Shumin Ren
Zhengzhou University
10 Papers
4 Citations
Shumin Ren is an academic researcher from Zhengzhou University. The author has contributed to research in topics: Sanger sequencing & Biology. The author has an hindex of 2, co-authored 6 publications.
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Papers
The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism
TL;DR: The aim of this study was to describe the experience of the service in relation to 16 cases with 45,X/46,XY mosaicism, a rare chromosomal abnormality and probably underdiagnosed in the Chinese population, and to permit a better management of people with the same condition.
27
Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing
TL;DR: This study aimed to investigate the underlying molecular pathology in Chinese WS families by identifying the mechanisms leading to nonprogressive sensorineural hearing loss and iris discoloration.
7
Whole‐exome sequencing identified novel variants in three Chinese Leigh syndrome pedigrees
Zhi-hua Yang,Jun Cao,Yucen Song,Su Yi Li,Zhihui Jiao,Shumin Ren,Xu Gao,Suqin Zhang,Jingjing Liu,Yibing Chen +9 more
TL;DR: Three clinically suspected LS patients manifesting neurological symptoms including developmental delay, hypotonia, and epilepsy during the first year of age are presented, along with symmetric brain lesions on MRI, to provide novel evidence for genetic counseling.
5
Clinical phenotype and genetic analysis of three pedigrees with 17q12 microdeletion syndrome
Qinghua Wu,Saisai Yang,Can Wang,Huirong Shi,Xiangdong Kong,Shumin Ren,Zhihui Jiao,Ning Liu,Panlai Shi +8 more
TL;DR: The diagnosis of 17q12 microdeletion may be difficult during fetal period for its variable phenotypes, and Alterations of chromosomal copy numbers need to be excluded in such patients.
3
Ultrasonographic manifestation and genetic analysis of a fetus with nephronophthisis type 2
TL;DR: Through NGS and Sanger sequencing, the fetus was diagnosed with type II nephronophthisis (NPHP2) and can provide guidance for further pregnancy and enforce understanding of clinical features and genetic etiologies for NPHP.
2