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Page 1
Unrestrained ESCRT-III drives micronuclear catastrophe and chromosome fragmentation.
Vietri M, Schultz SW, Bellanger A, Jones CM, Petersen LI, Raiborg C, Skarpen E, Pedurupillay CRJ, Kjos I, Kip E, Timmer R, Jain A, Collas P, Knorr RL, Grellscheid SN, Kusumaatmaja H, Brech A, Micci F, Stenmark H, Campsteijn C. Vietri M, et al. Among authors: pedurupillay crj. Nat Cell Biol. 2020 Jul;22(7):856-867. doi: 10.1038/s41556-020-0537-5. Epub 2020 Jun 29. Nat Cell Biol. 2020. PMID: 32601372
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S. Lemke JR, et al. Among authors: pedurupillay cr. Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6. Neurology. 2016. PMID: 27164704 Free PMC article.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. Gabriele M, et al. Among authors: pedurupillay crj. Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006. Am J Hum Genet. 2017. PMID: 28575647 Free PMC article.
A Sri Lankan child with 49,XXXXY syndrome.
Dissanayake VH, Bandarage P, Pedurupillay CR, Jayasekara RW. Dissanayake VH, et al. Among authors: pedurupillay cr. Indian J Hum Genet. 2010 Sep;16(3):164-5. doi: 10.4103/0971-6866.73413. Indian J Hum Genet. 2010. PMID: 21206706 Free PMC article.