Weining Rong
Overview
Explore the profile of Weining Rong including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
21
Citations
222
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Ma M, Ma J, Lian Y, Wu X, Wang W, Rong W, et al.
Mol Genet Genomic Med
. 2025 Feb;
13(2):e70055.
PMID: 39910854
Background: PHARC syndrome, a rare autosomal recessive neurodegenerative disorder caused by mutations in the ABHD12 gene, is characterized by demyelinating polyneuropathy, hearing loss, ataxia, retinitis pigmentosa (RP), and early-onset cataracts....
2.
Fan X, Li Z, Sha L, Sheng X, Rong W
Sci Rep
. 2025 Jan;
15(1):3043.
PMID: 39856360
In this study, patients with inherited retinal dystrophies (IRDs) who visited Ningxia Eye Hospital from January 2015 to September 2023 were analyzed. Through Whole Exome Sequencing (WES) and Sanger verification,...
3.
Li Z, Ma R, Ma M, Xiao X, Qi X, Ma H, et al.
Front Genet
. 2024 Jul;
15:1407361.
PMID: 39076172
Purpose: Nanophthalmos is a congenital ocular structural anomaly that can cause significant visual loss in children. The early diagnosis and then taking appropriate clinical and surgical treatment remains a challenge...
4.
Fang X, Ma M, Rong W, Lian Y, Wu X, Gao Y, et al.
Front Genet
. 2024 Jul;
15:1417584.
PMID: 39076169
Introduction: Joubert syndrome a rare genetic disorder, is characterized by abnormalities in the development of the central nervous system with "molar signs" on magnetic resonance imaging of the brain and...
5.
Huang X, Li H, Yang S, Ma M, Lian Y, Wu X, et al.
BMC Med Genomics
. 2024 May;
17(1):142.
PMID: 38790056
Coffin-Siris syndrome (CSS) is a rare autosomal dominant inheritance disorder characterized by distinctive facial features, hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or...
6.
Li Z, Cheng W, Zi F, Wang J, Huang X, Sheng X, et al.
Front Genet
. 2023 Nov;
14:1157156.
PMID: 38028590
To investigate pathogenic variants in six families with cone-rod dystrophy (CORD) presenting various inheritance patterns by using whole-exome sequencing (WES) and analyzing phenotypic features. A total of six families with...
7.
Zi F, Li Z, Cheng W, Huang X, Sheng X, Rong W
BMC Med Genomics
. 2023 Sep;
16(1):223.
PMID: 37749571
Purpose: To report novel pathogenic variants of X-linked genes in five Chinese families with early-onset high myopia (eoHM) by using whole-exome sequencing and analyzing the phenotypic features. Methods: 5 probands...
8.
Huang X, Rui X, Zhang S, Qi X, Rong W, Sheng X
BMC Med Genomics
. 2023 Apr;
16(1):84.
PMID: 37085840
Background: Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability, classified into two types RSTS1 (CREBBP-RSTS) and...
9.
Yuan S, Huang X, Zhang S, Yang S, Rui X, Qi X, et al.
Front Genet
. 2023 Feb;
14:1107347.
PMID: 36777721
Donnai-Barrow syndrome (DBS) is a rare autosomal recessive disorder caused by mutation in the low density lipoprotein receptor-related protein 2 gene (). Defects in this protein may lead to clinical...
10.
Yang S, Li Z, Cheng W, Ma M, Qi R, Rui X, et al.
Mol Genet Genomic Med
. 2022 Nov;
11(1):e2095.
PMID: 36378562
Purpose: To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity. Method: A total of 25 participants including...