Jin Wang

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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.

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

Yiping Shen, Shaoke Chen, Shang Yi, 2016, Molecular Cytogenetics.

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3) The made this article openly available. Please share how this access benefits you. Your story matters

Yiping Shen, Xuyun Hu, Shaoke Chen, 2015 .

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)

Yiping Shen, Xuyun Hu, Shaoke Chen, 2014, Molecular Cytogenetics.

A novel variant of IHH in a Chinese family with brachydactyly type 1

Yiping Shen, J. Lan, Xiao-Xian Tian, 2019, BMC Medical Genetics.

A novel pathogenic variant of IHH for Brachydactyly type A1

Yiping Shen, J. Lan, Mengting Li, 2019 .

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.

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

Z. Qin, Qinle Zhang, Mengting Li, 2019, BMC Medical Genetics.

A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1

Z. Qin, Qinle Zhang, Qi Yang, 2018, Molecular medicine reports.

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.

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

Yiping Shen, Shaoke Chen, Shang Yi, 2016, Molecular Cytogenetics.

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.

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation-dependent probe amplification in an infant with congenital generalized lipodystrophy

Yiping Shen, Z. Qin, Shang Yi, 2020, Molecular medicine reports.

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.

Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder

Yiping Shen, Xin Fan, Wenyong Wu, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation.

Yiping Shen, Z. Qin, Qinle Zhang, 2022, Clinica chimica acta; international journal of clinical chemistry.

[ASS1 gene mutation in a neonate with citrullinemia type I].

Shaoke Chen, Jingsi Luo, B. Xie, 2014, Zhonghua er ke za zhi = Chinese journal of pediatrics.

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

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

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

Yiping Shen, Jiahai Shi, P. Agrawal, 2018, Molecular genetics and metabolism reports.

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.

New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype–phenotype profiling of SRD5A2 in 190 Chinese patients

C. Gong, Shaoke Chen, F. Luo, 2019, Journal of Medical Genetics.

Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.

Yiping Shen, Lingqian Wu, W. Lv, 2016, Gene.

EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome

Yiping Shen, Shaoke Chen, Jingsi Luo, 2015, BMC Medical Genetics.

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

Yiping Shen, Z. Qin, Qinle Zhang, 2021, Molecular genetics & genomic medicine.

Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism

Yiping Shen, X. Fan, H. Zheng, 2015, Journal of Endocrinological Investigation.

[Application of SNP-array technology in the genetic analysis of pediatric patients with growth retardation].

Xuyun Hu, Shaoke Chen, S. Luo, 2017, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.