| 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 | 140 | 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 | 106 | 2019 |
| A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26. 32-3q28 P Yeetong, S Ausavarat, R Bhidayasiri, K Piravej, N Pasutharnchat, ... European Journal of Human Genetics 21 (2), 225-228, 2013 | 76 | 2013 |
| Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development MJ Konjikusic, P Yeetong, CW Boswell, C Lee, EC Roberson, R Ittiwut, ... PLoS Genetics 14 (11), e1007817, 2018 | 53 | 2018 |
| Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism T Sahakitrungruang, S Wacharasindhu, P Yeetong, T Snabboon, ... Fertility and sterility 90 (5), 2015. e11-2015. e15, 2008 | 39 | 2008 |
| Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. N Suratannon, P Yeetong, C Srichomthong, P Amarinthnukrowh, ... Pediatric Allergy & Immunology 27 (2), 2016 | 19 | 2016 |
| Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome P Yeetong, C Mahatumarat, P Siriwan, N Rojvachiranonda, ... American Journal of Medical Genetics Part A 149 (11), 2489-2492, 2009 | 19 | 2009 |
| Two novel CTNS mutations in cystinosis patients in Thailand P Yeetong, S Tongkobpetch, P Kingwatanakul, T Deekajorndech, ... Gene 499 (2), 323-325, 2012 | 18 | 2012 |
| Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1 P Yeetong, C Chunharas, M Pongpanich, MF Bennett, C Srichomthong, ... European Journal of Human Genetics 29 (2), 343-348, 2021 | 17 | 2021 |
| Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2 R Tammachote, N Kingsuwannapong, S Tongkobpetch, C Srichomthong, ... American journal of medical genetics Part A 158 (9), 2124-2130, 2012 | 15 | 2012 |
| Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy V Puangsricharern, P Yeetong, C Charumalai, K Suphapeetiporn, ... British Journal of Ophthalmology 98 (10), 1460-1462, 2014 | 14 | 2014 |
| A frameshift mutation in PEN-2 causes familial comedones syndrome W Panmontha, P Rerknimitr, P Yeetong, C Srichomthong, ... Dermatology 231 (1), 77-81, 2015 | 10 | 2015 |
| Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report P Charnwichai, P Yeetong, K Suphapeetiporn, V Supornsilchai, ... BMC Endocrine Disorders 16, 1-7, 2016 | 9 | 2016 |
| Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria P Yeetong, T Phewplung, W Kamolvisit, K Suphapeetiporn, V Shotelersuk Skeletal Radiology 47, 1577-1582, 2018 | 8 | 2018 |
| Delayed diagnosis in a house of correction: Smith–Magenis syndrome due to a de novo nonsense RAI1 variant P Yeetong, T Vilboux, C Ciccone, K Boulier, RE Schnur, WA Gahl, ... American Journal of Medical Genetics Part A 170 (9), 2383-2388, 2016 | 7 | 2016 |
| Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency N Tantirukdham, T Sahakitrungruang, R Chaisiwamongkol, ... The Journal of Clinical Endocrinology & Metabolism 107 (7), 1939-1947, 2022 | 5 | 2022 |
| MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nat Commun. 2016 U Lindert, WA Cabral, S Ausavarat, S Tongkobpetch, K Ludin, AM Barnes, ... | 5 | |
| Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders R Kaiyrzhanov, A Rad, SJ Lin, A Bertoli-Avella, WW Kallemeijn, A Godwin, ... Brain 147 (4), 1436-1456, 2024 | 4 | 2024 |
| Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8 P Yeetong, ME Dembélé, M Pongpanich, L Cissé, C Srichomthong, ... Movement Disorders 39 (1), 164-172, 2024 | 3 | 2024 |
| Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy P Yeetong, P Kulsirichawaroj, T Kumutpongpanich, C Srichomthong, ... Neuromuscular Disorders 33 (7), 551-556, 2023 | 3 | 2023 |
