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For: Knapp KM, Sullivan R, Murray J, Gimenez G, Arn P, D'Souza P, Gezdirici A, Wilson WG, Jackson AP, Ferreira C, Bicknell LS. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. J Med Genet 2020;57:195-202. [PMID: 31784481 DOI: 10.1136/jmedgenet-2019-106396] [Cited by in Crossref: 10] [Cited by in F6Publishing: 15] [Article Influence: 3.3] [Reference Citation Analysis]
Number Citing Articles
1 Mcquaid ME, Ahmed K, Tran S, Rousseau J, Shaheen R, Kernohan KD, Yuki KE, Grover P, Dreseris ES, Ahmed S, Dupuis L, Stimec J, Shago M, Al-hassnan ZN, Tremblay R, Maass PG, Wilson MD, Grunebaum E, Boycott KM, Boisvert F, Maddirevula S, Faqeih EA, Almanjomi F, Khan ZU, Alkuraya FS, Campeau PM, Kannu P, Campos EI, Wurtele H. Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome. JCI Insight 2022;7:e155648. [DOI: 10.1172/jci.insight.155648] [Reference Citation Analysis]
2 Putri IL, Stephanie A, Pramanasari R, Kon M, Wungu CDK. The role of genetic factors in microtia: A systematic review. F1000Res 2022;11:537. [DOI: 10.12688/f1000research.111995.1] [Reference Citation Analysis]
3 Nerakh G, Vineeth VS, Tallapaka K, Nair L, Dalal A, Aggarwal S. Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum. Am J Med Genet A 2022. [PMID: 35298084 DOI: 10.1002/ajmg.a.62725] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
4 Zabnenkova V, Shchagina O, Makienko O, Matyushchenko G, Ryzhkova O. Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome. Appl Clin Genet 2022;15:1-10. [PMID: 35023948 DOI: 10.2147/TACG.S342804] [Reference Citation Analysis]
5 Leask M, Carleton C, Leeke B, Newman T, Antoun J, Farella M, Horsfield J. Riboceine Rescues Auranofin-Induced Craniofacial Defects in Zebrafish. Antioxidants (Basel) 2021;10:1964. [PMID: 34943067 DOI: 10.3390/antiox10121964] [Reference Citation Analysis]
6 Nabais Sá MJ, Miller KA, McQuaid M, Koelling N, Wilkie AOM, Wurtele H, de Brouwer APM, Oliveira J. Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis. J Med Genet 2021:jmedgenet-2020-107572. [PMID: 34353863 DOI: 10.1136/jmedgenet-2020-107572] [Cited by in F6Publishing: 4] [Reference Citation Analysis]
7 Putscher E, Hecker M, Fitzner B, Lorenz P, Zettl UK. Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceExpress. Int J Mol Sci 2021;22:5154. [PMID: 34068052 DOI: 10.3390/ijms22105154] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
8 Bellelli R, Boulton SJ. Spotlight on the Replisome: Aetiology of DNA Replication-Associated Genetic Diseases. Trends in Genetics 2021;37:317-36. [DOI: 10.1016/j.tig.2020.09.008] [Cited by in Crossref: 4] [Cited by in F6Publishing: 12] [Article Influence: 4.0] [Reference Citation Analysis]
9 Venkataramanappa S, Schütz D, Saaber F, Kumar PA, Abe P, Schulz S, Stumm R. The microcephaly gene Donson is essential for progenitors of cortical glutamatergic and GABAergic neurons. PLoS Genet 2021;17:e1009441. [PMID: 33739968 DOI: 10.1371/journal.pgen.1009441] [Reference Citation Analysis]
10 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: 7] [Article Influence: 1.0] [Reference Citation Analysis]
11 Knapp KM, Fellows B, Aggarwal S, Dalal A, Bicknell LS. A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis. Eur J Med Genet 2021;64:104182. [PMID: 33639314 DOI: 10.1016/j.ejmg.2021.104182] [Cited by in F6Publishing: 5] [Reference Citation Analysis]
12 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: 11] [Cited by in F6Publishing: 4] [Article Influence: 11.0] [Reference Citation Analysis]
13 Knapp KM, Murray J, Temple IK, Bicknell LS. Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. Am J Med Genet A 2021;185:871-6. [PMID: 33338304 DOI: 10.1002/ajmg.a.62016] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
14 Khan AA, Reddy C, Saini AG, Vyas S. Meier-Gorlin syndrome presenting as early infantile epileptic encephalopathy. BMJ Case Rep 2020;13:e235468. [PMID: 32843414 DOI: 10.1136/bcr-2020-235468] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
15 Zhang J, Bellani MA, James RC, Pokharel D, Zhang Y, Reynolds JJ, McNee GS, Jackson AP, Stewart GS, Seidman MM. DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain. Nat Commun 2020;11:3951. [PMID: 32769987 DOI: 10.1038/s41467-020-17449-1] [Cited by in Crossref: 7] [Cited by in F6Publishing: 10] [Article Influence: 3.5] [Reference Citation Analysis]