CNOT2

Publications

Alesi V et al. A heterozygous, intra-genic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome. Am J Med Genet. Part A. 2019;179(8):1615–1621. PMID: 31145527.

Alesi V et al. Reassessment of the 12q15 deletion syndrome critical region. Eur J Med Genet. 2017;60(4):220–223. PMID: 28159701.

Miller JE et al. Ccr4-Not complex: The control freak of eukaryotic cells. Crit Rev Biochem Mol Biol. 2012; 47(4):315–333. PMID: 22416820.

Niceta M et al. Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype. Clin Genet. 2023;103(2):156-166. PMID: 36224108.

Royer-Bertrand B et al. CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures. Am J Med Genet A. 2021;185:2602-2606 PMID: 34018673.

Uehara T et al. CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome. Am J Med Genet. Part A. 2019;179(4):659–662. PMID: 30768759.

Uehara T et al. CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features. Am J Med Genet. Part A. 2019;179(12):2506–2509. PMID: 31512373.

Yamashita A et al. Concerted action of poly(A) nucleases and decapping enzyme in mammalian mRNA turnover. Nat Struct Mol Biol. 2005;12(12):1054–1063. PMID: 16284618.