Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias PJ Schwartz, SG Priori, C Spazzolini, AJ Moss, GM Vincent, C Napolitano, ... Circulation 103 (1), 89-95, 2001 | 2247 | 2001 |
A common nonsense mutation results in α-actinin-3 deficiency in the general population KN North, N Yang, D Wattanasirichaigoon, M Mills, S Easteal, AH Beggs Nature genetics 21 (4), 353-354, 1999 | 588 | 1999 |
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy KJ Nowak, D Wattanasirichaigoon, HH Goebel, M Wilce, K Pelin, ... Nature genetics 23 (2), 208-212, 1999 | 462 | 1999 |
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy K Pelin, P Hilpelä, K Donner, C Sewry, PA Akkari, SD Wilton, ... Proceedings of the National Academy of Sciences 96 (5), 2305-2310, 1999 | 350 | 1999 |
Mutation of the Gene for IsK Associated With Both Jervell and Lange-Nielsen and Romano-Ward Forms of Long-QT Syndrome P Duggal, MR Vesely, D Wattanasirichaigoon, J Villafane, V Kaushik, ... Circulation 97 (2), 142-146, 1998 | 298 | 1998 |
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development CT Gordon, S Xue, G Yigit, H Filali, K Chen, N Rosin, K Yoshiura, ... Nature genetics 49 (2), 249-255, 2017 | 124 | 2017 |
High prevalence of V37I genetic variant in the connexin‐26 (GJB2) gene among non‐syndromic hearing‐impaired and control Thai individuals D Wattanasirichaigoon, C Limwongse, C Jariengprasert, ... Clinical genetics 66 (5), 452-460, 2004 | 111 | 2004 |
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome SB Sousa, D Jenkins, E Chanudet, G Tasseva, M Ishida, G Anderson, ... Nature genetics 46 (1), 70-76, 2014 | 97 | 2014 |
Mutations of the slow muscle α-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy D Wattanasirichaigoon, KJ Swoboda, F Takada, HQ Tong, V Lip, ... Neurology 59 (4), 613-617, 2002 | 92 | 2002 |
Sodium channel abnormalities are infrequent in patients with long QT Syndrome: Identification of two novel SCN5A mutations D Wattanasirichaigoon, MR Vesely, P Duggal, JC Levine, ED Blume, ... American journal of medical genetics 86 (5), 470-476, 1999 | 69 | 1999 |
Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases D Wattanasirichaigoon, C Prasad, G Schneider, JA Evans, BR Korf American Journal of Medical Genetics Part A 122 (1), 63-69, 2003 | 64 | 2003 |
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia N Vatanavicharn, V Champattanachai, S Liammongkolkul, ... Molecular genetics and metabolism 106 (4), 424-429, 2012 | 44 | 2012 |
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13mutations among thai infants S Treepongkaruna, S Jitraruch, P Kodcharin, D Charoenpipop, ... BMC gastroenterology 12, 1-8, 2012 | 41 | 2012 |
Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand S Khositseth, A Sirikanerat, K Wongbenjarat, S Opastirakul, S Khoprasert, ... American journal of kidney diseases 49 (6), 841-850. e1, 2007 | 38 | 2007 |
Haplotypes of IL12B promoter polymorphisms condition susceptibility to severe malaria and functional changes in cytokine levels in Thai adults C Phawong, C Ouma, P Tangteerawatana, J Thongshoob, T Were, ... Immunogenetics 62, 345-356, 2010 | 36 | 2010 |
Molecular analysis of the iduronate‐2‐sulfatase gene in Thai patients with Hunter syndrome S Keeratichamroen, JR Ketudat Cairns, D Wattanasirichaigoon, P Wasant, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2008 | 31 | 2008 |
An economic evaluation of neonatal screening for inborn errors of metabolism using tandem mass spectrometry in Thailand K Thiboonboon, P Leelahavarong, D Wattanasirichaigoon, ... PLoS One 10 (8), e0134782, 2015 | 30 | 2015 |
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder A Hnoonual, W Thammachote, T Tim-Aroon, K Rojnueangnit, ... Scientific reports 7 (1), 12096, 2017 | 28 | 2017 |
Medical students themselves as surrogate patients increased satisfaction, confidence, and performance in practicing injection skill A Chunharas, P Hetrakul, R Boonyobol, T Udomkitti, T Tassanapitikul, ... Medical Teacher 35 (4), 308-313, 2013 | 25 | 2013 |
Expanding the phenotypic spectrum of Lenz–Majewski syndrome: facial palsy, cleft palate and hydrocephalus D Wattanasirichaigoon, A Visudtibhan, S Jaovisidha, J Laothamatas, ... Clinical Dysmorphology 13 (3), 137-142, 2004 | 25 | 2004 |