BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP. A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes. BMC Med Genet 2015;16:31. [PMID: 25948378 DOI: 10.1186/s12881-015-0177-y] [Cited by in Crossref: 17] [Cited by in F6Publishing: 12] [Article Influence: 2.4] [Reference Citation Analysis]
Number Citing Articles
1 Nakano T, Sasahara Y, Kikuchi A, Moriya K, Niizuma H, Niihori T, Shirota M, Funayama R, Nakayama K, Aoki Y, Kure S. Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus. J Med Genet 2022:jmedgenet-2021-108300. [PMID: 35534205 DOI: 10.1136/jmedgenet-2021-108300] [Reference Citation Analysis]
2 Schmit M, Bielinsky AK. Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms. Int J Mol Sci 2021;22:E911. [PMID: 33477564 DOI: 10.3390/ijms22020911] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
3 Park VS, Pursell ZF. POLE proofreading defects: Contributions to mutagenesis and cancer. DNA Repair (Amst) 2019;76:50-9. [PMID: 30818169 DOI: 10.1016/j.dnarep.2019.02.007] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 5.0] [Reference Citation Analysis]
4 Cottineau J, Kottemann MC, Lach FP, Kang YH, Vély F, Deenick EK, Lazarov T, Gineau L, Wang Y, Farina A, Chansel M, Lorenzo L, Piperoglou C, Ma CS, Nitschke P, Belkadi A, Itan Y, Boisson B, Jabot-Hanin F, Picard C, Bustamante J, Eidenschenk C, Boucherit S, Aladjidi N, Lacombe D, Barat P, Qasim W, Hurst JA, Pollard AJ, Uhlig HH, Fieschi C, Michon J, Bermudez VP, Abel L, de Villartay JP, Geissmann F, Tangye SG, Hurwitz J, Vivier E, Casanova JL, Smogorzewska A, Jouanguy E. Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. J Clin Invest 2017;127:1991-2006. [PMID: 28414293 DOI: 10.1172/JCI90727] [Cited by in Crossref: 62] [Cited by in F6Publishing: 43] [Article Influence: 12.4] [Reference Citation Analysis]
5 Eason C, Aleisa A, Jones JR, Prijoles EJ, Wine Lee L. Filling in the gaps on FILS syndrome: A case report and literature review. Pediatr Dermatol 2020;37:915-7. [PMID: 32705701 DOI: 10.1111/pde.14274] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
6 Knapp KM, Jenkins DE, Sullivan R, Harms FL, von Elsner L, Ockeloen CW, de Munnik S, Bongers EMHF, Murray J, Pachter N, Denecke J, Kutsche K, Bicknell LS. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency. Eur J Hum Genet 2021;29:1110-20. [PMID: 33654309 DOI: 10.1038/s41431-021-00839-4] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
7 Bellelli R, Borel V, Logan C, Svendsen J, Cox DE, Nye E, Metcalfe K, O'Connell SM, Stamp G, Flynn HR, Snijders AP, Lassailly F, Jackson A, Boulton SJ. Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis. Mol Cell 2018;70:707-721.e7. [PMID: 29754823 DOI: 10.1016/j.molcel.2018.04.008] [Cited by in Crossref: 33] [Cited by in F6Publishing: 29] [Article Influence: 8.3] [Reference Citation Analysis]
8 Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP; SGP Consortium. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. Am J Hum Genet 2018;103:1038-44. [PMID: 30503519 DOI: 10.1016/j.ajhg.2018.10.024] [Cited by in Crossref: 31] [Cited by in F6Publishing: 24] [Article Influence: 7.8] [Reference Citation Analysis]
9 Parry DA, Tamayo-Orrego L, Carroll P, Marsh JA, Greene P, Murina O, Uggenti C, Leitch A, Káposzta R, Merő G, Nagy A, Orlik B, Kovács-Pászthy B, Quigley AJ, Riszter M, Rankin J, Reijns MAM, Szakszon K, Jackson AP; Scottish Genomes Partnership., Members of the Scottish Genome Partnership include. PRIM1 deficiency causes a distinctive primordial dwarfism syndrome. Genes Dev 2020;34:1520-33. [PMID: 33060134 DOI: 10.1101/gad.340190.120] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
10 Lin PH, Chen M, Tsai LW, Lo C, Yen TC, Huang TY, Chen CK, Fan SC, Kuo SH, Huang CS. Using next-generation sequencing to redefine BRCAness in triple-negative breast cancer. Cancer Sci 2020;111:1375-84. [PMID: 31958182 DOI: 10.1111/cas.14313] [Cited by in Crossref: 16] [Cited by in F6Publishing: 16] [Article Influence: 8.0] [Reference Citation Analysis]
11 Smith HS, Swint JM, Lalani SR, Yamal JM, de Oliveira Otto MC, Castellanos S, Taylor A, Lee BH, Russell HV. Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature. Genet Med 2019;21:3-16. [PMID: 29760485 DOI: 10.1038/s41436-018-0024-6] [Cited by in Crossref: 41] [Cited by in F6Publishing: 38] [Article Influence: 10.3] [Reference Citation Analysis]
12 Stepchenkova EI, Zhuk AS, Cui J, Tarakhovskaya ER, Barbari SR, Shcherbakova PV, Polev DE, Fedorov R, Poliakov E, Rogozin IB, Lada AG, Pavlov YI. Compensation for the absence of the catalytically active half of DNA polymerase ε in yeast by positively selected mutations in CDC28. Genetics 2021;218:iyab060. [PMID: 33844024 DOI: 10.1093/genetics/iyab060] [Reference Citation Analysis]
13 Innes AM, McInnes BL, Dyment DA. Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research. Am J Med Genet C Semin Med Genet 2018;178:387-97. [PMID: 30580484 DOI: 10.1002/ajmg.c.31661] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 4.0] [Reference Citation Analysis]