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2003 2
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Page 1
The Thai reference exome (T-REx) variant database.
Shotelersuk V, Wichadakul D, Ngamphiw C, Srichomthong C, Phokaew C, Wilantho A, Pakchuen S, Nakhonsri V, Shaw PJ, Wasitthankasem R, Piriyapongsa J, Wangkumhang P, Assawapitaksakul A, Chetruengchai W, Lapphra K, Khuninthong A, Makarawate P, Suphapeetiporn K, Mahasirimongkol S, Satproedprai N, Porntaveetus T, Pisitkun P, Praphanphoj V, Kantaputra P, Tassaneeyakul W, Tongsima S. Shotelersuk V, et al. Among authors: srichomthong c. Clin Genet. 2021 Dec;100(6):703-712. doi: 10.1111/cge.14060. Epub 2021 Sep 22. Clin Genet. 2021. PMID: 34496037
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
Yeetong P, Dembélé ME, Pongpanich M, Cissé L, Srichomthong C, Maiga AB, Dembélé K, Assawapitaksakul A, Bamba S, Yalcouyé A, Diarra S, Mefoung SE, Rakwongkhachon S, Traoré O, Tongkobpetch S, Fischbeck KH, Gahl WA, Guinto CO, Shotelersuk V, Landouré G. Yeetong P, et al. Among authors: srichomthong c. Mov Disord. 2024 Jan;39(1):164-172. doi: 10.1002/mds.29654. Epub 2023 Nov 22. Mov Disord. 2024. PMID: 37994247
Cole-Carpenter syndrome in a patient from Thailand.
Porntaveetus T, Theerapanon T, Srichomthong C, Shotelersuk V. Porntaveetus T, et al. Among authors: srichomthong c. Am J Med Genet A. 2018 Aug;176(8):1706-1710. doi: 10.1002/ajmg.a.40358. Epub 2018 Jul 31. Am J Med Genet A. 2018. PMID: 30063094
Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy.
Yeetong P, Kulsirichawaroj P, Kumutpongpanich T, Srichomthong C, Od-Ek P, Rakwongkhachon S, Thamcharoenvipas T, Sanmaneechai O, Pongpanich M, Shotelersuk V. Yeetong P, et al. Among authors: srichomthong c. Neuromuscul Disord. 2023 Jul;33(7):551-556. doi: 10.1016/j.nmd.2023.05.004. Epub 2023 May 13. Neuromuscul Disord. 2023. PMID: 37320968 Free article.
Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma.
Isaranuwatchai S, Chanakul A, Ittiwut C, Srichomthong C, Shotelersuk V, Praditpornsilpa K, Suphapeetiporn K. Isaranuwatchai S, et al. Among authors: srichomthong c. Nephron. 2021;145(3):311-316. doi: 10.1159/000514293. Epub 2021 Mar 16. Nephron. 2021. PMID: 33725694
Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1.
Yeetong P, Chunharas C, Pongpanich M, Bennett MF, Srichomthong C, Pasutharnchat N, Suphapeetiporn K, Bahlo M, Shotelersuk V. Yeetong P, et al. Among authors: srichomthong c. Eur J Hum Genet. 2021 Feb;29(2):343-348. doi: 10.1038/s41431-020-00729-1. Epub 2020 Sep 24. Eur J Hum Genet. 2021. PMID: 32973343 Free PMC article.
HLA-B*46:01:01:01 and HLA-DRB1*09:01:02:01 are associated with anti-rHuEPO-induced pure red cell aplasia.
Suttichet TB, Chamnanphon M, Pongpanich M, Chokyakorn S, Kupatawintu P, Srichomthong C, Chetruengchai W, Chuntakaruk H, Rungrotmongkol T, Chariyavilaskul P, Shotelersuk V, Praditpornsilpa K. Suttichet TB, et al. Among authors: srichomthong c. Sci Rep. 2023 Dec 20;13(1):22759. doi: 10.1038/s41598-023-50211-3. Sci Rep. 2023. PMID: 38123661 Free PMC article.
A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases.
Sinthuwiwat T, Buranapraditkun S, Kamolvisit W, Tongkobpetch S, Chetruengchai W, Srichomthong C, Assawapitaksakul A, Phokaew C, Kueanjinda P, Palaga T, Boonpiyathad T, Suphapeetiporn K, Hirankarn N, Shotelersuk V. Sinthuwiwat T, et al. Among authors: srichomthong c. Sci Rep. 2022 Sep 14;12(1):15420. doi: 10.1038/s41598-022-19334-x. Sci Rep. 2022. PMID: 36104364 Free PMC article.
46 results