehensive CNV analysis was performed in 287 Chinese children with mental retardation and/or development delay (MR/DD) and their unaffected parents. When compared with 5,866 ancestry-matched controls, 11~12% more MR/DD children carried rare and large CNVs. The increased CNV burden in ...
Known for
Rare Copy Number Variations | 23 Fold | Cnvs Parents | Major Contributor
KOL-Index: 35 Background and purpose: We retrospectively analyzed the clinical characteristics of children with autoimmune encephalitis (AE) in two Chinese tertiary pediatric neurology centers. We also compared anti-NMDAR encephalitis with and without co-positive MOG antibody, as well as specific autoantibody-positive AE and autoantibody-negative but probable AE. Methods: A retrospective study of children ...
Known for
Anti-Lgi1 Encephalitis | Autoantibody-Positive | Children Anti
KOL-Index: 31 BackgroundProgressive myoclonic epilepsy (PME) is a group of neurodegenerative diseases with genetic heterogeneity and phenotypic similarities, and many cases remain unknown of the genetic causes. This study is aim to summarize the clinical features and study the genetic causes of PME patients.MethodsSanger sequencing of the target gene, Next Generation Sequencing (NGS) panels of epilepsy, ...
Known for
Myoclonic Seizures | Neuronal Ceroid Lipofuscinoses | Genetic Diagnosis | Epilepsy Pme
KOL-Index: 28 Hypomyelinating leukodystrophies (HLDs) are a rare group of disorders characterized by myelin deficit of the brain-based on MRI. Here, we studied 20 patients with unexplained HLD to uncover their genetic etiology through whole-exome sequencing (WES). Trio-based WES was performed for 20 unresolved HLDs families after genetic tests for the PLP1 duplication and a panel of 115 known ...
Known for
20 Unresolved Hlds Families | Trio Wes | 115 Leukodystrophy-Related Genes | Impaired Motor Ability
KOL-Index: 27 Objective To explore clinical features and the effect of treatment of neuromyelitis optica spectrum disorders (NMOSD) in childhood. Methods Children who were hospitalized in Department of Pediatrics, Peking University First Hospital from January 2013 to June 2018 and meeting diagnostic criteria of NMOSD proposed by the International Panel for NMOSD Diagnosis in 2015 were summarized and ...
Known for
Mog Igg | Nmosd Childhood | Aqp4 | Peking
KOL-Index: 25 BACKGROUND: Some studies have reported clinical features of relapsing MOG-IgG-associated CNS demyelination principally in Caucasians children. It is not clear whether Chinese children share the same phenotype. OBJECTIVE: To delineate the clinical characteristics in Chinese children with relapsing MOG-IgG-associated demyelination. METHODS: A follow-up study on 23 Children with relapsing ...
Known for
3 Laboratory Examinations | Brain Mri Scans | 82 Attacks | Anti-Nmda Receptor Igg
KOL-Index: 24 BACKGROUND: Fragile X syndrome is the most common genetic disorder of intellectual developmental disorder/mental retardation (IDD/MR). The prevalence of FXS in a Chinese IDD children seeking diagnosis/treatment in mainland China is unknown. METHODS: Patients with unknown moderate to severe IDD were recruited from two children's hospitals. Informed consent was obtained from the children's ...
Known for
Fmr1 Tp-Pcr | Eighteen | Expansion Agg | 4 Sporadic Idd
KOL-Index: 21 Objective To explore the clinical features, diagnosis, treatment and the prognosis of Farber disease by case report and literature review. Method The clinical information of a case with farber′s disease diagnosed in October 2015 at Peking University First Hospital was collected and analyzed, including clinical manifestation, electrophysiology, magnetic resonance imaging, pathology, ...
KOL-Index: 21 Objective To identify the pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy (PME). Methods In this cross-sectional study, 26 PME children (11 boys and 15 girls) sent to neurological outpatient clinics and admitted to wards of the Department of Pediatrics, Peking University First Hospital were enrolled prospectively from January 2014 ...
Known for
Neurological Outpatient Clinics | Kcnc1 Gene Variantions | Trio-Based Exome | Compound Heterozygous

Department of Pediatrics, Peking University First Hospital, Beijing, China Department of Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China

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