Shujie Zhang

发表

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.

Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α0-Thalassemia in a Chinese Family

Shang Yi, Sheng He, Chenguang Zheng, 2017, Hemoglobin.

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

E. Eichler, N. Brunetti‐Pierri, Yiping Shen, 2022, Science advances.

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.

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.

Identification of a Novel 9.7 kb Deletion Causing α0-Thalassemia in Two Pregnant Women in Southern China

Xiangmin Xu, X. Qiu, Sheng He, 2018, Hemoglobin.

Characterization of Hb Bart’s Hydrops Fetalis Caused by – –SEA and a Large Novel α0-Thalassemia Deletion

Xiao-Xian Tian, X. Qiu, Sheng He, 2018, Hemoglobin.

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.

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.

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.

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

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

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

Yiping Shen, Jian Wang, Haiming Yuan, 2019, Orphanet Journal of Rare Diseases.

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

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

Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review

Z. Qin, Qinle Zhang, Qiang Zhang, 2023, BMC Medical Genomics.

Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4

Qi Yang, Jingsi Luo, Yue Zhang, 2023, International journal of general medicine.

Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism

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

Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.

Yiping Shen, Xuefan Gu, Xuyun Hu, 2017, Clinica chimica acta; international journal of clinical chemistry.

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations

Xiaofei Zhang, Qiang Zhang, Z. Qin, 2023, Heliyon.

[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.