Next‐generation sequencing based molecular testing is an equalizer for diagnostic service of rare genetic disorders in China

par Shen, Yiping
Publié dans Pediatr Investig (2018)

Severe Systemic Rash in the Treatment of Hairy Cell Leukemia with Cladribine: Case Report and Literature Review

par Dong, Huijie, Shen, Yingying, Shen, Yiping, Wu, Dijiong
Publié dans Int J Gen Med (2020)

Gene identification and DNA sequence analysis in the GC-poor 20 megabase region of human chromosome 21

par Yu, Jingwei, Tong, Suhong, Shen, Yiping, Kao, Fa-Ten
Publié 1997

Comparison of Clinical Subgroup aCGH Profiles through Pseudolikelihood Ratio Tests

par Engler, David, Shen, Yiping, Gusella, James, Betensky, Rebecca A.
Publié 2011

Both Cell-Autonomous and Cell Non-Autonomous Functions of GAP-43 are Required for Normal Patterning of the Cerebellum In Vivo

par Shen, Yiping, Mishra, Rashmi, Mani, Shyamala, Meiri, Karina F.
Publié 2008

Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype

par Carmichael, Heather, Shen, Yiping, T, Thutrang, Hirschhorn, Joel N, Dauber, Andrew
Publié 2012

Trio-R: a script for assessing maternity and paternity in trio studies performed on Agilent chromosomal microarrays

par Xia, Daniel, Zhang, Chen, Lip, Va, Harris, Marian, Shen, Yiping
Publié dans BMC Med Inform Decis Mak (2018)

Evaluation of copy number variant detection from panel‐based next‐generation sequencing data

par Yao, Ruen, Yu, Tingting, Qing, Yanrong, Wang, Jian, Shen, Yiping
Publié dans Mol Genet Genomic Med (2018)

The rise of the genetic counseling profession in China

par Sun, Liya, Liang, Bo, Zhu, Liping, Shen, Yiping, He, Lin
Publié dans Am J Med Genet C Semin Med Genet (2019)

Influence of the PZT Sensor Array Configuration on Lamb Wave Tomography Imaging with the RAPID Algorithm for Hole and Crack Detection

par Wang, Songlai, Wu, Wanrong, Shen, Yiping, Liu, Yi, Jiang, Shuai
Publié dans Sensors (Basel) (2020)

The portrayal of people with dwarfism in Chinese art

par Wu, Liuyin, Zhou, Ying, Zhang, Dan, Shen, Yiping, Liu, Aixia
Publié dans Am J Med Genet C Semin Med Genet (2021)

The missense Thr211Pro mutation in the factor X activation peptide of a bleeding patient causes molecular defect in the clotting cascade

par Ding, Qiulan, Shen, Yiping, Yang, Likui, Wang, Xuefeng, Rezaie, Alireza R.
Publié 2013

Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation

par Sankararaman, Senthilkumar, Kurepa, Dalibor, Shen, Yiping, Kakkilaya, Venkatakrishna, Ursin, Sussone, Chen, Harold
Publié dans J Pediatr Genet (2013)

The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability

par Ha, Kyungsoo, Shen, Yiping, Graves, Tyler, Kim, Cheol-Hee, Kim, Hyung-Goo
Publié dans Mol Cytogenet (2016)

Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia

par Yan, Mei, Dilihuma, Julaiti, Luo, Yanfei, Reyilanmu, Baoerhan, Shen, Yiping, Mireguli, Maimaiti
Publié dans J Clin Res Pediatr Endocrinol (2019)

Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature

par Qin, Zailong, Yang, Qi, Yi, Shang, Huang, Limei, Shen, Yiping, Luo, Jingsi
Publié dans Mol Genet Genomic Med (2020)

Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms

par Zhou, Weichen, Zhang, Feng, Chen, Xiaoli, Shen, Yiping, Lupski, James R., Jin, Li
Publié 2013

Growth-Associated Protein-43 Is Required for Commissural Axon Guidance in the Developing Vertebrate Nervous System

par Shen, Yiping, Mani, Shyamala, Donovan, Stacy L., Schwob, James E., Meiri, Karina F.
Publié dans J Neurosci (2002)

Genome-wide detection of natural selection in African Americans pre- and post-admixture

par Jin, Wenfei, Xu, Shuhua, Wang, Haifeng, Yu, Yongguo, Shen, Yiping, Wu, Bailin, Jin, Li
Publié 2012

Preparation of high drug-loading celastrol nanosuspensions and their anti-breast cancer activities in vitro and in vivo

par Huang, Tiantian, Wang, Yian, Shen, Yiping, Ao, Hui, Guo, Yifei, Han, Meihua, Wang, Xiangtao
Publié dans Sci Rep (2020)