| Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer MH Wei, O Toure, GM Glenn, M Pithukpakorn, L Neckers, C Stolle, ... Journal of medical genetics 43 (1), 18-27, 2006 | 351 | 2006 |
| Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer M Pithukpakorn, MH Wei, O Toure, PJ Steinbach, GM Glenn, B Zbar, ... Journal of medical genetics 43 (9), 755-762, 2006 | 64 | 2006 |
| HLA-DRB1 and HLA-DQB1 are associated with adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies M Pithukpakorn, E Roothumnong, N Angkasekwinai, B Suktitipat, ... Plos one 10 (5), e0128481, 2015 | 55 | 2015 |
| Disorders of pyruvate metabolism and the tricarboxylic acid cycle M Pithukpakorn Molecular genetics and metabolism 85 (4), 243-246, 2005 | 53 | 2005 |
| Clinical outcome and laboratory markers for predicting disease activity in patients with disseminated opportunistic infections associated with anti-interferon-γ autoantibodies N Angkasekwinai, Y Suputtamongkol, P Phoompoung, M Pithukpakorn, ... Plos one 14 (4), e0215581, 2019 | 41 | 2019 |
| Factors associated with acquired anti IFN-γ autoantibody in patients with nontuberculous mycobacterial infection P Phoompoung, N Ankasekwinai, M Pithukpakorn, S Foongladda, ... Plos one 12 (4), e0176342, 2017 | 38 | 2017 |
| Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene S Niyomnaitham, N Parinyanitikul, E Roothumnong, W Jinda, ... PeerJ 7, e6501, 2019 | 24 | 2019 |
| Six novel ATP7B mutations in Thai patients with Wilson disease B Panichareon, K Taweechue, W Thongnoppakhun, M Aksornworanart, ... European Journal of Medical Genetics 54 (2), 103-107, 2011 | 24 | 2011 |
| Precision medicine in Thailand V Shotelersuk, S Tongsima, M Pithukpakorn, J Eu‐ahsunthornwattana, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2019 | 21 | 2019 |
| Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome B Suktitipat, S Sathirareuangchai, E Roothumnong, W Thongnoppakhun, ... PLoS One 12 (7), e0180056, 2017 | 20 | 2017 |
| High frequency of KRAS codon 146 and FBXW7 mutations in Thai patients with stage II-III colon cancer K Korphaisarn, A Pongpaibul, E Roothumnong, K Pongsuktavorn, ... Asian Pacific journal of cancer prevention: APJCP 20 (8), 2319, 2019 | 18 | 2019 |
| Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes … P Lertwilaiwittaya, E Roothumnong, P Nakthong, P Dungort, ... Breast Cancer Research and Treatment 188, 237-248, 2021 | 17 | 2021 |
| Mycophenolic acid AUC in Thai kidney transplant recipients receiving low dose mycophenolate and its association with UGT2B7 polymorphisms M Pithukpakorn, T Tiwawanwong, Y Lalerd, A Assawamakin, ... Pharmacogenomics and personalized medicine, 379-385, 2014 | 17 | 2014 |
| Revised Ghent criteria is comparable to original diagnostic criteria for Marfan syndrome with increased ability to clinically diagnose related disorders W Penpattharakul, M Pithukpakorn J Med Assoc Thai 99 (1), 34-39, 2016 | 16 | 2016 |
| The KRAS-Mutant Consensus Molecular Subtype 3 Reveals an Immunosuppressive Tumor Microenvironment in Colorectal Cancer P Tanjak, A Chaiboonchoe, T Suwatthanarak, O Acharayothin, ... Cancers 15 (4), 1098, 2023 | 14 | 2023 |
| GeneReviews® M Pithukpakorn, JR Toro, RA Pagon, MP Adam, HH Ardinger, TD Bird, ... Seattle:, 2006 | 12 | 2006 |
| A 47, XXY patient and Xq21. 31 duplication with features of Prader–Willi syndrome: results of array-based comparative genomic hybridization P Pramyothin, M Pithukpakorn, RF Arakaki Endocrine 37, 379-382, 2010 | 11 | 2010 |
| Single-cell analysis of human diversity in circulating immune cells KH Kock, LM Tan, KY Han, Y Ando, D Jevapatarakul, A Chatterjee, ... bioRxiv, 2024.06. 30.601119, 2024 | 10 | 2024 |
| Derivation of an induced pluripotent stem cell line (MUSIi004-A) from dermal fibroblasts of a 48-year-old spinocerebellar ataxia type 3 patient A Ritthaphai, M Wattanapanitch, M Pithukpakorn, W Heepchantree, ... Stem cell research 30, 113-116, 2018 | 10 | 2018 |
| Novel mutation of the TINF2 gene in a patient with dyskeratosis congenita B Panichareon, T Seedapan, W Thongnoppakhun, C Limwongse, ... Case reports in dermatology 7 (2), 212-219, 2015 | 10 | 2015 |
