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ADF/cofilin-mediated actin dynamics regulate AMPA receptor trafficking during synaptic plasticity

Nature neuroscience, 2010-10, Vol.13 (10), p.1208-1215

2010

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

Cell reports (Cambridge), 2018-08, Vol.24 (7), p.1865-1879.e9

2018

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Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders

Genome medicine, 2024-09, Vol.16 (1), p.113-12, Article 113

2024

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A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses

World journal of urology, 2022-05, Vol.40 (5), p.1211-1216

2022

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

Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.335-12, Article 335

2020

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Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports

BMC medical genetics, 2020-04, Vol.21 (1), p.74-74, Article 74

2020

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Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays

Journal of human genetics, 2021-04, Vol.66 (4), p.409-417

2021

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Chronic Neuroinflammation Induced by Lipopolysaccharide Injection into the Third Ventricle Induces Behavioral Changes

Journal of molecular neuroscience, 2021-06, Vol.71 (6), p.1306-1319

2021

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Changes in Homogalacturonan Metabolism in Banana Peel during Fruit Development and Ripening

International journal of molecular sciences, 2021-12, Vol.23 (1), p.243

2021

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Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis

World journal of urology, 2021-07, Vol.39 (7), p.2759-2765

2021

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A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

Journal of clinical research in pediatric endocrinology, 2019-12, Vol.11 (4), p.419-425

2019

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Actin capping protein regulates postsynaptic spine development through CPI-motif interactions

Frontiers in molecular neuroscience, 2022-09, Vol.15, p.1020949-1020949

2022

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

Cellular physiology and biochemistry, 2018-01, Vol.49 (1), p.295-305

2018

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A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis

Frontiers in pediatrics, 2023-04, Vol.11, p.978879-978879

2023

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Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder

Frontiers in genetics, 2018-12, Vol.9, p.665

2018

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

Frontiers in genetics, 2018-11, Vol.9, p.594-594

2018

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Development and external validation of a COVID-19 mortality risk prediction algorithm: a multicentre retrospective cohort study

BMJ open, 2020-12, Vol.10 (12), p.e044028-e044028

2020

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Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients

Frontiers in genetics, 2020-07, Vol.11, p.616-616

2020

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Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

BMC medical genomics, 2017-10, Vol.10 (1), p.62-62, Article 62

2017

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Soybean aphid, Aphis glycines (Hemiptera: Aphididae), developmental and reproductive capacity on white clover, Trifolium repens (Rosales: Leguminosae), in northeast China

Applied entomology and zoology, 2017-08, Vol.52 (3), p.491-495

2017

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A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome

Cellular physiology and biochemistry, 2018-01, Vol.47 (6), p.2388-2395

2018

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

BMC medical genomics, 2018-05, Vol.11 (1), p.49-49, Article 49

2018

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Uniparental isodisomy caused autosomal recessive diseases: NGS‐based analysis allows the concurrent detection of homogenous variants and copy‐neutral loss of heterozygosity

Molecular genetics & genomic medicine, 2019-10, Vol.7 (10), p.e00945-n/a

2019

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Identification of RUNX2 variants associated with cleidocranial dysplasia

Hereditas, 2019-09, Vol.156 (1), p.31-31, Article 31

2019

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Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China

Taiwanese journal of obstetrics & gynecology, 2021-03, Vol.60 (2), p.299-304

2021

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ADF/cofilin-mediated actin dynamics regulate AMPA receptor trafficking during synaptic plasticity

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

Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders

A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses

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

Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports

Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays

Chronic Neuroinflammation Induced by Lipopolysaccharide Injection into the Third Ventricle Induces Behavioral Changes

Changes in Homogalacturonan Metabolism in Banana Peel during Fruit Development and Ripening

Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis

A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

Actin capping protein regulates postsynaptic spine development through CPI-motif interactions

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

A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis

Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder

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

Development and external validation of a COVID-19 mortality risk prediction algorithm: a multicentre retrospective cohort study

Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

Soybean aphid, Aphis glycines (Hemiptera: Aphididae), developmental and reproductive capacity on white clover, Trifolium repens (Rosales: Leguminosae), in northeast China

A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome

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

Uniparental isodisomy caused autosomal recessive diseases: NGS‐based analysis allows the concurrent detection of homogenous variants and copy‐neutral loss of heterozygosity

Identification of RUNX2 variants associated with cleidocranial dysplasia

Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China

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