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Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A, Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O, Moldovan GL. Edvardson S, et al. Among authors: nicolae cm. Am J Hum Genet. 2019 Jan 3;104(1):179-185. doi: 10.1016/j.ajhg.2018.11.018. Epub 2018 Dec 27. Am J Hum Genet. 2019. PMID: 30595371 Free PMC article.
HUWE1 interacts with PCNA to alleviate replication stress.
Choe KN, Nicolae CM, Constantin D, Imamura Kawasawa Y, Delgado-Diaz MR, De S, Freire R, Smits VA, Moldovan GL. Choe KN, et al. Among authors: nicolae cm. EMBO Rep. 2016 Jun;17(6):874-86. doi: 10.15252/embr.201541685. Epub 2016 May 4. EMBO Rep. 2016. PMID: 27146073 Free PMC article.
PARP10 deficiency manifests by severe developmental delay and DNA repair defect.
Shahrour MA, Nicolae CM, Edvardson S, Ashhab M, Galvan AM, Constantin D, Abu-Libdeh B, Moldovan GL, Elpeleg O. Shahrour MA, et al. Among authors: nicolae cm. Neurogenetics. 2016 Oct;17(4):227-232. doi: 10.1007/s10048-016-0493-1. Epub 2016 Sep 13. Neurogenetics. 2016. PMID: 27624574 Free PMC article.
ERKing Trypanosoma: PCNA phosphorylation as novel target.
Nicolae CM, Moldovan GL. Nicolae CM, et al. Cell Cycle. 2016 Dec;15(23):3167-3168. doi: 10.1080/15384101.2016.1232081. Epub 2016 Sep 16. Cell Cycle. 2016. PMID: 27635479 Free PMC article. No abstract available.
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O. Edvardson S, et al. Among authors: nicolae cm. Am J Hum Genet. 2017 Aug 3;101(2):267-273. doi: 10.1016/j.ajhg.2017.07.002. Am J Hum Genet. 2017. PMID: 28777933 Free PMC article.
48 results