| Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor EC Dell’Angelica, V Shotelersuk, RC Aguilar, WA Gahl, JS Bonifacino Molecular cell 3 (1), 11-21, 1999 | 800 | 1999 |
| Carbamazepine and phenytoin induced Stevens‐Johnson syndrome is associated with HLA‐B* 1502 allele in Thai population C Locharernkul, J Loplumlert, C Limotai, W Korkij, T Desudchit, ... Epilepsia 49 (12), 2087-2091, 2008 | 552 | 2008 |
| Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus W Yang, N Shen, DQ Ye, Q Liu, Y Zhang, XX Qian, N Hirankarn, D Ying, ... PLoS genetics 6 (2), e1000841, 2010 | 458 | 2010 |
| Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky–Pudlak syndrome) WA Gahl, M Brantly, MI Kaiser-Kupfer, F Iwata, S Hazelwood, ... New England Journal of Medicine 338 (18), 1258-1265, 1998 | 335 | 1998 |
| Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians W Yang, H Tang, Y Zhang, X Tang, J Zhang, L Sun, J Yang, Y Cui, ... The American Journal of Human Genetics 92 (1), 41-51, 2013 | 224 | 2013 |
| Whole-genome sequencing reveals host factors underlying critical COVID-19 A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ... Nature 607 (7917), 97-103, 2022 | 222 | 2022 |
| MLL2 and KDM6A mutations in patients with Kabuki syndrome N Miyake, E Koshimizu, N Okamoto, S Mizuno, T Ogata, T Nagai, T Kosho, ... American journal of medical genetics Part A 161 (9), 2234-2243, 2013 | 205 | 2013 |
| CTNS mutations in an American-based population of cystinosis patients V Shotelersuk, D Larson, Y Anikster, G McDowell, R Lemons, I Bernardini, ... The American Journal of Human Genetics 63 (5), 1352-1362, 1998 | 197 | 1998 |
| Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1 M Brantly, NA Avila, V Shotelersuk, C Lucero, M Huizing, WA Gahl Chest 117 (1), 129-136, 2000 | 195 | 2000 |
| The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis … JW Touchman, Y Anikster, NL Dietrich, VVB Maduro, G McDowell, ... Genome research 10 (2), 165-173, 2000 | 156 | 2000 |
| Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects P Leoyklang, K Suphapeetiporn, P Siriwan, T Desudchit, ... Human mutation 28 (7), 732-738, 2007 | 151 | 2007 |
| 22q11. 2 deletion syndrome in diverse populations P Kruszka, YA Addissie, DE McGinn, AR Porras, E Biggs, M Share, ... American Journal of Medical Genetics Part A 173 (4), 879-888, 2017 | 139 | 2017 |
| Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations Y Anikster, C Lucero, J Guo, M Huizing, V Shotelersuk, I Bernardini, ... Pediatric research 47 (1), 17-17, 2000 | 137 | 2000 |
| MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta U Lindert, WA Cabral, S Ausavarat, S Tongkobpetch, K Ludin, AM Barnes, ... Nature communications 7 (1), 11920, 2016 | 136 | 2016 |
| A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation V Shotelersuk, EC Dell’Angelica, L Hartnell, JS Bonifacino, WA Gahl The American journal of medicine 108 (5), 423-427, 2000 | 124 | 2000 |
| A mutation of the p63 gene in non-syndromic cleft lip P Leoyklang, P Siriwan, V Shotelersuk Journal of medical genetics 43 (6), e28-e28, 2006 | 112 | 2006 |
| Down syndrome in diverse populations P Kruszka, AR Porras, AK Sobering, FA Ikolo, S La Qua, V Shotelersuk, ... American Journal of Medical Genetics Part A 173 (1), 42-53, 2017 | 106 | 2017 |
| NUDT15 c. 415C> T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia K Chiengthong, C Ittiwut, S Muensri, J Sophonphan, D Sosothikul, ... Haematologica 101 (1), e24, 2016 | 103 | 2016 |
| TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4 P Yeetong, M Pongpanich, C Srichomthong, A Assawapitaksakul, ... Brain 142 (11), 3360-3366, 2019 | 100 | 2019 |
| MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population S Tongkobpetch, P Siriwan, V Shotelersuk Journal of human genetics 51 (8), 671-676, 2006 | 99 | 2006 |
