Jiasun Su

发表

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement

Yiping Shen, Z. Qin, Jiasun Su, 2021, Molecular genetics & genomic medicine.

The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: functional consequences and clinical diversity.

Yiping Shen, Ling Li, Hongyan Wang, 2019, Clinica chimica acta; international journal of clinical chemistry.

Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases

P. Agrawal, Shaoke Chen, S. Luo, 2019, Scientific Reports.

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship

Yiping Shen, Z. Qin, Jiasun Su, 2019, Molecular genetics & genomic medicine.

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism

Yiping Shen, Xuefan Gu, Xuyun Hu, 2016, Molecular and Cellular Endocrinology.

Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion

Hongwei Wei, Jiasun Su, Shuyin Tan, 2021, The journal of obstetrics and gynaecology research.

Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China

T. Leung, Z. Dong, Hongwei Wei, 2021, Genes.

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

Yiping Shen, Z. Qin, Jiasun Su, 2020, BMC Medical Genetics.

Clinical application of whole-exome sequencing: A retrospective, single-center study

Z. Qin, Jiasun Su, Qiang Zhang, 2021, Experimental and therapeutic medicine.

Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature

Z. Qin, Jiasun Su, Qiang Zhang, 2020, BMC Medical Genomics.

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

Yiping Shen, Z. Qin, Jiasun Su, 2020, Frontiers in Genetics.

Novel pathogenic ACAN variants in non-syndromic short stature patients.

Yiping Shen, Tingting Yu, Jian Wang, 2017, Clinica chimica acta; international journal of clinical chemistry.

A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33.

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Gene.

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates

Shaoke Chen, S. Luo, Z. Qin, 2018, Scientific Reports.

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

Z. Qin, Jiasun Su, Weiliang Lu, 2019, Molecular Cytogenetics.

Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.

Yiping Shen, C. Gong, Li-na Song, 2018, Gene.

Mosaic UPD(7q)mat in a patient with silver Russell syndrome

Yiping Shen, Z. Qin, Jiasun Su, 2017, Molecular Cytogenetics.

Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Clinica chimica acta; international journal of clinical chemistry.

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

Yiping Shen, Xuefan Gu, Xuyun Hu, 2016, Clinica chimica acta; international journal of clinical chemistry.

Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Xuefan Gu, Xuyun Hu, Shaoke Chen, 2016, BMJ Open.

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Yiping Shen, Xuyun Hu, Shaoke Chen, 2015, Archives of endocrinology and metabolism.

PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.

Yiping Shen, Xuefan Gu, Xuyun Hu, 2015, Clinica chimica acta; international journal of clinical chemistry.

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.

The application of expanded noninvasive prenatal screening for genome-wide chromosomal abnormalities and genetic counseling

Yiping Shen, Xiaoshan Huang, Hongwei Wei, 2021, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations.

P. Agrawal, Shaoke Chen, S. Luo, 2019, Clinica chimica acta; international journal of clinical chemistry.

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Molecular Cytogenetics.

Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.

Yiping Shen, Jian Wang, C. Gong, 2017, Clinica chimica acta; international journal of clinical chemistry.

The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH

Xuyun Hu, Shaoke Chen, Jiasun Su, 2017, Endocrine connections.

Targeted addition of mini-dystrophin into rDNA locus of Duchenne muscular dystrophy patient-derived iPSCs.

D. Liang, Lingqian Wu, Zhiqing Hu, 2021, Biochemical and biophysical research communications.

de novo interstitial deletions at the 11q23.3-q24.2 region

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Molecular Cytogenetics.

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates

Shaoke Chen, S. Luo, Z. Qin, 2018, Scientific Reports.