Synaptopathology involved in autism spectrum disorder S Guang, N Pang, X Deng, L Yang, F He, L Wu, C Chen, F Yin, J Peng Frontiers in cellular neuroscience 12, 470, 2018 | 257 | 2018 |
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model H Guo, T Wang, H Wu, M Long, BP Coe, H Li, G Xun, J Ou, B Chen, ... Molecular autism 9, 1-12, 2018 | 140 | 2018 |
Novel West syndrome candidate genes in a Chinese cohort J Peng, Y Wang, F He, C Chen, LW Wu, LF Yang, YP Ma, W Zhang, ... CNS neuroscience & therapeutics 24 (12), 1196-1206, 2018 | 80 | 2018 |
Next‐generation sequencing improves treatment efficacy and reduces hospitalization in children with drug‐resistant epilepsy J Peng, N Pang, Y Wang, XL Wang, J Chen, J Xiong, P Peng, CH Zhu, ... CNS neuroscience & therapeutics 25 (1), 14-20, 2019 | 61 | 2019 |
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review M Kessi, J Peng, L Yang, J Xiong, H Duan, N Pang, F Yin BMC genetics 19, 1-15, 2018 | 58 | 2018 |
Neurological diseases with autism spectrum disorder: Role of ASD risk genes J Xiong, S Chen, N Pang, X Deng, L Yang, F He, L Wu, C Chen, F Yin, ... Frontiers in neuroscience 13, 349, 2019 | 55 | 2019 |
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission H Guo, Y Li, L Shen, T Wang, X Jia, L Liu, T Xu, M Ou, K Hoekzema, H Wu, ... Science advances 5 (9), eaax2166, 2019 | 38 | 2019 |
Unexplained early infantile epileptic encephalopathy in Han Chinese children: next-generation sequencing and phenotype enriching A Arafat, P Jing, Y Ma, M Pu, G Nan, H Fang, C Chen, Y Fei Scientific Reports 7 (1), 46227, 2017 | 35 | 2017 |
Rare copy number variations and predictors in children with intellectual disability and epilepsy M Kessi, J Xiong, L Wu, L Yang, F He, C Chen, N Pang, H Duan, W Zhang, ... Frontiers in Neurology 9, 947, 2018 | 28 | 2018 |
Homozygous PIGT mutation lead to multiple congenital anomalies-hypotonia seizures syndrome 3 L Yang, J Peng, XM Yin, N Pang, C Chen, TH Wu, XM Zou, F Yin Frontiers in Genetics 9, 327481, 2018 | 24 | 2018 |
A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature HL Duan, J Peng, N Pang, SM Chen, J Xiong, SQ Guang, F Yin Zhonghua er ke za zhi= Chinese Journal of Pediatrics 57 (5), 368-372, 2019 | 14 | 2019 |
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: a prospective study Y Sun, J Peng, D Liang, X Ye, N Xu, L Chen, D Yan, H Zhang, B Xiao, ... Human Mutation 43 (5), 568-581, 2022 | 12 | 2022 |
Etiologic classification of 541 infantile spasms cases: a cohort study P Peng, M Kessi, L Mao, F He, C Zhang, C Chen, N Pang, F Yin, Z Pan, ... Frontiers in Pediatrics 10, 774828, 2022 | 8 | 2022 |
Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases. WU Teng-Hui, P Jing, Z Ci-Liu, WU Li-Wen, Y Li-Fen, P Pan, P Nan, ... Chinese Journal of Contemporary Pediatrics 22 (6), 2020 | 8 | 2020 |
TTTCA Repeat Expansion of SAMD12 in a New Benign Adult Familial Myoclonic Epilepsy Pedigree C Liu, Y Song, Y Yuan, Y Peng, N Pang, R Duan, W Huang, X Qin, W Xiao, ... Frontiers in Neurology 11, 68, 2020 | 8 | 2020 |
Clinical features and COL4A1 genotype of a toddler with hereditary angiopathy with nephropathy, aneurysms and muscle cramps syndrome LD Shan, J Peng, H Xiao, LW Wu, HL Duan, N Pang, K Miriam, F Yin Zhongguo Dang dai er ke za zhi= Chinese Journal of Contemporary Pediatrics …, 2019 | 7 | 2019 |
A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases X Wang, B You, F Yin, C Chen, H He, F Liu, Z Pan, X Ni, N Pang, J Peng Journal of Human Genetics 68 (6), 375-382, 2023 | 5 | 2023 |
Restoration of Sarco/Endoplasmic Reticulum Ca2+-ATPase Activity Functions as a Pivotal Therapeutic Target of Anti-Glutamate-Induced Excitotoxicity to Attenuate … W Zhang, F Ye, N Pang, M Kessi, J Xiong, S Chen, J Peng, L Yang, F Yin Frontiers in Pharmacology 13, 877175, 2022 | 5 | 2022 |
Splicing Interruption by Intron Variants in CSNK2B Causes Poirier–Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype–Phenotype Correlations W Zhang, F Ye, S Chen, J Peng, N Pang, F Yin Frontiers in Neuroscience 16, 892768, 2022 | 4 | 2022 |
A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation YL Tang, J Peng, J Xiong, N Pang, LW Wu, HY Yang, M Kessi, F Yin Zhonghua er ke za zhi= Chinese Journal of Pediatrics 56 (11), 829-834, 2018 | 4 | 2018 |