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For: Alvarez-Mora MI, Corominas J, Gilissen C, Sanchez A, Madrigal I, Rodriguez-Revenga L. Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing. Genes (Basel) 2021;12:557. [PMID: 33921338 DOI: 10.3390/genes12040557] [Cited by in Crossref: 4] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
Number Citing Articles
1 Penon-Portmann M, Hodoglugil U, Arun P W, Yip T, Slavotinek A, Tenney JL. TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. Am J Med Genet A 2023;191:1077-82. [PMID: 36574751 DOI: 10.1002/ajmg.a.63100] [Reference Citation Analysis]
2 Alvarez-mora MI, Rodríguez-revenga L, Jodar M, Potrony M, Sanchez A, Badenas C, Oriola J, Villanueva-cañas JL, Muñoz E, Valldeoriola F, Cámara A, Compta Y, Carreño M, Martí MJ, Sánchez-valle R, Madrigal I. Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders. Genes 2023;14:813. [DOI: 10.3390/genes14040813] [Reference Citation Analysis]
3 Bozsik A, Butz H, Grolmusz VK, Polgár C, Patócs A, Papp J. Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization. Eur J Hum Genet 2023. [PMID: 36828923 DOI: 10.1038/s41431-023-01322-y] [Reference Citation Analysis]
4 Asif M, Anayat M, Tariq F, Noureen T, Din GNU, Becker C, Becker K, Thiele H, Makhdoom EUH, Shaiq PA, Baig SM, Nürnberg P, Hussain MS, Raja GK, Abdullah U. Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability. Genes (Basel) 2022;14. [PMID: 36672789 DOI: 10.3390/genes14010048] [Reference Citation Analysis]
5 Amin M, Vignal C, Eltaraifee E, Mohammed IN, Hamed AAA, Elseed MA, Babai A, Elbadi I, Mustafa D, Abubaker R, Mustafa M, Drunat S, Elsayed LEO, Ahmed AE, Boespflug-tanguy O, Dorboz I. A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability. BMC Med Genomics 2022;15:236. [DOI: 10.1186/s12920-022-01354-1] [Reference Citation Analysis]
6 Rodriguez-revenga L, Alvarez-mora MI. Special Issue: Genetics of Psychiatric Disease and the Basics of Neurobiology. Genes 2022;13:2008. [DOI: 10.3390/genes13112008] [Reference Citation Analysis]
7 Radenkovic S, Martinelli D, Zhang Y, Preston GJ, Maiorana A, Terracciano A, Dentici ML, Pisaneschi E, Novelli A, Ranatunga W, Ligezka AN, Ghesquière B, Deyle DR, Kozicz T, Pinto E Vairo F, Witters P, Morava E. TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability. Genet Med 2022;24:894-904. [PMID: 35042660 DOI: 10.1016/j.gim.2021.12.012] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 4.0] [Reference Citation Analysis]
8 Álvarez-mora MI, Sánchez A, Rodríguez-revenga L, Corominas J, Rabionet R, Puig S, Madrigal I. Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders. Orphanet J Rare Dis 2022;17. [DOI: 10.1186/s13023-022-02213-z] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
9 Servetti M, Pisciotta L, Tassano E, Cerminara M, Nobili L, Boeri S, Rosti G, Lerone M, Divizia MT, Ronchetto P, Puliti A. Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs. Front Genet 2021;12:732002. [PMID: 34621295 DOI: 10.3389/fgene.2021.732002] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]