Page 91 - 22-0424
P. 91

The International Journal of the Royal Society of Thailand
                                                                                         Volume XI - 2019



                Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, et al. Biallelic
                        expansion of an intronic repeat in RFC1 is a common cause of late-onset
                        ataxia. Nat Genet. 2019;51(4):649–658. doi:10.1038/s41588-019-0372-4.

                Ellis CA, Petrovski S, Berkovic SF. Epilepsy genetics: clinical impacts and
                        biological insights. Lancet Neurol, 2020;19:93–100. doi:https://doi.org/

                        10.1016/S1474-4422(19)30269-8.
                Hotta A and Yamanaka S. From Genomics to Gene Therapy: Induced Pluripotent
                        Stem Cells Meet Genome Editing. Annu Rev Genet. 2015;49:47–70. doi:
                        10.1146/annurev-genet-112414-054926.

                Ingrungruanglert P, Amarinthnukrowh P, Rungsiwiwut R, Maneesri-le Grand S,
                        Sosothikul D, Suphapeetiporn K, et al. Wiskott-Aldrich syndrome iPS cells
                        produce megakaryocytes with defects in cytoskeletal rearrangement and
                        proplatelet formation. Thromb Haemost. 2015;113:792–805. doi:10.1160/
                        TH14-06-0503.

                Klein CJ and Foroud TM. Neurology Individualized Medicine: When to Use
                        Next-Generation Sequencing Panels. Mayo Clin Proc. 2017;92:292–305. doi:
                        10.1016/j.mayocp.2016.09.008.

                Kuptanon C, Srichomthong C, Ittiwut C, Wechapinan T, Sri-Udomkajorn S,
                        Iamopas O, et al. Whole exome sequencing revealed mutations in FBXL4,
                        UNC80, and ADK in Thai patients with severe intellectual disabilities.
                        Gene. 2019;696:21–27. doi:10.1016/j.gene.2019.01.049.

                Li HL, Fujimoto N, Sasakawa N, Shirai S, Ohkame T, Sakuma T et al. Precise
                        correction of the dystrophin gene in duchenne muscular dystrophy patient
                        induced pluripotent stem cells by TALEN and CRISPR-Cas9. Stem Cell
                        Reports. 2015;4(1):143–154. doi:10.1016/j.stemcr.2014.10.013.

                Lindy AS, Stosser MB, Butler E, Downtain-Pickersgill C, Shanmugham  A,
                        Retterer K, et al. Diagnostic outcomes for genetic testing of 70 genes in
                        8565 patients with epilepsy and neurodevelopmental disorders. Epilepsia.
                        2018;59:1062–1071. doi:10.1111/epi.14074.

                Ma N, Liao B, Zhang H, Wang L, Shan Y, Xue Y, et al. Transcription activator-like
                        effector nuclease (TALEN)-mediated gene correction in integration-free
                        beta-thalassemia induced pluripotent stem cells. J Biol Chem. 2013;288:34671–
                        34679. doi:10.1074/jbc.M113.496174.



                     Ponghatai Boonsimma
                     Kanya Suphapeetiporn                                                           85



                                                                                                  11/7/2565 BE   13:30
       _22-0424(077-088)8.indd   85                                                               11/7/2565 BE   13:30
       _22-0424(077-088)8.indd   85
   86   87   88   89   90   91   92   93   94   95   96