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Cited by in F6Publishing
For: Kim Y, Lee Y, Park JH, Lee H, Cheon CK, Kim S, Hwang J, Jang J, Yoo H. High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing: KIM et al. Clin Genet 2017;92:594-605. [DOI: 10.1111/cge.13038] [Cited by in Crossref: 14] [Cited by in F6Publishing: 16] [Article Influence: 2.8] [Reference Citation Analysis]
Number Citing Articles
1 Villate O, Maortua H, Tejada M, Llano-rivas I. RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome. Front Pediatr 2022;10:827802. [DOI: 10.3389/fped.2022.827802] [Reference Citation Analysis]
2 Ahn J, Oh J, Suh J, Song K, Kwon A, Chae HW, Oh JS, Lee HI, Lee MS, Kim HS. Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients. Mol Cell Endocrinol 2021;:111489. [PMID: 34653508 DOI: 10.1016/j.mce.2021.111489] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
3 Kamil G, Yoon JY, Yoo S, Cheon CK. Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature. Orphanet J Rare Dis 2021;16:297. [PMID: 34217350 DOI: 10.1186/s13023-021-01937-8] [Reference Citation Analysis]
4 Mintz CS, Seaver LH, Irons M, Grimberg A, Lozano R; ACMG Professional Practice and Guidelines Committee. Focused Revision: ACMG practice resource: Genetic evaluation of short stature. Genet Med 2021;23:813-5. [PMID: 33514815 DOI: 10.1038/s41436-020-01046-0] [Cited by in Crossref: 1] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [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: 6] [Article Influence: 2.0] [Reference Citation Analysis]
6 Li ZD, Abuduxikuer K, Zhang J, Yang Y, Qiu YL, Huang Y, Xie XB, Lu Y, Wang JS. NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients. Hepatol Res 2020;50:1306-15. [PMID: 32812336 DOI: 10.1111/hepr.13559] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
7 Ritelli M, Palagano E, Cinquina V, Beccagutti F, Chiarelli N, Strina D, Hall IF, Villa A, Sobacchi C, Colombi M. Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency. Bone 2020;140:115571. [PMID: 32768688 DOI: 10.1016/j.bone.2020.115571] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
8 Lacassie Y, Johnson B, Lay-Son G, Quintana R, King A, Cortes F, Alvarez C, Gomez R, Vargas A, Chalew S, King A, Guardia S, Sorensen RU, Aradhya S. Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades. Am J Med Genet A 2020;182:1767-75. [PMID: 32297715 DOI: 10.1002/ajmg.a.61597] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
9 Marsili L, Overwater E, Hanna N, Baujat G, Baars MJH, Boileau C, Bonneau D, Brehin AC, Capri Y, Cheung HY, Dulfer E, Gerard M, Gouya L, Hilhorst-Hofstee Y, Houweling AC, Isidor B, Le Gloan L, Menke LA, Odent S, Morice-Picard F, Vanlerberghe C, Voorhoeve E, van Tintelen JP, Maugeri A, Arnaud P. Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient. Clin Genet 2020;97:723-30. [PMID: 31898322 DOI: 10.1111/cge.13700] [Cited by in Crossref: 4] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
10 Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-nath C, Leibner A, Lurz E, Mayr JA, Mckiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D. Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients. Genet Med 2020;22:610-21. [DOI: 10.1038/s41436-019-0698-4] [Cited by in Crossref: 18] [Cited by in F6Publishing: 24] [Article Influence: 6.0] [Reference Citation Analysis]
11 Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL. Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing. J Pediatr 2019;215:192-8. [PMID: 31630891 DOI: 10.1016/j.jpeds.2019.08.024] [Cited by in Crossref: 13] [Cited by in F6Publishing: 19] [Article Influence: 4.3] [Reference Citation Analysis]
12 Yilmaz E, Mihci E, Nur B, Alper ÖM, Taçoy Ş. Recent Advances in Craniosynostosis. Pediatric Neurology 2019;99:7-15. [DOI: 10.1016/j.pediatrneurol.2019.01.018] [Cited by in Crossref: 5] [Cited by in F6Publishing: 8] [Article Influence: 1.7] [Reference Citation Analysis]
13 Freire BL, Homma TK, Funari MFA, Lerario AM, Vasques GA, Malaquias AC, Arnhold IJP, Jorge AAL. Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature. The Journal of Clinical Endocrinology & Metabolism 2019;104:2023-30. [DOI: 10.1210/jc.2018-01971] [Cited by in Crossref: 21] [Cited by in F6Publishing: 29] [Article Influence: 7.0] [Reference Citation Analysis]
14 Geng D, Yang X, Zhang H, Liu X, Yu Y, Jiang Y, Liu R, Zhang G. Association of single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene with spermatogenesis failure in male idiopathic infertility in Northeast China. J Int Med Res 2019;47:992-8. [PMID: 30488758 DOI: 10.1177/0300060518811770] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
15 Geng D, Yang X, Wang R, Deng S, Li L, Hu X, Jiang Y, Liu R. A novel stopgain mutation c.G992A (p.W331X) in TACR3 gene was identified in nonobstructive azoospermia by targeted next-generation sequencing. J Clin Lab Anal 2019;33:e22700. [PMID: 30390321 DOI: 10.1002/jcla.22700] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
16 Arbones ML, Thomazeau A, Nakano-Kobayashi A, Hagiwara M, Delabar JM. DYRK1A and cognition: A lifelong relationship. Pharmacol Ther. 2019;194:199-221. [PMID: 30268771 DOI: 10.1016/j.pharmthera.2018.09.010] [Cited by in Crossref: 28] [Cited by in F6Publishing: 42] [Article Influence: 7.0] [Reference Citation Analysis]