Hua Xie

发表

Association Between a 45-bp 3′Untranslated Insertion/Deletion Polymorphism in Exon 8 of UCP2 Gene and Neural Tube Defects in a High-Risk Area of China

Xiaoying Zheng, F. Wang, B. Niu, 2011, Reproductive Sciences.

PCMT1 gene polymorphisms, maternal folate metabolism, and neural tube defects: a case–control study in a population with relatively low folate intake

F. Wang, B. Niu, Xiaoli Chen, 2013, Genes & Nutrition.

A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism

Xiaoli Chen, Hua Xie, Xinyu Yuan, 2020, Brain and Development.

Rare Deleterious PARD3 Variants in the aPKC‐Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation

J. Gusella, Bai-Lin Wu, R. Finnell, 2017, Human mutation.

Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area.

F. Wang, B. Niu, Jianhua Wang, 2012, Gene.

The maternal folate hydrolase gene polymorphism is associated with neural tube defects in a high-risk Chinese population

F. Wang, B. Niu, Jianhua Wang, 2012, Genes & Nutrition.

Glutamate carboxypeptidase II gene polymorphisms and neural tube defects in a high-risk Chinese population

F. Wang, Lihua Wu, B. Niu, 2012, Metabolic Brain Disease.

Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow‐up study of four Chinese children carriers

Nan Wu, Jian Wang, Lung-Chuang Wang, 2020, Molecular genetics & genomic medicine.

Detection of Small CYP11B1 Deletions and One Founder Chimeric CYP11B2/CYP11B1 Gene in 11β-Hydroxylase Deficiency

Xiaoli Chen, Yu Zhang, Hua Xie, 2022, Frontiers in Endocrinology.

Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants

Lung-Chuang Wang, Xiaoli Chen, Yu Zhang, 2022, Genes.

Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants

Nan Wu, Xiaoli Chen, Hua Xie, 2018, BMC Medical Genetics.

Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes

Chunyu Liu, Xiaohui Cui, Yiping Shen, 2022, bioRxiv.

Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort

Yang-Yang Wang, Xiaoli Chen, J. Picker, 2021, Molecular genetics & genomic medicine.

CNV profiles of Chinese pediatric patients with developmental disorders

Yiping Shen, J. Gusella, Xiao Chen, 2021, Genetics in Medicine.

CNV profiles of Chinese pediatric patients with developmental disorders

Yiping Shen, J. Gusella, Jian Wang, 2021, Genetics in Medicine.

A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome

J. Gusella, Weiyu Li, Caihua Li, 2017, Scientific Reports.

Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects

Yiping Shen, J. Gusella, Bai-Lin Wu, 2013, PloS one.

Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder

Z. Xiong, Xiaoli Chen, Yuwu Jiang, 2015, BMC Pediatrics.

Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion

Xiaoli Chen, Hua Xie, Yuchun Yan, 2015, Molecular Cytogenetics.

Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion

Xiaoli Chen, Hua Xie, Yuchun Yan, 2015, Molecular Cytogenetics.

Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family

Jian Wang, Xiaoli Chen, Jianmin Zhong, 2017, BMC Medical Genetics.

The maternal folate hydrolase gene polymorphism is associated with neural tube defects in a high-risk Chinese population

F. Wang, B. Niu, Jianhua Wang, 2013, Genes & Nutrition.

Glutamate carboxypeptidase II gene polymorphisms and neural tube defects in a high-risk Chinese population

F. Wang, Lihua Wu, B. Niu, 2012, Metabolic Brain Disease.

A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling

Xiaoli Chen, Hua Xie, J. Zou, 2023, BMC Pediatrics.

PCMT1 gene polymorphisms, maternal folate metabolism, and neural tube defects: a case–control study in a population with relatively low folate intake

F. Wang, B. Niu, Xiaoli Chen, 2013, Genes & Nutrition.