| Year |
Citation |
Score |
| 2023 |
Lauhasurayotin S, Moonla C, Ittiwut R, Ittiwut C, Songthawee N, Komvilaisak P, Natesirinilkul R, Sirachainan N, Rojnuckarin P, Sosothikul D, Suphapeetiporn K. Genetic variations of type 2 and type 3 von Willebrand diseases in Thailand. Journal of Clinical Pathology. PMID 38053262 DOI: 10.1136/jcp-2023-209123 |
0.309 |
|
| 2022 |
Sinthuwiwat T, Buranapraditkun S, Kamolvisit W, Tongkobpetch S, Chetruengchai W, Srichomthong C, Assawapitaksakul A, Phokaew C, Kueanjinda P, Palaga T, Boonpiyathad T, Suphapeetiporn K, Hirankarn N, Shotelersuk V. A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases. Scientific Reports. 12: 15420. PMID 36104364 DOI: 10.1038/s41598-022-19334-x |
0.302 |
|
| 2022 |
Kuptanon C, Thamkunanon V, Srichomthong C, Theerapanon T, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta. Clinical Genetics. PMID 35703132 DOI: 10.1111/cge.14172 |
0.313 |
|
| 2020 |
Ittiwut R, Sengpanich K, Lauhasurayotin S, Ittiwut C, Shotelersuk V, Sosothikul D, Suphapeetiporn K. Clinical and molecular characteristics of Thai patients with related neutropaenia. Journal of Clinical Pathology. PMID 33318085 DOI: 10.1136/jclinpath-2020-207139 |
0.351 |
|
| 2020 |
Mekchay P, Ittiwut C, Ittiwut R, Akkawat B, Le Grand SM, Leela-Adisorn N, Muanpetch S, Khovidhunkit W, Sosothikul D, Shotelersuk V, Suphapeetiporn K, Rojnuckarin P. Whole exome sequencing for diagnosis of hereditary thrombocytopenia. Medicine. 99: e23275. PMID 33217855 DOI: 10.1097/MD.0000000000023275 |
0.359 |
|
| 2020 |
Ittiwut C, Poonmaksatit S, Boonsimma P, Desudchit T, Suphapeetiporn K, Ittiwut R, Shotelersuk V. Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability. Brain & Development. PMID 33190975 DOI: 10.1016/j.braindev.2020.10.016 |
0.399 |
|
| 2020 |
Rojnueangnit K, Maneechai P, Thaweekul P, Piriyanon P, Khositseth S, Ittiwut C, Chetruengchai W, Kamolvisit W, Theerapanon T, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency. European Journal of Medical Genetics. 63: 104086. PMID 33045405 DOI: 10.1016/j.ejmg.2020.104086 |
0.334 |
|
| 2020 |
Pattrakornkul N, Ittiwut C, Boonsimma P, Boonyapisit K, Khongkhatithum C, Sanmaneechai O, Suphapeetiporn K, Shotelersuk V. Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations. Neuromuscular Disorders : Nmd. PMID 32978031 DOI: 10.1016/J.Nmd.2020.08.362 |
0.428 |
|
| 2020 |
Choed-Amphai C, Phusua A, Ittiwut C, Charoenkwan P, Suphapeetiporn K, Shotelersuk V. Coinherited Hemoglobin H/Constant Spring Disease and Heterozygous Hemoglobin Tak Causing Severe Hemolytic Anemia in a Thai Boy. Journal of Pediatric Hematology/Oncology. PMID 32925409 DOI: 10.1097/Mph.0000000000001937 |
0.321 |
|
| 2020 |
Phokaew C, Sittiwangkul R, Suphapeetiporn K, Shotelersuk V. Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes. European Journal of Medical Genetics. 63: 103982. PMID 32534992 DOI: 10.1016/J.Ejmg.2020.103982 |
0.453 |
|
| 2020 |
Suratannon N, van Wijck RTA, Broer L, Xue L, van Meurs JBJ, Barendregt BH, van der Burg M, Dik WA, Chatchatee P, Langerak AW, Swagemakers SMA, Goos JAC, Mathijssen IMJ, Dalm VASH, Suphapeetiporn K, et al. Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency. Frontiers in Immunology. 11: 614. PMID 32373116 DOI: 10.3389/Fimmu.2020.00614 |
0.326 |
|
| 2020 |
Boonsimma P, Michael Gasser M, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Wagner M, Krenn M, Zimprich F, Abicht A, Biskup S, Roser T, Borggraefe I, Suphapeetiporn K, Shotelersuk V. Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases. Gene. 144709. PMID 32339621 DOI: 10.1016/J.Gene.2020.144709 |
0.523 |
|
| 2020 |
Boonsimma P, Suwannachote S, Phokaew C, Ittiwut C, Suphapeetiporn K, Shotelersuk V. A case of GABRA5-related developmental and epileptic encephalopathy with response to a combination of antiepileptic drugs and a GABAering agent. Brain & Development. PMID 32249079 DOI: 10.1016/J.Braindev.2020.03.005 |
0.328 |
|
| 2020 |
Shotelersuk V, Kamolvisit W, Rojvachiranonda N, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1. European Journal of Medical Genetics. 103924. PMID 32240825 DOI: 10.1016/J.Ejmg.2020.103924 |
0.498 |
|
| 2020 |
Hemwong N, Phokaew C, Srichomthong C, Tongkobpetch S, Srilanchakon K, Supornsilchai V, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in and . Journal of Advanced Research. 21: 121-127. PMID 32071780 DOI: 10.1016/J.Jare.2019.10.006 |
0.54 |
|
| 2019 |
Ittiwut C, Manuyakorn W, Tongkobpetch S, Benjaponpitak S, Fisher MR, Milner JD, Lyons JJ, Suphapeetiporn K, Shotelersuk V. Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions. Journal of Clinical Immunology. PMID 31707513 DOI: 10.1007/S10875-019-00693-6 |
0.405 |
|
| 2019 |
Okumura N, Puangsricharern V, Jindasak R, Koizumi N, Komori Y, Ryousuke H, Nakahara M, Nakano M, Adachi H, Tashiro K, Yoshii K, Chantaren P, Ittiwut R, Shotelersuk V, Suphapeetiporn K. Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy. Eye (London, England). PMID 31554942 DOI: 10.1038/S41433-019-0595-8 |
0.32 |
|
| 2019 |
Yeetong P, Pongpanich M, Srichomthong C, Assawapitaksakul A, Shotelersuk V, Tantirukdham N, Chunharas C, Suphapeetiporn K, Shotelersuk V. TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4. Brain : a Journal of Neurology. PMID 31539032 DOI: 10.1093/Brain/Awz267 |
0.353 |
|
| 2019 |
Dejkhamron P, Ittiwut C, TangNgam H, Sunkonkit K, Natesirinilkul R, Suphapeetiporn K, Shotelersuk V. A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome. Hormone Research in Paediatrics. 1-7. PMID 31362300 DOI: 10.1159/000501169 |
0.461 |
|
| 2019 |
Ratarat C, Ittiwut C, Natesirinilkul R, Sathitsamitpong L, Fanhchaksai K, Charoenkwan P, Suphapeetiporn K, Shotelersuk V. Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation. International Journal of Hematology. PMID 31347091 DOI: 10.1007/S12185-019-02713-Y |
0.452 |
|
| 2019 |
Tongkobpetch S, Rungsiwiwut R, Pruksananonda K, Suphapeetiporn K, Shotelersuk V. Generation of two human iPSC lines (MDCUi001-A and MDCUi001-B) from dermal fibroblasts of a Thai patient with X-linked osteogenesis imperfecta using integration-free Sendai virus. Stem Cell Research. 39: 101493. PMID 31326747 DOI: 10.1016/J.Scr.2019.101493 |
0.336 |
|
| 2019 |
Manaspon C, Thaweesapphithak S, Osathanon T, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. A novel de novo mutation substantiates KDF 1 as a gene causing ectodermal dysplasia British Journal of Dermatology. 181: 419-420. PMID 30977908 DOI: 10.1111/Bjd.18007 |
0.538 |
|
| 2019 |
Intarak N, Theerapanon T, Thaweesapphithak S, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders. Molecular Genetics and Genomics : Mgg. PMID 30887145 DOI: 10.1007/S00438-019-01547-X |
0.553 |
|
| 2019 |
Kuptanon C, Srichomthong C, Ittiwut C, Wechapinan T, Sri-Udomkajorn S, Iamopas O, Phokaew C, Suphapeetiporn K, Shotelersuk V. Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities. Gene. 696: 21-27. PMID 30771478 DOI: 10.1016/J.Gene.2019.01.049 |
0.489 |
|
| 2019 |
Suthiworachai C, Tammachote R, Srichomthong C, Ittiwut R, Suphapeetiporn K, Sahakitrungruang T, Shotelersuk V. Identification and Functional Analysis of Six Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita. Journal of the Endocrine Society. 3: 171-180. PMID 30620004 DOI: 10.1210/Js.2018-00270 |
0.475 |
|
| 2019 |
Srilanchakon K, Supornsilchai V, Suphapeetiporn K. A novel mutation in FAM111A gene in child with Kenny-Caffey syndrome type 2 presenting with short statue, medullary stenosis and hypoparathyroidism Bone Abstracts. DOI: 10.1530/Boneabs.7.P119 |
0.505 |
|
| 2019 |
Udomchaiprasertkul W, Kitidumrongsook P, Suphapeetiporn K, Shotelersuk V. A somatic PIK3CA p.H1047L mutation in a Thai patient with isolated macrodactyly: a case report Asian Biomedicine. 13: 33-36. DOI: 10.1515/Abm-2019-0037 |
0.435 |
|
| 2018 |
Konjikusic MJ, Yeetong P, Boswell CW, Lee C, Roberson EC, Ittiwut R, Suphapeetiporn K, Ciruna B, Gurnett CA, Wallingford JB, Shotelersuk V, Gray RS. Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development. Plos Genetics. 14: e1007817. PMID 30475797 DOI: 10.1371/Journal.Pgen.1007817 |
0.457 |
|
| 2018 |
Chongsrisawat V, Damrongphol P, Ittiwut C, Ittiwut R, Suphapeetiporn K, Shotelersuk V. The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency. Gene. PMID 30223008 DOI: 10.1016/J.Gene.2018.09.026 |
0.379 |
|
| 2018 |
Ittiwut C, Natesirinilkul R, Tongprasert F, Sathitsamitphong L, Choed-Amphai C, Fanhchaksai K, Charoenkwan P, Suphapeetiporn K, Shotelersuk V. Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia. British Journal of Haematology. PMID 30198572 DOI: 10.1111/Bjh.15559 |
0.445 |
|
| 2018 |
Kuptanon C, Srichomthong C, Sangsin A, Kovitvanitcha D, Suphapeetiporn K, Shotelersuk V. The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report. Bmc Medical Genetics. 19: 117. PMID 30012084 DOI: 10.1186/S12881-018-0639-0 |
0.463 |
|
| 2018 |
Yeetong P, Phewplung T, Kamolvisit W, Suphapeetiporn K, Shotelersuk V. Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria. Skeletal Radiology. PMID 29744569 DOI: 10.1007/S00256-018-2963-Z |
0.383 |
|
| 2018 |
Porntaveetus T, Abid MF, Theerapanon T, Srichomthong C, Ohazama A, Kawasaki K, Kawasaki M, Suphapeetiporn K, Sharpe PT, Shotelersuk V. Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of and in Human Tooth Germs. International Journal of Biological Sciences. 14: 381-389. PMID 29725259 DOI: 10.7150/Ijbs.23517 |
0.535 |
|
| 2018 |
Jongkhajornpong P, Lekhanont K, Pisuchpen P, Chantaren P, Puangsricharern V, Prabhasawat P, Suphapeetiporn K, Kinoshita S, Ueta M. Association between HLA-B*44:03-HLA-C*07:01 haplotype and cold medicine-related Stevens-Johnson syndrome with severe ocular complications in Thailand. The British Journal of Ophthalmology. PMID 29706602 DOI: 10.1136/Bjophthalmol-2017-311823 |
0.323 |
|
| 2018 |
Porntaveetus T, Nowwarote N, Osathanon T, Theerapanon T, Pavasant P, Boonprakong L, Sanon K, Srisawasdi S, Suphapeetiporn K, Shotelersuk V. Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation. Clinical Oral Investigations. PMID 29679229 DOI: 10.1007/S00784-018-2437-7 |
0.39 |
|
| 2018 |
Intarak N, Theerapanon T, Srijunbarl A, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia British Journal of Dermatology. 179: 758-760. PMID 29526031 DOI: 10.1111/Bjd.16541 |
0.519 |
|
| 2017 |
Intarak N, Theerapanon T, Ittiwut C, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. A novel PITX2 mutation in non-syndromic oro-dental anomalies. Oral Diseases. PMID 29121437 DOI: 10.1111/Odi.12804 |
0.434 |
|
| 2017 |
Porntaveetus T, Osathanon T, Nowwarote N, Pavasant P, Srichomthong C, Suphapeetiporn K, Shotelersuk V. Dental Properties, Ultrastructure, and Pulp Cells Associated With a Novel DSPP Mutation. Oral Diseases. PMID 29117466 DOI: 10.1111/Odi.12801 |
0.447 |
|
| 2017 |
Tongkobpetch S, Limpaphayom N, Sangsin A, Porntaveetus T, Suphapeetiporn K, Shotelersuk V. A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents. Genetics and Molecular Biology. 0. PMID 28956891 DOI: 10.1590/1678-4685-Gmb-2016-0033 |
0.524 |
|
| 2017 |
Chaiyasap P, Ittiwut C, Srichomthong C, Sangsin A, Suphapeetiporn K, Shotelersuk V. Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand. Bmc Medical Genetics. 18: 102. PMID 28915855 DOI: 10.1186/S12881-017-0464-X |
0.432 |
|
| 2017 |
Ittiwut R, Suchartlikitwong P, Kittikalayawong Y, Ittiwut C, Prasopsanti K, Sosothikul D, Shotelersuk V, Suphapeetiporn K. Novel Mutations in Thai Patients with Glanzmann Thrombasthenia. European Journal of Haematology. PMID 28888044 DOI: 10.1111/Ejh.12965 |
0.452 |
|
| 2017 |
Porntaveetus T, Srichomthong C, Suphapeetiporn K, Shotelersuk V. Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. American Journal of Medical Genetics. Part A. PMID 28763161 DOI: 10.1002/Ajmg.A.38370 |
0.472 |
|
| 2017 |
Yeetong P, Suphapeetiporn K, Shotelersuk V. Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene. World Journal of Pediatrics : Wjp. PMID 28484936 DOI: 10.1007/S12519-017-0037-2 |
0.532 |
|
| 2017 |
Porntaveetus T, Srichomthong C, Ohazama A, Suphapeetiporn K, Shotelersuk V. A novel GJA1 mutation in oculodentodigitaldysplasia with extensive loss of enamel. Oral Diseases. PMID 28258662 DOI: 10.1111/Odi.12663 |
0.478 |
|
| 2017 |
Sangsin A, Kuptanon C, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V. Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report. Bmc Medical Genetics. 18: 25. PMID 28257626 DOI: 10.1186/S12881-017-0384-9 |
0.435 |
|
| 2017 |
Chaiyasap P, Srichomthong C, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family Asian Biomedicine. 9: 211-215. DOI: 10.5372/1905-7415.0902.389 |
0.42 |
|
| 2016 |
Sangsin A, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V. Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report. Bmc Medical Genetics. 17: 96. PMID 27955642 DOI: 10.1186/S12881-016-0357-4 |
0.417 |
|
| 2016 |
Ittiwut C, Pratuangdejkul J, Supornsilchai V, Muensri S, Hiranras Y, Sahakitrungruang T, Watcharasindhu S, Suphapeetiporn K, Shotelersuk V. Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development. Journal of Pediatric Endocrinology & Metabolism : Jpem. PMID 27849622 DOI: 10.1515/Jpem-2016-0048 |
0.427 |
|
| 2016 |
Ittiwut C, Boonbuamas S, Srichomthong C, Ittiwut R, Suphapeetiporn K, Shotelersuk V. Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI. Genetic Testing and Molecular Biomarkers. PMID 27797586 DOI: 10.1089/Gtmb.2016.0221 |
0.528 |
|
| 2016 |
Panmontha W, Amarinthnukrowh P, Damrongphol P, Desudchit T, Suphapeetiporn K, Shotelersuk V. Novel mutations in the FUCA1 gene that cause fucosidosis. Genetics and Molecular Research. 15. PMID 27706744 DOI: 10.4238/Gmr.15038733 |
0.537 |
|
| 2016 |
Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Röthlisberger B, Rohrbach M, ... ... Suphapeetiporn K, et al. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nature Communications. 7: 11920. PMID 27380894 DOI: 10.1038/Ncomms11920 |
0.404 |
|
| 2016 |
Charnwichai P, Yeetong P, Suphapeetiporn K, Supornsilchai V, Sahakitrungruang T, Shotelersuk V. Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report. Bmc Endocrine Disorders. 16: 37. PMID 27316665 DOI: 10.1186/S12902-016-0118-6 |
0.37 |
|
| 2016 |
Ittiwut R, Ittiwut C, Siriwan P, Chichareon V, Suphapeetiporn K, Shotelersuk V. Variants of the CDH1 (E-Cadherin) Gene Associated with Oral Clefts in the Thai Population. Genetic Testing and Molecular Biomarkers. PMID 27227907 DOI: 10.1089/Gtmb.2015.0325 |
0.45 |
|
| 2016 |
Sangsin A, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V. Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita. Genetics and Molecular Research. 15: 15017624-15017624. PMID 26985960 DOI: 10.4238/Gmr.15017624 |
0.46 |
|
| 2016 |
Lindert U, Cabral W, Ausavarat S, Tongkobpetch S, Ludin K, Barnes A, Yeetong P, Weis M, Krabichler B, Makareeva E, Janecke A, Leikin S, Rothlisberger B, Rohrback M, Kennerknecht I, ... ... Suphapeetiporn K, et al. First X-linked form of osteogenesis imperfecta, caused by mutations in MBTPS2, demonstrates a fundamental role for regulated intramembrane proteolysis in normal bone formation Bone Abstracts. DOI: 10.1530/Boneabs.5.Lb9 |
0.397 |
|
| 2015 |
Porntaveetus T, Srichomthong C, Suphapeetiporn K, Shotelersuk V. A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing. Human Genome Variation. 2: 15033. PMID 27081542 DOI: 10.1038/Hgv.2015.33 |
0.51 |
|
| 2015 |
Veeravigrom M, Damrongphol P, Ittiwut R, Ittiwut C, Suphapeetiporn K, Shotelersuk V. Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report. Genetics and Molecular Research. 14: 14130-14135. PMID 26535729 DOI: 10.4238/2015.October.29.34 |
0.471 |
|
| 2015 |
Suratannon N, Yeetong P, Srichomthong C, Amarinthnukrowh P, Chatchatee P, Sosothikul D, van Hagen PM, van der Burg M, Wentink M, Driessen GJ, Suphapeetiporn K, Shotelersuk V. Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology. PMID 26359933 DOI: 10.1111/Pai.12485 |
0.422 |
|
| 2015 |
Zhang J, Zhang L, Zhang Y, Yang J, Guo M, Sun L, Pan HF, Hirankarn N, Ying D, Zeng S, Lee TL, Lau CS, Chan TM, Leung AM, Mok CC, ... ... Suphapeetiporn K, et al. Gene-based meta-analysis of GWAS data identifies independent SNPs in ANXA6 as associated with SLE in Asian populations. Arthritis & Rheumatology (Hoboken, N.J.). PMID 26202167 DOI: 10.1002/Art.39275 |
0.34 |
|
| 2015 |
Panmontha W, Rerknimitr P, Yeetong P, Srichomthong C, Suphapeetiporn K, Shotelersuk V. A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome. Dermatology (Basel, Switzerland). 231: 77-81. PMID 26044244 DOI: 10.1159/000382122 |
0.403 |
|
| 2015 |
Ingrungruanglert P, Amarinthnukrowh P, Rungsiwiwut R, Maneesri-le Grand S, Sosothikul D, Suphapeetiporn K, Israsena N, Shotelersuk V. Wiskott-Aldrich syndrome iPS cells produce megakaryocytes with defects in cytoskeletal rearrangement and proplatelet formation. Thrombosis and Haemostasis. 113: 792-805. PMID 25518736 DOI: 10.1160/Th14-06-0503 |
0.416 |
|
| 2015 |
Zhang Y, Zhang J, Yang J, Wang Y, Zhang L, Zuo X, Sun L, Pan HF, Hirankarn N, Wang T, Chen R, Ying D, Zeng S, Shen JJ, Lee TL, ... ... Suphapeetiporn K, et al. Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus. Human Molecular Genetics. 24: 274-84. PMID 25149475 DOI: 10.1093/Hmg/Ddu429 |
0.31 |
|
| 2015 |
Suratannon N, Yeetong P, Srichomthon C, Chatchatee P, Hagen Mv, Driessen GJ, Burg Mvd, Sosothikul D, Ngamphaiboon J, Suphapeetiporn K, Shotelersuk V. Improvement of Recurrent Infections after IVIG Supplementation in a Patient with Leukocyte Adhesion Deficiency III with a Novel Missense Mutation in FERMT3 The Journal of Allergy and Clinical Immunology. 135. DOI: 10.1016/J.Jaci.2014.12.1532 |
0.411 |
|
| 2014 |
Rattanasopha S, Tongkobpetch S, Srichomthong C, Kitidumrongsook P, Suphapeetiporn K, Shotelersuk V. Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I. Journal of Medical Genetics. 51: 817-23. PMID 25332435 DOI: 10.1136/Jmedgenet-2014-102576 |
0.31 |
|
| 2014 |
Puangsricharern V, Yeetong P, Charumalai C, Suphapeetiporn K, Shotelersuk V. Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy. The British Journal of Ophthalmology. 98: 1460-2. PMID 25138764 DOI: 10.1136/Bjophthalmol-2014-305584 |
0.504 |
|
| 2014 |
Norbnop P, Srichomthong C, Suphapeetiporn K, Shotelersuk V. ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers. Journal of Human Genetics. 59: 467-70. PMID 24965254 DOI: 10.1038/Jhg.2014.50 |
0.495 |
|
| 2014 |
Chaiyasap P, Kulawonganunchai S, Srichomthong C, Tongsima S, Suphapeetiporn K, Shotelersuk V. Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy. Plos One. 9: e100191. PMID 24950249 DOI: 10.1371/Journal.Pone.0100191 |
0.408 |
|
| 2014 |
Sahakitrungruang T, Srichomthong C, Pornkunwilai S, Amornfa J, Shuangshoti S, Kulawonganunchai S, Suphapeetiporn K, Shotelersuk V. Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease. The Journal of Clinical Endocrinology and Metabolism. 99: E1487-92. PMID 24823459 DOI: 10.1210/Jc.2014-1016 |
0.438 |
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| 2014 |
Rattanachartnarong N, Tongkobpetch S, Chatchatee P, Daengsuwan T, Ittiwut C, Suphapeetiporn K, Shotelersuk V. In vitro correction of a novel splicing alteration in the BTK gene by using antisense morpholino oligonucleotides. Archivum Immunologiae Et Therapiae Experimentalis. 62: 431-6. PMID 24658450 DOI: 10.1007/S00005-014-0283-0 |
0.341 |
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| 2014 |
Zhang J, Zhang Y, Yang J, Zhang L, Sun L, Pan HF, Hirankarn N, Ying D, Zeng S, Lee TL, Lau CS, Chan TM, Leung AM, Mok CC, Wong SN, ... ... Suphapeetiporn K, et al. Three SNPs in chromosome 11q23.3 are independently associated with systemic lupus erythematosus in Asians. Human Molecular Genetics. 23: 524-33. PMID 24001599 DOI: 10.1093/Hmg/Ddt424 |
0.306 |
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| 2013 |
Srichomthong C, Ittiwut R, Siriwan P, Suphapeetiporn K, Shotelersuk V. FOXE1 mutations in Thai patients with oral clefts. Genetics Research. 95: 133-7. PMID 24252547 DOI: 10.1017/S0016672313000177 |
0.357 |
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| 2013 |
Utokpat P, Panmontha W, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis. Pediatrics International : Official Journal of the Japan Pediatric Society. 55: 651-5. PMID 24134756 DOI: 10.1111/Ped.12091 |
0.534 |
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| 2013 |
Leoyklang P, Suphapeetiporn K, Srichomthong C, Tongkobpetch S, Fietze S, Dorward H, Cullinane AR, Gahl WA, Huizing M, Shotelersuk V. Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene. Human Genetics. 132: 1383-93. PMID 23925499 DOI: 10.1007/S00439-013-1345-9 |
0.496 |
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| 2013 |
Chokdeemeeboon C, Ammarinthnukrowh P, Tongkobpetch S, Srichomtong C, Deekajorndech T, Rianthavorn P, Kingwattanakul P, Avihingsanon Y, Wright HL, Akkahat P, Hoven VP, Mekboonsonglarp W, Edwards SW, Hirankarn N, Suphapeetiporn K, et al. DcR3 mutations in patients with juvenile-onset systemic lupus erythematosus lead to enhanced lymphocyte proliferation. The Journal of Rheumatology. 40: 1316-26. PMID 23729807 DOI: 10.3899/Jrheum.121285 |
0.419 |
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| 2013 |
Tammachote R, Tongkobpetch S, Srichomthong C, Phipatthanananti K, Pungkanon S, Wattanasirichaigoon D, Suphapeetiporn K, Shotelersuk V. A common and two novel GBA mutations in Thai patients with Gaucher disease. Journal of Human Genetics. 58: 594-9. PMID 23719189 DOI: 10.1038/Jhg.2013.60 |
0.509 |
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| 2013 |
Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. The Journal of Craniofacial Surgery. 24: 150-2. PMID 23348274 DOI: 10.1097/Scs.0B013E3182646454 |
0.538 |
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| 2013 |
Yang W, Tang H, Zhang Y, Tang X, Zhang J, Sun L, Yang J, Cui Y, Zhang L, Hirankarn N, Cheng H, Pan HF, Gao J, Lee TL, Sheng Y, ... ... Suphapeetiporn K, et al. Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. American Journal of Human Genetics. 92: 41-51. PMID 23273568 DOI: 10.1016/J.Ajhg.2012.11.018 |
0.327 |
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| 2013 |
Amarinthnukrowh P, Ittiporn S, Tongkobpetch S, Chatchatee P, Sosothikul D, Shotelersuk V, Suphapeetiporn K. Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome. Scandinavian Journal of Immunology. 77: 69-74. PMID 23033889 DOI: 10.1111/Sji.12004 |
0.538 |
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| 2013 |
Siripunthana S, Sahakitrungruang T, Washarasindhu S, Suphapeetiporn K, Supornsilchai V. A discordant of blood glucose analysed by Glucometer and the Central lab method in an infant with Galactosemia International Journal of Pediatric Endocrinology. 2013: 178. DOI: 10.1186/1687-9856-2013-S1-P178 |
0.324 |
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| 2012 |
Tammachote R, Kingsuwannapong N, Tongkobpetch S, Srichomthong C, Yeetong P, Kingwatanakul P, Monico CG, Suphapeetiporn K, Shotelersuk V. Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2. American Journal of Medical Genetics. Part A. 158: 2124-30. PMID 22821680 DOI: 10.1002/Ajmg.A.35495 |
0.434 |
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| 2012 |
Rattanasopha S, Tongkobpetch S, Srichomthong C, Siriwan P, Suphapeetiporn K, Shotelersuk V. PDGFRa mutations in humans with isolated cleft palate. European Journal of Human Genetics : Ejhg. 20: 1058-62. PMID 22473090 DOI: 10.1038/Ejhg.2012.55 |
0.324 |
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| 2012 |
Yeetong P, Tongkobpetch S, Kingwatanakul P, Deekajorndech T, Bernardini IM, Suphapeetiporn K, Gahl WA, Shotelersuk V. Two novel CTNS mutations in cystinosis patients in Thailand. Gene. 499: 323-5. PMID 22450360 DOI: 10.1016/J.Gene.2012.03.047 |
0.532 |
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| 2012 |
Pongjantarasatian S, Wacharasindhu S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Pathogenic mechanism of mutations in the thyroid hormone receptor β gene. Journal of Endocrinological Investigation. 35: 557-61. PMID 21795843 DOI: 10.3275/7876 |
0.361 |
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| 2011 |
Ausavarat S, Tongkobpetch S, Praphanphoj V, Mahatumarat C, Rojvachiranonda N, Snabboon T, Markello TC, Gahl WA, Suphapeetiporn K, Shotelersuk V. PTPRF is disrupted in a patient with syndromic amastia. Bmc Medical Genetics. 12: 46. PMID 21453473 DOI: 10.1186/1471-2350-12-46 |
0.338 |
|
| 2011 |
Supornsilchai V, Hiranras Y, Wacharasindhu S, Mahayosnond A, Suphapeetiporn K, Shotelersuk V. Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene. Endocrine. 40: 62-6. PMID 21424181 DOI: 10.1007/S12020-011-9450-9 |
0.485 |
|
| 2011 |
Suphapeetiporn K, Srichomthong C, Shotelersuk V. SETBP1 mutations in two Thai patients with Schinzel–Giedion syndrome Clinical Genetics. 79: 391-393. PMID 21371013 DOI: 10.1111/J.1399-0004.2010.01552.X |
0.485 |
|
| 2011 |
Prommajan K, Ausavarat S, Srichomthong C, Puangsricharern V, Suphapeetiporn K, Shotelersuk V. A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I. Molecular Vision. 17: 456-60. PMID 21364962 |
0.383 |
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| 2011 |
Yang J, Yang W, Hirankarn N, Ye DQ, Zhang Y, Pan HF, Mok CC, Chan TM, Wong RW, Mok MY, Lee KW, Wong SN, Leung AM, Li XP, Avihingsanon Y, ... ... Suphapeetiporn K, et al. ELF1 is associated with systemic lupus erythematosus in Asian populations. Human Molecular Genetics. 20: 601-7. PMID 21044949 DOI: 10.1093/Hmg/Ddq474 |
0.371 |
|
| 2010 |
Amarinthnukrowh P, Tongkobpetch S, Kongpatanayothin A, Suphapeetiporn K, Shotelersuk V. p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease. Genetic Testing and Molecular Biomarkers. 14: 835-7. PMID 21039225 DOI: 10.1089/Gtmb.2010.0038 |
0.45 |
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| 2010 |
Sahakitrungruang T, Tee MK, Rattanachartnarong N, Shotelersuk V, Suphapeetiporn K, Miller WL. Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families. Hormone Research in Pã¦Diatrics. 73: 349-54. PMID 20389105 DOI: 10.1159/000308167 |
0.443 |
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| 2010 |
Amornvipas P, Suphapeetiporn K, Shotelersuk V, Chongsrisawat V, Desudchit T, Poovorawan Y. Crigler-Najjar syndrome: a case report Asian Biomedicine. 3: 165-170. DOI: 10.5372/Abm.V3I2.441 |
0.516 |
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| 2010 |
Suphapeetiporn K, Tongkobpetch S, Kukulprasong A, Shotelersuk V. Reversible prostaglandin-induced cortical hyperostosis in an infant without 3040C→T mutation in COL1A1 Asian Biomedicine. 2. DOI: 10.5372/Abm.V2I1.159 |
0.469 |
|
| 2009 |
Tammachote R, Janklat S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Holocarboxylase synthetase deficiency: novel clinical and molecular findings. Clinical Genetics. 78: 88-93. PMID 20095979 DOI: 10.1111/J.1399-0004.2009.01357.X |
0.494 |
|
| 2009 |
Ausavarat S, Leoyklang P, Vejchapipat P, Chongsrisawat V, Suphapeetiporn K, Shotelersuk V. Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome. World Journal of Gastroenterology. 15: 5364-7. PMID 19908348 DOI: 10.3748/Wjg.15.5364 |
0.558 |
|
| 2009 |
Yeetong P, Mahatumarat C, Siriwan P, Rojvachiranonda N, Suphapeetiporn K, Shotelersuk V. Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome. American Journal of Medical Genetics. Part A. 149: 2489-92. PMID 19842205 DOI: 10.1002/Ajmg.A.33048 |
0.544 |
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| 2009 |
Tammachote R, Tongkobpetch S, Desudchit T, Suphapeetiporn K, Shotelersuk V. Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease Journal of Inherited Metabolic Disease. 32: 33-36. PMID 19240989 DOI: 10.1007/S10545-009-1022-2 |
0.507 |
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| 2009 |
Supornsilchai V, Sahakitrungruang T, Wongjitrat N, Wacharasindhu S, Suphapeetiporn K, Shotelersuk V. Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. Clinical Endocrinology. 70: 623-8. PMID 18681856 DOI: 10.1111/J.1365-2265.2008.03367.X |
0.499 |
|
| 2009 |
Voraphani N, Chatchatee P, Ngamphaiboon J, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Clinical and molecular characteristics of Thai families with autosomal recessive chronic granulomatous disease. Asian Biomedicine. 3: 603-609. DOI: 10.5372/Abm.V3I6.265 |
0.483 |
|
| 2008 |
Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Two novel EBP mutations in Conradi-Hünermann-Happle syndrome. European Journal of Dermatology : Ejd. 18: 391-3. PMID 18573709 DOI: 10.1684/Ejd.2008.0433 |
0.556 |
|
| 2008 |
Sahakitrungruang T, Wacharasindhu S, Sinthuwiwat T, Supornsilchai V, Suphapeetiporn K, Shotelersuk V. Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus. Endocrine. 33: 210-4. PMID 18473191 DOI: 10.1007/S12020-008-9074-X |
0.523 |
|
| 2008 |
Tongkobpetch S, Suphapeetiporn K, Siriwan P, Shotelersuk V. Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate International Journal of Oral and Maxillofacial Surgery. 37: 550-553. PMID 18356023 DOI: 10.1016/J.Ijom.2008.01.024 |
0.459 |
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| 2008 |
Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. Clinical Genetics. 73: 373-379. PMID 18325042 DOI: 10.1111/J.1399-0004.2008.00975.X |
0.539 |
|
| 2008 |
Sahakitrungruang T, Wacharasindhu S, Yeetong P, Snabboon T, Suphapeetiporn K, Shotelersuk V. Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. Fertility and Sterility. 90: 2015.e11-5. PMID 18314109 DOI: 10.1016/J.Fertnstert.2008.01.019 |
0.497 |
|
| 2007 |
Vilaiphan P, Chatchatee P, Ngamphaiboon J, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Nonsense mutations of the CYBB gene in two Thai families with X-linked chronic granulomatous disease. Asian Pacific Journal of Allergy and Immunology / Launched by the Allergy and Immunology Society of Thailand. 25: 243-7. PMID 18402298 |
0.42 |
|
| 2007 |
Suphapeetiporn K, Tongkobpetch S, Siriwan P, Shotelersuk V. TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. Clinical Genetics. 72: 478-483. PMID 17868388 DOI: 10.1111/J.1399-0004.2007.00891.X |
0.526 |
|
| 2007 |
Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Human Mutation. 28: 732-8. PMID 17377962 DOI: 10.1002/Humu.20515 |
0.528 |
|
| 2007 |
Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clinical Genetics. 71: 280-284. PMID 17309652 DOI: 10.1111/J.1399-0004.2007.00768.X |
0.441 |
|
| 2006 |
Suphapeetiporn K, Kongkam P, Tantivatana J, Sinthuwiwat T, Tongkobpetch S, Shotelersuk V. PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping. Japanese Journal of Clinical Oncology. 36: 814-21. PMID 17043057 DOI: 10.1093/Jjco/Hyl107 |
0.529 |
|
| 2004 |
Busygina V, Suphapeetiporn K, Marek LR, Stowers RS, Xu T, Bale AE. Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1 Human Molecular Genetics. 13: 2399-2408. PMID 15333582 DOI: 10.1093/Hmg/Ddh271 |
0.663 |
|
| 2002 |
Suphapeetiporn K, Greally JM, Walpita D, Ashley T, Bale AE. MEN1 tumor-suppressor protein localizes to telomeres during meiosis. Genes, Chromosomes & Cancer. 35: 81-5. PMID 12203793 DOI: 10.1002/Gcc.10113 |
0.625 |
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