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Page 1
Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency.
Rojnueangnit K, Maneechai P, Thaweekul P, Piriyanon P, Khositseth S, Ittiwut C, Chetruengchai W, Kamolvisit W, Theerapanon T, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. Rojnueangnit K, et al. Among authors: chetruengchai w. Eur J Med Genet. 2020 Dec;63(12):104086. doi: 10.1016/j.ejmg.2020.104086. Epub 2020 Oct 9. Eur J Med Genet. 2020. PMID: 33045405
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: chetruengchai w. Clin Genet. 2021 Dec;100(6):703-712. doi: 10.1111/cge.14060. Epub 2021 Sep 22. Clin Genet. 2021. PMID: 34496037
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.
Boonsimma P, Ittiwut C, Kamolvisit W, Ittiwut R, Chetruengchai W, Phokaew C, Srichonthong C, Poonmaksatit S, Desudchit T, Suphapeetiporn K, Shotelersuk V. Boonsimma P, et al. Among authors: chetruengchai w. Eur J Hum Genet. 2023 Feb;31(2):179-187. doi: 10.1038/s41431-022-01202-x. Epub 2022 Oct 5. Eur J Hum Genet. 2023. PMID: 36198807 Free PMC article.
Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.
Kamolvisit W, Phowthongkum P, Boonsimma P, Kuptanon C, Rojnueangnit K, Wattanasirichaigoon D, Chanvanichtrakool M, Phuaksaman C, Wiromrat P, Srichomthong C, Ittiwut C, Phokaew C, Ittiwut R, Assawapitaksakul A, Chetruengchai W, Buasong A, Suphapeetiporn K, Shotelersuk V. Kamolvisit W, et al. Among authors: chetruengchai w. Clin Genet. 2021 Jul;100(1):100-105. doi: 10.1111/cge.13963. Epub 2021 Apr 13. Clin Genet. 2021. PMID: 33822359
Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.
Tangsricharoen T, Natesirinilkul R, Phusua A, Fanhchaksai K, Ittiwut C, Chetruengchai W, Juntharaniyom M, Charoenkwan P, Viprakasit V, Phokaew C, Shotelersuk V. Tangsricharoen T, et al. Among authors: chetruengchai w. Br J Haematol. 2021 Aug;194(3):626-634. doi: 10.1111/bjh.17616. Epub 2021 Jul 5. Br J Haematol. 2021. PMID: 34227100
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: chetruengchai w. Sci Rep. 2022 Sep 14;12(1):15420. doi: 10.1038/s41598-022-19334-x. Sci Rep. 2022. PMID: 36104364 Free PMC article.
22 results