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Nature Neuroscience

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Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration

Alban Latrémolière, Long Cheng, Michelle M. DeLisle, +18

Cell Reports

Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder

Xiujuan Du, Xueren Gao, Xin Liu, +12

Frontiers in Genetics

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development

Yanjie Fan, Xia Zhang, Lili Wang, +12

Scientific Reports

Genetic TestingGeneticsGenetic EpidemiologyDiagnosisGynecology +25

Marked yield of re‐evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities

Bing Xiao, Wenjuan Qiu, Xing Ji, +12

American Journal of Medical Genetics Part A

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

Zhuo Huang, Yu Sun, Yanjie Fan, +17

Cellular Physiology and Biochemistry

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

Yanjie Fan, Yanming Wu, Lili Wang, +17

BMC Medical Genomics

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

Na Xu, Hui Lv, Tingting Yang, +9

Orphanet Journal of Rare Diseases

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

Yongguo Yu, Ruen Yao, Lili Wang, +5

BMC Genomics

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population

Ruifang Wang, Nan Shen, Jun Ye, +15

Clinica Chimica Acta

Genotype-phenotype AssociationGenetic DisorderGeneticsHuman PolymorphismPathology +7