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Cited by in F6Publishing
For: Carneiro TN, Krepischi AC, Costa SS, Tojal da Silva I, Vianna-Morgante AM, Valieris R, Ezquina SA, Bertola DR, Otto PA, Rosenberg C. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. Appl Clin Genet 2018;11:93-8. [PMID: 30174453 DOI: 10.2147/TACG.S165799] [Cited by in Crossref: 16] [Cited by in F6Publishing: 9] [Article Influence: 4.0] [Reference Citation Analysis]
Number Citing Articles
1 Karimi AH, Karimi MR, Farnia P, Parvini F, Foroutan M. A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature. Appl Clin Genet 2020;13:151-7. [PMID: 32943903 DOI: 10.2147/TACG.S261781] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
2 Dahary D, Golan Y, Mazor Y, Zelig O, Barshir R, Twik M, Iny Stein T, Rosner G, Kariv R, Chen F, Zhang Q, Shen Y, Safran M, Lancet D, Fishilevich S. Genome analysis and knowledge-driven variant interpretation with TGex. BMC Med Genomics 2019;12:200. [PMID: 31888639 DOI: 10.1186/s12920-019-0647-8] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
3 Cardoso AR, Lopes-Marques M, Silva RM, Serrano C, Amorim A, Prata MJ, Azevedo L. Essential genetic findings in neurodevelopmental disorders. Hum Genomics 2019;13:31. [PMID: 31288856 DOI: 10.1186/s40246-019-0216-4] [Cited by in Crossref: 15] [Cited by in F6Publishing: 10] [Article Influence: 5.0] [Reference Citation Analysis]
4 Colas P. Cyclin-dependent kinases and rare developmental disorders. Orphanet J Rare Dis 2020;15:203. [PMID: 32762766 DOI: 10.1186/s13023-020-01472-y] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
5 Zhang L, Gao J, Liu H, Tian Y, Zhang X, Lei W, Li Y, Guo Y, Yu H, Yuan E, Liang L, Cui S, Zhang X. Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy. Hum Genomics 2020;14:44. [PMID: 33287870 DOI: 10.1186/s40246-020-00294-0] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
6 Bouasse M, Impheng H, Servant Z, Lory P, Monteil A. Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties. Sci Rep 2019;9:11791. [PMID: 31409833 DOI: 10.1038/s41598-019-48071-x] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 3.7] [Reference Citation Analysis]
7 Chen Y, Liu KY, Yang ZL, Li XH, Xu R, Zhou H. A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review. Front Pediatr 2020;8:303. [PMID: 32714884 DOI: 10.3389/fped.2020.00303] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
8 de Castro Fonseca M, de Oliveira JF, Araujo BHS, Canateli C, do Prado PFV, Amorim Neto DP, Bosque BP, Rodrigues PV, de Godoy JVP, Tostes K, Filho HVR, Nascimento AFZ, Saito A, Tonoli CCC, Batista FAH, de Oliveira PSL, Figueira AC, Souza da Costa S, Krepischi ACV, Rosenberg C, Westfahl H Jr, da Silva AJR, Franchini KG. Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X. iScience 2021;24:102841. [PMID: 34381968 DOI: 10.1016/j.isci.2021.102841] [Reference Citation Analysis]
9 Samanta D, Zarate YA. Widening phenotypic spectrum of GABBR2 mutation. Acta Neurol Belg 2019;119:493-6. [PMID: 30707408 DOI: 10.1007/s13760-019-01088-5] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
10 Nováková M, Hampl M, Vrábel D, Procházka J, Petrezselyová S, Procházková M, Sedláček R, Kavková M, Zikmund T, Kaiser J, Juan HC, Fann MJ, Buchtová M, Kohoutek J. Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13. Front Cell Dev Biol 2019;7:155. [PMID: 31440507 DOI: 10.3389/fcell.2019.00155] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.7] [Reference Citation Analysis]
11 Distler U, Schumann S, Kesseler HG, Pielot R, Smalla KH, Sielaff M, Schmeisser MJ, Tenzer S. Proteomic Analysis of Brain Region and Sex-Specific Synaptic Protein Expression in the Adult Mouse Brain. Cells 2020;9:E313. [PMID: 32012899 DOI: 10.3390/cells9020313] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]