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Page 1
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Alkhunaizi E, et al. Among authors: injeyan m. Am J Med Genet A. 2019 Mar;179(3):386-396. doi: 10.1002/ajmg.a.61025. Epub 2019 Jan 16. Am J Med Genet A. 2019. PMID: 30652412
Pregnancy in 3M syndrome.
Cusimano MC, Chitayat D, Injeyan M, Geary M. Cusimano MC, et al. Among authors: injeyan m. J Obstet Gynaecol. 2018 Apr;38(3):421-422. doi: 10.1080/01443615.2017.1360849. Epub 2017 Oct 19. J Obstet Gynaecol. 2018. PMID: 29046114 Free article. No abstract available.
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
Dupont MA, Humbert C, Huber C, Siour Q, Guerrera IC, Jung V, Christensen A, Pouliet A, Garfa-Traoré M, Nitschké P, Injeyan M, Millar K, Chitayat D, Shannon P, Girisha KM, Shukla A, Mechler C, Lorentzen E, Benmerah A, Cormier-Daire V, Jeanpierre C, Saunier S, Delous M. Dupont MA, et al. Among authors: injeyan m. Hum Mol Genet. 2019 Aug 15;28(16):2720-2737. doi: 10.1093/hmg/ddz091. Hum Mol Genet. 2019. PMID: 31042281