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For: Shimojima K, Mano T, Kashiwagi M, Tanabe T, Sugawara M, Okamoto N, Arai H, Yamamoto T. Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. Eur J Med Genet. 2012;55:400-403. [PMID: 22490426 DOI: 10.1016/j.ejmg.2012.02.013] [Cited by in Crossref: 20] [Cited by in F6Publishing: 21] [Article Influence: 2.0] [Reference Citation Analysis]
Number Citing Articles
1 Shimojima K, Ondo Y, Nishi E, Mizuno S, Ito M, Ioi A, Shimizu M, Sato M, Inoue M, Okamoto N, Yamamoto T. Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome. Hum Genome Var 2016;3:16033. [PMID: 27790374 DOI: 10.1038/hgv.2016.33] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.7] [Reference Citation Analysis]
2 Yamamoto T, Shimojima K. Pelizaeus-Merzbacher disease as a chromosomal disorder. Congenit Anom (Kyoto). 2013;53:3-8. [PMID: 23480352 DOI: 10.1111/cga.12005] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 2.0] [Reference Citation Analysis]
3 Yamamoto T, Shimada S, Shimojima K. Fiber-fluorescence in situ hybridization analyses as a diagnostic application for orientation of microduplications. World J Med Genet 2013; 3(2): 5-8 [DOI: 10.5496/wjmg.v3.i2.5] [Reference Citation Analysis]
4 Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet 2015;11:e1005050. [PMID: 25749076 DOI: 10.1371/journal.pgen.1005050] [Cited by in Crossref: 39] [Cited by in F6Publishing: 36] [Article Influence: 5.6] [Reference Citation Analysis]
5 Soler-Alfonso C, Carvalho CM, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP. CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. Eur J Hum Genet. 2014;22:1071-1076. [PMID: 24424125 DOI: 10.1038/ejhg.2013.302] [Cited by in Crossref: 25] [Cited by in F6Publishing: 25] [Article Influence: 3.1] [Reference Citation Analysis]
6 Poot M. Double, Double Toil and Trouble. Mol Syndromol 2015;6:106-7. [PMID: 26733774 DOI: 10.1159/000437009] [Reference Citation Analysis]
7 Masliah-Planchon J, Dupont C, Vartzelis G, Trimouille A, Eymard-Pierre E, Gay-Bellile M, Renaldo F, Dorboz I, Pagan C, Quentin S, Elmaleh M, Kotsogianni C, Konstantelou E, Drunat S, Tabet AC, Boespflug-Tanguy O. Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease. BMC Med Genet 2015;16:77. [PMID: 26329556 DOI: 10.1186/s12881-015-0226-6] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
8 Imaizumi T, Yamamoto-Shimojima K, Yanagishita T, Ondo Y, Yamamoto T. Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing. J Hum Genet 2020;65:735-41. [PMID: 32355308 DOI: 10.1038/s10038-020-0762-6] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
9 [DOI: 10.1101/169557] [Cited by in Crossref: 35] [Cited by in F6Publishing: 10] [Reference Citation Analysis]
10 Osório MJ, Goldman SA. Neurogenetics of Pelizaeus-Merzbacher disease. Handb Clin Neurol 2018;148:701-22. [PMID: 29478609 DOI: 10.1016/B978-0-444-64076-5.00045-4] [Cited by in Crossref: 14] [Cited by in F6Publishing: 9] [Article Influence: 3.5] [Reference Citation Analysis]
11 Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR. Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Hum Genet 2012;131:1895-910. [PMID: 22890305 DOI: 10.1007/s00439-012-1216-9] [Cited by in Crossref: 25] [Cited by in F6Publishing: 23] [Article Influence: 2.5] [Reference Citation Analysis]
12 Weckselblatt B, Rudd MK. Human Structural Variation: Mechanisms of Chromosome Rearrangements. Trends Genet 2015;31:587-99. [PMID: 26209074 DOI: 10.1016/j.tig.2015.05.010] [Cited by in Crossref: 101] [Cited by in F6Publishing: 90] [Article Influence: 14.4] [Reference Citation Analysis]
13 Bahrambeigi V, Song X, Sperle K, Beck CR, Hijazi H, Grochowski CM, Gu S, Seeman P, Woodward KJ, Carvalho CMB, Hobson GM, Lupski JR. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med 2019;11:80. [PMID: 31818324 DOI: 10.1186/s13073-019-0676-0] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.7] [Reference Citation Analysis]
14 Newman S, Hermetz KE, Weckselblatt B, Rudd MK. Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. Am J Hum Genet 2015;96:208-20. [PMID: 25640679 DOI: 10.1016/j.ajhg.2014.12.017] [Cited by in Crossref: 86] [Cited by in F6Publishing: 78] [Article Influence: 12.3] [Reference Citation Analysis]
15 Su P, Wang Y, Cooper DN, Zhu W, Huang D, Férec C, Wang Y, Chen JM. Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas. Hum Mutat 2015;36:758-63. [PMID: 25990786 DOI: 10.1002/humu.22815] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.7] [Reference Citation Analysis]
16 Yanagishita T, Imaizumi T, Yamamoto-Shimojima K, Yano T, Okamoto N, Nagata S, Yamamoto T. Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern. Hum Mutat 2020;41:2119-27. [PMID: 32906213 DOI: 10.1002/humu.24108] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
17 Ishmukhametova A, Chen J, Bernard R, de Massy B, Baudat F, Boyer A, Méchin D, Thorel D, Chabrol B, Vincent M, Khau Van Kien P, Claustres M, Tuffery-giraud S. Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in the DMD Gene. Human Mutation 2013;34:1080-4. [DOI: 10.1002/humu.22353] [Cited by in Crossref: 19] [Cited by in F6Publishing: 17] [Article Influence: 2.1] [Reference Citation Analysis]
18 Dittwald P, Gambin T, Gonzaga-Jauregui C, Carvalho CM, Lupski JR, Stankiewicz P, Gambin A. Inverted low-copy repeats and genome instability--a genome-wide analysis. Hum Mutat 2013;34:210-20. [PMID: 22965494 DOI: 10.1002/humu.22217] [Cited by in Crossref: 38] [Cited by in F6Publishing: 37] [Article Influence: 3.8] [Reference Citation Analysis]
19 Carvalho CM, Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MV, Liu P, Johnson D, Stankiewicz P, Brown CW, Shaw CA, Hurles ME, Ira G, Hastings PJ, Brunner HG, Lupski JR; DDD Study. Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet 2015;96:555-64. [PMID: 25799105 DOI: 10.1016/j.ajhg.2015.01.021] [Cited by in Crossref: 38] [Cited by in F6Publishing: 36] [Article Influence: 5.4] [Reference Citation Analysis]
20 Sedlazeck FJ, Rescheneder P, Smolka M, Fang H, Nattestad M, von Haeseler A, Schatz MC. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods 2018;15:461-8. [PMID: 29713083 DOI: 10.1038/s41592-018-0001-7] [Cited by in Crossref: 512] [Cited by in F6Publishing: 370] [Article Influence: 128.0] [Reference Citation Analysis]
21 Shirai K, Higashi Y, Shimojima K, Yamamoto T. An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment. Am J Med Genet A 2017;173:1124-7. [PMID: 28328133 DOI: 10.1002/ajmg.a.38134] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
22 Yamamoto T, Matsuo M, Shimada S, Sangu N, Shimojima K, Aso S, Saito K. De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features. Mol Cytogenet 2013;6:15. [PMID: 23552394 DOI: 10.1186/1755-8166-6-15] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
23 Carvalho CM, Lupski JR. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet 2016;17:224-38. [PMID: 26924765 DOI: 10.1038/nrg.2015.25] [Cited by in Crossref: 339] [Cited by in F6Publishing: 260] [Article Influence: 56.5] [Reference Citation Analysis]