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Cited by in F6Publishing
For: Hu P, Wu S, Yuan L, Lin Q, Zheng W, Xia H, Xu H, Guan L, Deng H. Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. J Cell Mol Med 2017;21:1388-93. [PMID: 28157257 DOI: 10.1111/jcmm.13068] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 3.2] [Reference Citation Analysis]
Number Citing Articles
1 Yu X, Yuan L, Deng S, Xia H, Tu X, Deng X, Huang X, Cao X, Deng H. Identification of DNAH17 Variants in Han-Chinese Patients With Left–Right Asymmetry Disorders. Front Genet 2022;13:862292. [DOI: 10.3389/fgene.2022.862292] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
2 Xia H, Huang X, Deng S, Xu H, Yang Y, Liu X, Yuan L, Deng H. DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease. PLoS One 2021;16:e0252786. [PMID: 34133440 DOI: 10.1371/journal.pone.0252786] [Reference Citation Analysis]
3 Wei C, Xiao T, Cheng J, Fu J, Zhou Q, Yang L, Lv H, Fu J. Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree. Biosci Rep 2020;40:BSR20193443. [PMID: 32436957 DOI: 10.1042/BSR20193443] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
4 Chen Q, Zheng W, Xu H, Yang Y, Song Z, Yuan L, Deng H. Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family. Front Neurosci 2021;15:601757. [PMID: 33746696 DOI: 10.3389/fnins.2021.601757] [Reference Citation Analysis]
5 Wu S, Guo Y, Liu C, Liu Q, Deng H, Yuan L. Identification of a de novo TSC2 variant in a Han-Chinese family with tuberous sclerosis complex. J Chin Med Assoc 2021;84:46-50. [PMID: 33177398 DOI: 10.1097/JCMA.0000000000000455] [Reference Citation Analysis]
6 Chen X, Yuan L, Xu H, Hu P, Yang Y, Guo Y, Guo Z, Deng H. Novel GLI3 Mutations in Chinese Patients with Non-syndromic Post-axial Polydactyly. Curr Mol Med 2019;19:228-35. [PMID: 30848202 DOI: 10.2174/1566524019666190308110122] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
7 Huang X, Guo Y, Xu H, Yang Z, Deng X, Deng H, Yuan L. Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome. Mol Genet Genomic Med 2019;7:e885. [PMID: 31338997 DOI: 10.1002/mgg3.885] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
8 Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H. Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. Orphanet J Rare Dis 2019;14:179. [PMID: 31311558 DOI: 10.1186/s13023-019-1119-0] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.7] [Reference Citation Analysis]
9 Shahid S, Zaidi S, Ahmed S, Siddiqui S, Abid A, Malik S, Shamsi T. A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family. Front Genet 2019;10:360. [PMID: 31068971 DOI: 10.3389/fgene.2019.00360] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
10 Wang P, Yuan L, Chen H, Xu H, Yang Z, Deng S, Deng H. Hemizygous F8 p.G201E mutation identified in a Chinese family with haemophilia A. J Chin Med Assoc 2019;82:25-9. [PMID: 30839399 DOI: 10.1097/JCMA.0000000000000002] [Reference Citation Analysis]
11 Wang M, Guo Y, Rong P, Xu H, Gong L, Deng H, Yuan L. COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I. Mol Genet Genomic Med 2019;7:e619. [PMID: 30829463 DOI: 10.1002/mgg3.619] [Cited by in Crossref: 3] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
12 Hu P, Yuan L, Deng H. Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies. Mutat Res Rev Mutat Res 2018;778:45-50. [PMID: 30454682 DOI: 10.1016/j.mrrev.2018.09.002] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
13 Fu J, Ma L, Cheng J, Yang L, Wei C, Fu S, Lv H, Chen R, Fu J. A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis. J Cell Mol Med 2018;22:5662-9. [PMID: 30160356 DOI: 10.1111/jcmm.13841] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 3.8] [Reference Citation Analysis]
14 Wu Y, Yuan L, Guo Y, Lu A, Zheng W, Xu H, Yang Y, Hu P, Gu S, Wang B, Deng H. Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy. J Cell Mol Med 2018;22:5533-8. [PMID: 30160005 DOI: 10.1111/jcmm.13827] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
15 Xiao H, Yuan L, Xu H, Yang Z, Huang F, Song Z, Yang Y, Zeng C, Deng H. Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1. J Mol Neurosci 2018;65:557-63. [DOI: 10.1007/s12031-018-1128-9] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
16 Imani S, Cheng J, Mobasher-Jannat A, Wei C, Fu S, Yang L, Jadidi K, Khosravi MH, Mohazzab-Torabi S, Shasaltaneh MD, Li Y, Chen R, Fu J. Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing. J Cell Mol Med 2018;22:1733-42. [PMID: 29193763 DOI: 10.1111/jcmm.13454] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 2.4] [Reference Citation Analysis]