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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. Among authors: wattanasirichaigoon d. Clin Genet. 2021 Jul;100(1):100-105. doi: 10.1111/cge.13963. Epub 2021 Apr 13. Clin Genet. 2021. PMID: 33822359
Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease.
Kangboonruang K, Pornsukjantra T, Tong-Ngam P, Chokpanuwat T, Tim-Aroon T, Wattanasirichaigoon D, Anurathapan U, Hongeng S, Asavapanumas N, Bhukhai K, Tubsuwan A. Kangboonruang K, et al. Among authors: wattanasirichaigoon d. Stem Cell Res. 2023 Dec;73:103229. doi: 10.1016/j.scr.2023.103229. Epub 2023 Oct 18. Stem Cell Res. 2023. PMID: 37890332 Free article.
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.
Vatanavicharn N, Champattanachai V, Liammongkolkul S, Sawangareetrakul P, Keeratichamroen S, Ketudat Cairns JR, Srisomsap C, Sathienkijkanchai A, Shotelersuk V, Kamolsilp M, Wattanasirichaigoon D, Svasti J, Wasant P. Vatanavicharn N, et al. Among authors: wattanasirichaigoon d. Mol Genet Metab. 2012 Aug;106(4):424-9. doi: 10.1016/j.ymgme.2012.05.012. Epub 2012 May 29. Mol Genet Metab. 2012. PMID: 22695176
A common and two novel GBA mutations in Thai patients with Gaucher disease.
Tammachote R, Tongkobpetch S, Srichomthong C, Phipatthanananti K, Pungkanon S, Wattanasirichaigoon D, Suphapeetiporn K, Shotelersuk V. Tammachote R, et al. Among authors: wattanasirichaigoon d. J Hum Genet. 2013 Sep;58(9):594-9. doi: 10.1038/jhg.2013.60. Epub 2013 May 30. J Hum Genet. 2013. PMID: 23719189
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Thiboonboon K, Leelahavarong P, Wattanasirichaigoon D, Vatanavicharn N, Wasant P, Shotelersuk V, Pangkanon S, Kuptanon C, Chaisomchit S, Teerawattananon Y. Thiboonboon K, et al. Among authors: wattanasirichaigoon d. PLoS One. 2015 Aug 10;10(8):e0134782. doi: 10.1371/journal.pone.0134782. eCollection 2015. PLoS One. 2015. PMID: 26258410 Free PMC article.
Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.
Ngiwsara L, Rojnueangnit K, Wattanasirichaigoon D, Tim-Aroon T, Sawangareetrakul P, Champattanachai V, Ketudat-Cairns JR, Svasti J. Ngiwsara L, et al. Among authors: wattanasirichaigoon d. Exp Ther Med. 2017 Jun;13(6):2989-2996. doi: 10.3892/etm.2017.4303. Epub 2017 Apr 5. Exp Ther Med. 2017. PMID: 28588666 Free PMC article.
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Hnoonual A, Thammachote W, Tim-Aroon T, Rojnueangnit K, Hansakunachai T, Sombuntham T, Roongpraiwan R, Worachotekamjorn J, Chuthapisith J, Fucharoen S, Wattanasirichaigoon D, Ruangdaraganon N, Limprasert P, Jinawath N. Hnoonual A, et al. Among authors: wattanasirichaigoon d. Sci Rep. 2017 Sep 21;7(1):12096. doi: 10.1038/s41598-017-12317-3. Sci Rep. 2017. PMID: 28935972 Free PMC article.
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
Ngiwsara L, Ketudat-Cairns JR, Sawangareetrakul P, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Tim-Aroon T, Wattanasirichaigoon D, Svasti J. Ngiwsara L, et al. Among authors: wattanasirichaigoon d. Ann Hum Genet. 2018 May;82(3):150-157. doi: 10.1111/ahg.12236. Epub 2017 Dec 28. Ann Hum Genet. 2018. PMID: 29282708
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
Rojnueangnit K, Charalsawadi C, Thammachote W, Pradabmuksiri A, Tim-Aroon T, Novelli A, Loddo S, Briuglia S, Concetta CM, Wattanasirichaigoon D, Jinawath N. Rojnueangnit K, et al. Among authors: wattanasirichaigoon d. Mol Genet Genomic Med. 2019 Sep;7(9):e896. doi: 10.1002/mgg3.896. Epub 2019 Aug 7. Mol Genet Genomic Med. 2019. PMID: 31390163 Free PMC article. Clinical Trial.
92 results