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For: Larrue R, Chamley P, Bardyn T, Lionet A, Gnemmi V, Cauffiez C, Glowacki F, Pottier N, Broly F. Diagnostic utility of whole-genome sequencing for nephronophthisis. NPJ Genom Med 2020;5:38. [PMID: 33024573 DOI: 10.1038/s41525-020-00147-8] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
Number Citing Articles
1 Keegan NP, Wilton SD, Fletcher S. Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing. Front Genet 2022;12:806946. [DOI: 10.3389/fgene.2021.806946] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
2 Gao J, Li X, Guo Y, Yu H, Song L, Fang Y, Yuan E, Shi Q, Zhao D, Yuan E, Zhang L. Identification of phenylketonuria patient genotypes using single-gene full-length sequencing. Hum Genomics 2022;16. [DOI: 10.1186/s40246-022-00397-w] [Reference Citation Analysis]
3 Bowles B, Ferrer A, Nishimura CJ, Pinto E Vairo F, Rey T, Leheup B, Sullivan J, Schoch K, Stong N, Agolini E, Cocciadiferro D, Williams A, Cummings A, Loddo S, Genovese S, Roadhouse C, McWalter K, Wentzensen IM, Li C, Babovic-Vuksanovic D, Lanpher BC, Dentici ML, Ankala A, Hamm JA, Dallapiccola B, Radio FC, Shashi V, Gérard B, Bloch-Zupan A, Smith RJ, Klee EW; Undiagnosed Diseases Network. TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. Am J Med Genet A 2021;185:2417-33. [PMID: 34042254 DOI: 10.1002/ajmg.a.62347] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
4 Petersen USS, Doktor TK, Andresen BS. Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genome. Hum Mutat 2021. [PMID: 34837434 DOI: 10.1002/humu.24306] [Reference Citation Analysis]
5 Ki CS. Recent Advances in the Clinical Application of Next-Generation Sequencing. Pediatr Gastroenterol Hepatol Nutr 2021;24:1-6. [PMID: 33505888 DOI: 10.5223/pghn.2021.24.1.1] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
6 Rabie EA, Sayed ISM, Amr K, Ahmed HA, Mostafa MI, Hassib NF, El-Sayed H, Zada SK, El-Kamah G. Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity. Genes (Basel) 2022;13:1056. [PMID: 35741818 DOI: 10.3390/genes13061056] [Reference Citation Analysis]
7 Devarajan P, Chertow GM, Susztak K, Levin A, Agarwal R, Stenvinkel P, Chapman AB, Warady BA. Emerging Role of Clinical Genetics in CKD. Kidney Medicine 2022. [DOI: 10.1016/j.xkme.2022.100435] [Reference Citation Analysis]
8 König JC, Karsay R, Gerß J, Schlingmann K, Dahmer-heath M, Telgmann A, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra J, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, Konrad M. Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis. Kidney International Reports 2022. [DOI: 10.1016/j.ekir.2022.05.035] [Reference Citation Analysis]
9 Al Alawi I, Al Riyami M, Barroso-Gil M, Powell L, Olinger E, Al Salmi I, Sayer JA. The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients. F1000Res 2021;10:207. [PMID: 34354814 DOI: 10.12688/f1000research.40338.2] [Reference Citation Analysis]