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For: Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency. Am J Hum Genet 2021;108:1526-39. [PMID: 34270938 DOI: 10.1016/j.ajhg.2021.06.013] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 5.0] [Reference Citation Analysis]
Number Citing Articles
1 Liu H, Dai J, Li K, Sun Y, Wei H, Wang H, Zhao C, Wang DW. Performance evaluation of computational methods for splice-disrupting variants and improving the performance using the machine learning-based framework. Brief Bioinform 2022:bbac334. [PMID: 35976049 DOI: 10.1093/bib/bbac334] [Reference Citation Analysis]
2 Geysels RC, Bernal Barquero CE, Martín M, Peyret V, Nocent M, Sobrero G, Muñoz L, Signorino M, Testa G, Castro RB, Masini-repiso AM, Miras MB, Nicola JP. Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism. Front Endocrinol 2022;13:868891. [DOI: 10.3389/fendo.2022.868891] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
3 Li C, Haller G, Weihl CC. Current and Future Approaches to Classify VUSs in LGMD-Related Genes. Genes (Basel) 2022;13:382. [PMID: 35205425 DOI: 10.3390/genes13020382] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
4 Barbosa-Matos R, Leal Silva R, Garrido L, Aguiar AC, Garcia-Pelaez J, André A, Seixas S, Sousa SP, Ferro L, Vilarinho L, Gullo I, Devezas V, Oliveira R, Fernandes S, Costa SC, Magalhães A, Baptista M, Carneiro F, Pinheiro H, Castedo S, Oliveira C. The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing. Cancers (Basel) 2021;13:4464. [PMID: 34503274 DOI: 10.3390/cancers13174464] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]