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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. Clin Genet. 2021 Jul;100(1):100-105. doi: 10.1111/cge.13963. Epub 2021 Apr 13. Clin Genet. 2021. PMID: 33822359
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: kamolvisit 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
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: kamolvisit w. Sci Rep. 2022 Sep 14;12(1):15420. doi: 10.1038/s41598-022-19334-x. Sci Rep. 2022. PMID: 36104364 Free PMC article.
Novel Variants and Phenotypes in NEUROG3-Associated Syndrome.
Wejaphikul K, Srilanchakon K, Kamolvisit W, Jantasuwan S, Santawong K, Tongkobpetch S, Theerapanon T, Damrongmanee A, Hongsawong N, Ukarapol N, Dejkhamron P, Supornsilchai V, Porntaveetus T, Shotelersuk V. Wejaphikul K, et al. Among authors: kamolvisit w. J Clin Endocrinol Metab. 2022 Dec 17;108(1):52-58. doi: 10.1210/clinem/dgac554. J Clin Endocrinol Metab. 2022. PMID: 36149814
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: kamolvisit 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.
Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.
Chokvithaya S, Caengprasath N, Buasong A, Jantasuwan S, Santawong K, Leela-Adisorn N, Tongkobpetch S, Ittiwut C, Saengow VE, Kamolvisit W, Boonsimma P, Bongsebandhu-Phubhakdi S, Shotelersuk V. Chokvithaya S, et al. Among authors: kamolvisit w. Sci Rep. 2023 Feb 27;13(1):3328. doi: 10.1038/s41598-023-29924-y. Sci Rep. 2023. PMID: 36849527 Free PMC article.
Using an experiment among clinical experts to determine the cost and clinical impact of rapid whole exome sequencing in acute pediatric settings.
Kapol N, Kamolvisit W, Kongkiattikul L, Huang-Ku E, Sribundit N, Lochid-Amnuay S, Samprasit N, Dulsamphan T, Juntama P, Suwanpanich C, Boonsimma P, Shotelersuk V, Teerawattananon Y. Kapol N, et al. Among authors: kamolvisit w. Front Pediatr. 2023 Jul 3;11:1204853. doi: 10.3389/fped.2023.1204853. eCollection 2023. Front Pediatr. 2023. PMID: 37465423 Free PMC article.
18 results