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Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Polubothu S, Zecchin D, Al-Olabi L, Lionarons DA, Harland M, Horswell S, Thomas AC, Hunt L, Wlodarchak N, Aguilera P, Brand S, Bryant D, Carrera C, Chen H, Elgar G, Harwood CA, Howell M, Larue L, Loughlin S, MacDonald J, Malvehy J, Barberan SM, da Silva VM, Molina M, Morrogh D, Moulding D, Nsengimana J, Pittman A, Puig-Butillé JA, Parmar K, Sebire NJ, Scherer S, Stadnik P, Stanier P, Tell G, Waelchli R, Zarrei M, Puig S, Bataille V, Xing Y, Healy E, Moore GE, Di WL, Newton-Bishop J, Downward J, Kinsler VA. Polubothu S, et al. Among authors: zarrei m. Genet Med. 2021 Sep;23(9):1636-1647. doi: 10.1038/s41436-021-01204-y. Epub 2021 Jun 18. Genet Med. 2021. PMID: 34145395 Free PMC article.
A copy number variation map of the human genome.
Zarrei M, MacDonald JR, Merico D, Scherer SW. Zarrei M, et al. Nat Rev Genet. 2015 Mar;16(3):172-83. doi: 10.1038/nrg3871. Epub 2015 Feb 3. Nat Rev Genet. 2015. PMID: 25645873 Review.
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Zarrei M, Fehlings DL, Mawjee K, Switzer L, Thiruvahindrapuram B, Walker S, Merico D, Casallo G, Uddin M, MacDonald JR, Gazzellone MJ, Higginbotham EJ, Campbell C, deVeber G, Frid P, Gorter JW, Hunt C, Kawamura A, Kim M, McCormick A, Mesterman R, Samdup D, Marshall CR, Stavropoulos DJ, Wintle RF, Scherer SW. Zarrei M, et al. Genet Med. 2018 Feb;20(2):172-180. doi: 10.1038/gim.2017.83. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771244 Free PMC article.
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Woodbury-Smith M, Zarrei M, Wei J, Thiruvahindrapuram B, O'Connor I, Paterson AD, Yuen RKC, Dastan J, Stavropoulos DJ, Howe JL, Thompson A, Parlier M, Fernandez B, Piven J, Anagnostou E, Scherer SW, Vieland VJ, Szatmari P. Woodbury-Smith M, et al. Among authors: zarrei m. Am J Med Genet B Neuropsychiatr Genet. 2020 Jul;183(5):268-276. doi: 10.1002/ajmg.b.32785. Epub 2020 May 6. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 32372567
55 results