Genomics

Center of Excellence for Medical Genomics

Publications

    1. Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser-Kupfer MI, White JG, King RA, Gahl WA. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Am J Hum Genet. 1997 Nov;61(5):1088-9

    2. Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med. 1998 Apr 30;338(18):1258-64

    3. Hazelwood S, Bernardini I, Shotelersuk V, Tangerman A, Guo J, Mudd H, Gahl WA. Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III. Am J Med Genet. 1998 Feb 3;75(4):395-400

    4. Shotelersuk V, Gahl WA. Hermansky-Pudlak syndrome: models for intracellular vesicle formation. Mol Genet Metab. 1998 Oct;65(2):85-96

    5. Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer MI, Kuehl E, Bernardini I, Gahl WA. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Mol Genet Metab. 1998 Jun;64(2):99-107

    6. Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA. CTNS mutations in an American-based population of cystinosis patients. Am J Hum Genet. 1998 Nov;63(5):1352-62

    7. Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Mol Genet Metab. 1999 Feb;66(2):111-6

    8. Anikster Y, Shotelersuk V, Gahl WA. CTNS mutations in patients with cystinosis. Hum Mutat. 1999;14(6):454-8

    9. Dell’Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell. 1999 Jan;3(1):11-21

    10. Shotelersuk V, Tifft CJ, Vacha S, Peters KF, Biesecker LG. Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls. Am J Med Genet. 1999 Sep 17;86(3):269-73

    11. Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA. Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Pediatr Res. 2000 Jan;47(1):17-23

    12. Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. 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. Chest. 2000 Jan;117(1):129-36

    13. Shotelersuk V, Dell’Angelica EC, Hartnell L, Bonifacino JS, Gahl WA. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med. 2000 Apr 1;108(5):423-7

    14. Shotelersuk V, Srivuthana S, Wacharasindhu S, Dhamcharee V, Jaruratanasirikul S, Pangkanon S, Kaewpaluek V, Aroonparkmongkol S. Establishing gas chromatography-mass spectrometry to diagnose organic acidemias in Thailand. Southeast Asian J Trop Med Public Health. 2000 Sep;31(3):566-70

    15. Shotelersuk V, Tosukhowong P, Chotivitayatarakorn P, Pongpunlert W. A Thai boy with hereditary enzymopenic methemoglobinemia type II. J Med Assoc Thai. 2000 Nov;83(11):1380-6

    16. Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED. 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-causing deletion. Genome Res. 2000 Feb;10(2):165-73

    17. Wacharasindhu S, Srivuthana S, Aroonparkmongkol S, Shotelersuk V. A cost-benefit of gnRH stimulation test in diagnosis of central precocious puberty (CPP). J Med Assoc Thai. 2000 Sep;83(9):1105-11

    18. Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA. CTNS mutations in African American patients with cystinosis. Mol Genet Metab. 2001 Nov;74(3):332-7

    19. Shotelersuk V, Ittiwut C, Shotelersuk K, Triratanachat S, Poovorawan Y, Mutirangura A. Fibroblast growth factor receptor 3 S249C mutation in virus associated squamous cell carcinomas. Oncol Rep. 2001 Nov-Dec;8(6):1301-4

    20. Shotelersuk V, Ittiwut C, Srivuthana S, Wacharasindhu S, Aroonparkmongkol S, Mutirangura A, Poovorawan Y. Clinical and molecular characteristics of Thai patients with achondroplasia. Southeast Asian J Trop Med Public Health. 2001 Jun;32(2):429-33

    21. Shotelersuk V, Punyavoravud V, Phudhichareonrat S, Kukulprasong A. An Asian girl with a ‘milder’ form of the Hydrolethalus syndrome. Clin Dysmorphol. 2001 Jan;10(1):51-5

    22. Shotelersuk V, Srivuthana S, Ittiwut C, Theamboonlers A, Mahatumarat C, Poovorawan Y. A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene. Southeast Asian J Trop Med Public Health. 2001 Jun;32(2):425-8

    23. Shotelersuk V, Ittiwut C, Srivuthana S, Mahatumarat C, Lerdlum S, Wacharasindhu S. Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2. Am J Med Genet. 2002 Nov 15;113(1):4-8

    24. Shotelersuk V, Punyashthiti R. A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia. Int J Mol Med. 2002 Jan;9(1):81-4

    25. Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S. Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation. Am J Med Genet. 2002 Jul 15;110(4):384-90

    26. Shotelersuk V, Shuangshoti S, Chotivitayatarakorn P, Chouwsrikul W, Wattanasirmkit V, Maneesri S, Nuayboonma P, Viratchai C, Suwangool P. Clinical, pathological, and electron microscopic findings in two Thai children with Pompe disease. J Med Assoc Thai. 2002 Jun;85 Suppl 1:S271-9

    27. Tangnararatchakit K, Ariyaprakai W, Tapaneya-Olarn W, Shotelersuk V, Petchthong T. Cystinuria: cause of recurrent renal stones in a 4-year-old girl. J Med Assoc Thai. 2002 Nov;85 Suppl 4:S1281-6

    28. Champattanachai V, Ketudat Cairns JR, Shotelersuk V, Keeratichamroen S, Sawangareetrakul P, Srisomsap C, Kaewpaluek V, Svasti J. Novel mutations in a Thai patient with methylmalonic acidemia. Mol Genet Metab. 2003 Aug;79(4):300-2

    29. Chatchatee P, Srichomthong C, Chewatavorn A, Shotelersuk V. A novel termination codon mutation of the WAS gene in a Thai family with Wiskott-Aldrich syndrome. Int J Mol Med. 2003 Dec;12(6):939-41

    30. Shotelersuk V. Molecular diagnosis of dysmorphic syndromes and inherited metabolic disorders in Thailand. J Med Assoc Thai. 2003 Jun;86 Suppl 2:S129-34

    31. Shotelersuk V, Desudchit T, Suwanwela N. Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy. Am J Med Genet A. 2003 Jan 15;116A(2):164-9

    32. Shotelersuk V, Ittiwut C, Siriwan P, Angspatt A. Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip. J Med Genet. 2003 May;40(5):e64

    33. Shotelersuk V, Mahatumarat C, Ittiwut C, Rojvachiranonda N, Srivuthana S, Wacharasindhu S, Tongkobpetch S. FGFR2 mutations among Thai children with Crouzon and Apert syndromes. J Craniofac Surg. 2003 Jan;14(1):101-4; discussion 5-7

    34. Shotelersuk V, Srichomthong C, Yoshiura K, Niikawa N. A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome. Int J Mol Med. 2003 Apr;11(4):505-7

    35. Sunthornyothin S, Sinthuwiwat T, Shotelersuk V. A RET C634R mutation in a Thai female with multiple endocrine neoplasia type 2A. J Med Assoc Thai. 2003 Jun;86 Suppl 2:S472-6

    36. Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. Am J Med Genet A. 2004 Jul 15;128A(2):170-2

    37. Phupong V, Srichomthong C, Shotelersuk V. Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2. Southeast Asian J Trop Med Public Health. 2004 Dec;35(4):977-9

    38. Shotelersuk V, Desudchit T, Tongkobpetch S. ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs. Int J Mol Med. 2004 Oct;14(4):683-9

    39. Wacharasindhu S, Shotelersuk V, Srivuthana S, Yodvisitsak W, Suwanwela N, Savage MO. Pallister-Hall syndrome with hypoparathyroidism. J Pediatr Endocrinol Metab. 2004 May;17(5):801-3

    40. Phupong V, Shuangshoti S, Sutthiruangwong P, Maneesri S, Nuayboonma P, Shotelersuk V. Prenatal diagnosis of Pompe disease by electron microscopy. Arch Gynecol Obstet. 2005 Mar;271(3):259-61

    41. Shotelersuk V, Janklat S, Siriwan P, Tongkobpetch S. De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome. Clin Exp Dermatol. 2005 May;30(3):282-5

    42. Shotelersuk V, Tongkobpetch S. Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hunermann-Happle syndrome. Clin Exp Dermatol. 2005 Jul;30(4):419-21

    43. Snabboon T, Plengpanich W, Shotelersuk V, Sirisalipoch S, Nonthasoot B, Sirichindakul B, Wisedopas N, Suwanwalaikorn S. A germline mutation in a Thai family with familial multiple endocrine neoplasia type 1. J Med Assoc Thai. 2005 Feb;88(2):191-5

    44. Snabboon T, Plengpanich W, Siriwong S, Wisedopas N, Suwanwalaikorn S, Khovidhunkit W, Shotelersuk V. A novel germline mutation, 1793delG, of the MEN1 gene underlying multiple endocrine neoplasia type 1. Jpn J Clin Oncol. 2005 May;35(5):280-2

    45. Srichomthong C, Siriwan P, Shotelersuk V. Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population. J Med Genet. 2005 Jul;42(7):e46

    46. Katavetin P, Wacharasindhu S, Shotelersuk V. A girl with a novel splice site mutation in VDR supports the role of a ligand-independent VDR function on hair cycling. Horm Res. 2006;66(6):273-6

    47. Leoyklang P, Siriwan P, Shotelersuk V. A mutation of the p63 gene in non-syndromic cleft lip. J Med Genet. 2006 Jun;43(6):e28

    48. Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou JW, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura M, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients. Am J Med Genet A. 2006 Feb 1;140(3):291-3

    49. Phupong V, Shotelersuk V. Prenatal exclusion of Pompe disease by electron microscopy. Southeast Asian J Trop Med Public Health. 2006 Sep;37(5):1021-4

    50. Shotelersuk V, Siriwan P, Ausavarat S. A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome. Cleft Palate Craniofac J. 2006 Mar;43(2):152-4

    51. 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. Jpn J Clin Oncol. 2006 Dec;36(12):814-21

    52. Tansatit M, Kongruttanachok N, Kongnak W, Arunpan S, Maneeshote P, Buasorn V, Praphanphoj V, Shotelersuk V. Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 –> 9pter and deletion of 9q34.3. Am J Med Genet A. 2006 Sep 15;140(18):1981-7

    53. Tongkobpetch S, Siriwan P, Shotelersuk V. MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. J Hum Genet. 2006;51(8):671-6

    54. Shotelersuk V, Jaruratanasirikul S, Sinthuwiwat T, Janjindamai W. A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia. Genet Mol Biol. 2006;29(4): 617-20

    55. Phupong V, Praphanphoj V, Shotelersuk V. Prenatal exclusion of subtelomeric deletion 1p by fluorescent in situ hybridization. Arch Gynecol Obstet. 2007 Apr;275(4):237-40

    56. Snabboon T, Plengpanich W, Saengpanich S, Sirisalipoch S, Keelawat S, Sunthornyothin S, Khovidhunkit W, Suwanwalaikorn S, Sridama V, Shotelersuk V. Two common and three novel PDS mutations in Thai patients with Pendred syndrome. J Endocrinol Invest. 2007 Dec;30(11):907-13

    57. Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clin Genet. 2007 Mar;71(3):280-4

    58. Suphapeetiporn K, Tongkobpetch S, Siriwan P, Shotelersuk V. TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. Clin Genet. 2007 Nov;72(5):478-83

    59. 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 Pac J Allergy Immunol. 2007 Dec;25(4):243-7

    60. Vilaiphan P, Suphapeetiporn K, Phupong V, Shotelersuk V. An exceptionally low percentage of Thai expectant mothers and medical personnel with folic acid knowledge and peri-conceptional consumption urges an urgent education program and/or food fortification. Int J Food Sci Nutr. 2007 Jun;58(4):297-303

    61. 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. Hum Mutat. 2007 Jul;28(7):732-8

    62. Chusakul S, Phannaso C, Tongkobpetch S, Aeumjaturapat S, Poovorawan Y, Suphapeetiporn K, Shotelersuk V. Expression of mammaglobins A and B in nasal polyps is similar in patients with and without allergic rhinitis. Am J Rhinol. 2008 Mar-Apr;22(2):135-8

    63. Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. Clin Genet. 2008 Apr;73(4):373-9

    64. Locharernkul C, Loplumlert J, Limotai C, Korkij W, Desudchit T, Tongkobpetch S, Kangwanshiratada O, Hirankarn N, Suphapeetiporn K, Shotelersuk V. Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B*1502 allele in Thai population. Epilepsia. 2008 Dec;49(12):2087-91

    65. Rerknimitr R, Shotelersuk V, Buranasupkajorn P, Plengpanich W, Snabboon T. A novel SPINK1 gene mutation, c.206C>T, in a Thai patient with chronic alcoholic pancreatitis. JOP. 2008;9(1):33-6

    66. 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. 2008 Apr;33(2):210-4

    67. 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. Fertil Steril. 2008 Nov;90(5):2015 e11-5

    68. Snabboon T, Plengpanich W, Buranasupkajorn P, Khwanjaipanich R, Vasinanukorn P, Suwanwalaikorn S, Khovidhunkit W, Shotelersuk V. A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency. Horm Res. 2008;69(1):60-4

    69. Suphapeetiporn K, Mahatumarat C, Rojvachiranonda N, Taecholarn C, Siriwan P, Srivuthana S, Shotelersuk V. Risk factors associated with the occurrence of frontoethmoidal encephalomeningocele. Eur J Paediatr Neurol. 2008 Mar;12(2):102-7

    70. 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. Int J Oral Maxillofac Surg. 2008 Jun;37(6):550-3

    71. Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Two novel EBP mutations in Conradi-Hunermann-Happle syndrome. Eur J Dermatol. 2008 Jul-Aug;18(4):391-3

    72. Suphapeetiporn K, Tongkobpetch S, Kukulprasong A, Shotelersuk, V. Reversible prostaglandin-induced cortical hyperostosis in an infant without 3040C→T mutation in COL1A1. Asian Biomedicine. 2008;2(1):67-70

    73. 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. J Inherit Metab Dis. 2009 Feb 24

    74. Wattanachanya L, Bunworasate U, Plengpanich W, Houngngam N, Buranasupkajorn P, Sunthornyothin S, Shotelersuk V, Snabboon T. Bilateral pheochromocytoma during the postpartum period. Arch Gynecol Obstet. 2009 Dec;280(6):1055-8

    75. 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. Am J Med Genet A. 2009 Nov;149A(11):2489-92

    76. 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 J Gastroenterol. 2009 Nov 14;15(42):5364-7

    77. 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. 2009;3(6):603-9

    78. 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. Clin Endocrinol (Oxf). 2009 Apr;70(4):623-8

    79. Snabboon T, Plengpanich W, Houngngam N, Buranasupkajorn P, Plengvidhya N, Sereepapong W, Sunthornyothin S, Shotelersuk V. Concurrent bilateral pheochromocytoma and thoracic paraganglioma during pregnancy. Endocrine. 2010 Apr;37(2):261-4

    80. Tammachote R, Janklat S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Holocarboxylase synthetase deficiency: novel clinical and molecular findings. Clin Genet. 2010 Jul;78(1):88-93

    81. Amarinthnukrowh P, Tongkobpetch S, Kongpatanayothin A, Suphapeetiporn K, Shotelersuk V. p.D645E of acid alpha-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease. Genet Test Mol Biomarkers. 2010 Dec;14(6):835-7

    82. Locharernkul C, Shotelersuk V, Hirankarn N. HLA-B* 1502 screening: time to clinical practice. Epilepsia. 2010 May;51(5):936-8

    83. 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. Horm Res Paediatr. 2010;73(5):349-54

    84. 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, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Shotelersuk V, Baum L, Kwan P, Lee TL, Ho MH, Lee PP, Wong WH, Zeng S, Zhang J, Wong CM, Ng IO, Garcia-Barcelo MM, Cherny SS, Tam PK, Sham PC, Lau CS, Lau YL. ELF1 is associated with systemic lupus erythematosus in Asian populations. Hum Mol Genet. 2011 Feb 1;20(3):601-7

    85. 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 Med Genet. 2011;12:46

    86. Pongjantarasatian S, Wacharasindhu S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Pathogenic mechanism of mutations in the thyroid hormone receptor beta gene. J Endocrinol Invest. 2011 Jul 27

    87. Locharernkul C, Shotelersuk V, Hirankarn N. Pharmacogenetic screening of carbamazepine-induced severe cutaneous allergic reactions. J Clin Neurosci. 2011 Jul 27

    88. Prommajan K, Ausavarat S, Srichomthong C, Puangsricharern V, Suphapeetiporn K, Shotelersuk V. A novel p.E276K IDUA mutation decreasing alpha-L-iduronidase activity causes mucopolysaccharidosis type I. Mol Vis. 2011;17:456-60

    89. Suphapeetiporn K, Srichomthong C, Shotelersuk V. SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. Clin Genet. 2011 Apr;79(4):391-3

    90. 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. 2011 Aug;40(1):62-6

    91. Li R, Yang W, Zhang J, Hirankarn N, Pan HF, Mok C, Chan T, Wong R, Mok M, Lee K, Wong S, Leung A, Li XP, Avihingsanon Y, Lee T, Ho M, Lee P, Wong W, Wong CM, Ng I, Yang J, Li P, Zhang Y, Zhang L, Li W, Baum L, Kwan P, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Shotelersuk V, Garcia-Barceló MM, Cherny S, Tam PH, Sham P, Lau C, Shen N, Lau Y, Ye DQ. Association of CD247 with systemic lupus erythematosus in Asian populations. Lupus. 2012;21(1):75-83

    92. Rattanasopha S, Tongkobpetch S, Srichomthong C, Siriwan P, Suphapeetiporn K, Shotelersuk V. PDGFRa Mutations in Humans with Isolated Cleft Palate. Eur J Hum Genet. 2012 Oct;20(10):1058-62. (IF-2010 4.380)

    93. Katavetin P, Poonmaksatit S, Prasongchin P, Tepmongkol S, Suphapeetiporn K, Shotelersuk V. Safety and efficacy of menatetrenone in children with osteogenesis imperfect. Asian Biomed. 2012;6(1):75-79

    94. 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. 2012;499(2):323-5

    95. Yeetong P, Ausavarat S, Bhidayasiri R, Piravej K, Pasutharnchat N, Desudchit T, Chunharas C, Loplumlert J, Limotai C, Suphapeetiporn K, Shotelersuk V. A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28. European journal of human genetics : EJHG. 2012

    96. Vatanavicharn N, Champattanachai V, Liammongkolkul S, Sawangareetrakul P, Keeratichamroen S, Ketudat Cairns JR, Srisomsap C, Sathienkijkanchai A, Shotelersuk V, Kamolsilp M, Wattanasirichaigoon D, Svasti J, Wasant P. Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. Mol Genet Metab. 2012;106(4):424-9

    97. 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. Am J Med Genet A. 2012 Sep;158A(9):2124-30

    98. Klomchan T, Supornsilchai V, Wacharasindhu S, Shotelersuk V, Sahakitrungruang T. Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency. Eur J Pediatr. 2012 Oct;171(10):1559-62

    99. 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. Scand J Immunol. 2012 Oct 3

    100. Plengpanich W, Tongkobpetch S, Shotelersuk V, Le Goff W, Khovidhunkit W. Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia. Clin Chim Acta. 2012 Dec 5;416C:92-95

    101. 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, Lau CS, Li Y, Chan TM, Yin X, Ying D, Lu Q, Leung AM, Zuo X, Chen X, Tong KL, Zhou F, Diao Q, Tse NK, Xie H, Mok CC, Hao F, Wong SN, Shi B, Lee KW, Hui Y, Ho MH, Liang B, Lee PP, Cui H, Guo Q, Chung BH, Pu X, Liu Q, Zhang X, Zhang C, Chong CY, Fang H, Wong RW, Sun Y, Mok MY, Li XP, Avihingsanon Y, Zhai Z, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Gao F, Shotelersuk V, Kang X, Ying SK, Zhang L, Wong WH, Zhu D, Fung SK, Zeng F, Lai WM, Wong CM, Ng IO, Garcia-Barceló MM, Cherny SS, Shen N, Tam PK, Sham PC, Ye DQ, Yang S, Zhang X, Lau YL. Meta-Analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians. Am J Hum Genet. 2012 Dec 22

    102. Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome. J Craniofac Surg. 2013 Jan;24(1):150-2

    103. 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. J Hum Genet. 2013 Sep;58(9):594-9

    104. 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, Shotelersuk V. DcR3 Mutations in Patients with Juvenile-onset Systemic Lupus Erythematosus Lead to Enhanced Lymphocyte Proliferation. J Rheumatol. 2013 Aug;40(8):1316-1326

    105. Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi JI, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura KI, Matsumoto N, Niikawa N. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A. 2013 Sep;161(9):2234-43

    106. 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. Hum Genet. 2013 Dec;132(12):1383-93

    107. Rugpolmuang R, Deeb A, Hassan Y, Deekajorndech T, Shotelersuk V, Sahakitrungruang T. Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy. J Pediatr Endocrinol Metab. 2014 Jan 1;27(1-2):193-7

    108. 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, Lee KW, Ho MH, Lee PP, Chung BH, Chong CY, Wong RW, Mok MY, Wong WH, Tong KL, Tse NK, Li XP, Avihingsanon Y, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Shotelersuk V, Ying SK, Fung SK, Lai WM, Garcia-Barceló MM, Cherny SS, Tam PK, Cui Y, Sham PC, Yang S, Ye DQ, Zhang XJ, Lau YL, Yang W. Three SNPs in chromosome 11q23.3 are independently associated with systemic lupus erythematosus in Asians. Hum Mol Genet. 2014 Jan 15;23(2):524-33

    109. 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. Pediatr Int. 2013 Oct;55(5):651-5

    110. Srichomthong C, Ittiwut R, Siriwan P, Suphapeetiporn K, Shotelersuk V. FOXE1 mutations in Thai patients with oral clefts. Genet Res (Camb). 2013 Oct;95(5):133-7

    111. 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. Arch Immunol Ther Exp (Warsz). 2014 Oct;62(5):431-6

    112. Rerknimitr P, Korkij W, Wititsuwannakul J, Panmontha W, Suphapeetiporn K, Shotelersuk V. Expanding phenotypic spectrum of familial comedones. Dermatology. 2014;228(3):215-9

    113. 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 Disease. J Clin Endocrinol Metab. 2014 Aug;99(8):E1487-92

    114. Shotelersuk V, Limwongse C, Mahasirimongkol S. Genetics and genomics in Thailand: challenges and opportunities. Mol Genet Genomic Med. 2014 May;2(3):210-6

    115. 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. 2014 Jun 20;9(6):e100191

    116. Norbnop P, Srichomthong C, Suphapeetiporn K, Shotelersuk V. ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers. J Hum Genet. 2014 Aug;59(8):467-70

    117. 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. Br J Ophthalmol. 2014 Oct;98(10):1460-2

    118. 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, Lau CS, Chan TM, Leung AM, Mok CC, Wong SN, Lee KW, Ho MH, Lee PP, Chung BH, Chong CY, Wong RW, Mok MY, Wong WH, Tong KL, Tse NK, Li XP, Avihingsanon Y, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Shotelersuk V, Ying SK, Fung SK, Lai WM, Wong CM, Ng IO, Garcia-Barcelo MM, Cherny SS, Tam PK, Sham PC, Yang S, Ye DQ, Cui Y, Zhang XJ, Lau YL, Yang W. Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus. Hum Mol Genet. 2015 Jan 1;24(1):274-84

    119. 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. J Med Genet. 2014 Dec;51(12):817-23

    120. 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. Thromb Haemost. 2014 Dec 18;113(3)

    121. Avihingsanon A, Tongkobpetch S, Kerr SJ, Punyawudho B, Suphapeetiporn K, Gorowara M, Ruxrungtham K, Shotelersuk V. Pharmacogenetic testing can identify patients taking atazanavir at risk for hyperbilirubinaemia. J Acquir Immune Defic Syndr. 2015 Jan 23

    122. Zhang Y, Yang J, Zhang J, Sun L, Hirankarn N, Pan HF, Lau CS, Chan TM, Lee TL, Leung AM, Mok CC, Zhang L, Wang Y, Shen JJ, Wong SN, Lee KW, Ho MH, Lee PP, Chung BH, Chong CY, Wong RW, Mok MY, Wong WH, Tong KL, Tse NK, Li XP, Avihingsanon Y, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Shotelersuk V, Ying SK, Fung SK, Lai WM, Wong CM, Ng IO, Garcia-Barcelo MM, Cherny SS, Cui Y, Sham PC, Yang S, Ye DQ, Zhang XJ, Lau YL, Yang W. Genome-wide search followed by replication reveals genetic interaction of CD80 and ALOX5AP associated with systemic lupus erythematosus in Asian populations. Ann Rheum Dis. 2015 Apr 10

    123. Zhang Y, Wang Y, Yang J, Zhang J, Sun L, Hirankarn N, Pan HF, Lau CS, Chan TM, Lee TL, Leung AM, Mok CC, Zhang L, Shen JJ, Wong SN, Lee KW, Ho MH, Lee PP, Chung BH, Chong CY, Wong RW, Mok MY, Wong WH, Tong KL, Tse NK, Li XP, Avihingsanon Y, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Shotelersuk V, Ying SK, Fung SK, Lai WM, Wong CM, Ng IO, Garcia-Barcelo MM, Cherny SS, Tam PK, Sham PC, Yang S, Ye DQ, Cui Y, Zhang XJ, Yang W, Lau YL. Meta-analysis of two Chinese populations identifies an autoimmune disease risk allele in 22q11.21 as associated with systemic lupus erythematosus. Arthritis Res Ther. 2015 Mar 20;17(1):67

    124. Huang Y, Yang J, Ying D, Zhang Y, Shotelersuk V, Hirankarn N, Sham PC, Lau YL, Yang W. HLAreporter: a tool for HLA typing from next generation sequencing data. Genome Med. 2015 Mar 16;7(1):25. doi: 10.1186/s13073-015-0145-3

    125. Chaiyasapa P, Srichomthongb C, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family. AsianBioMed 9(2) April 2015

    126. Panmontha W, Rerknimitr P, Yeetong P, Srichomthong C, Suphapeetiporn K, Shotelersuk V. A Frameshift Mutation in PEN-2 Causes Familial Comedo Syndrome. Dermatology. 2015 May 30

    127. 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, Wong SN, Lee KW, Ho MH, Lee PP, Chung BH, Chong CY, Wong RW, Mok MY, Wong WH, Tong KL, Tse NK, Li XP, Avihingsanon Y, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Shotelersuk V, Ying SK, Fung SK, Lai WM, Garcia-Barceló MM, Cherny SS, Sham PC, Cui Y, Yang S, Ye DQ, Zhang XJ, Lau YL, Yang W. Gene-based meta-analysis of GWAS data identifies independent SNPs in ANXA6 as associated with SLE in Asian populations. Arthritis Rheumatol. 2015 Nov;67(11):2966-77

    128. Thiboonboon K, Leelahavarong P, Wattanasirichaigoon D, Vatanavicharn N, Wasant P, Shotelersuk V, Pangkanon S, Kuptanon C, Chaisomchit S, Teerawattananon Y. An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand. PLoS One. 2015 Aug 10;10(8):e0134782

    129. 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. Pediatr Allergy Immunol. 2015 Sep 11

    130. Chiengthong K, Ittiwut C, Muensri S, Sophonphan J, Sosothikul D, Seksan P, Suppipat K, Suphapeetiporn K, Shotelersuk V. NUDT15 c.415C>T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia. Haematologica. 2016 Jan;101(1):e24-6

    131. 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. Genet Mol Res. 2015 Oct 30;14(4):14130-5

    132. 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. 2015: 2, 15033; doi:10.1038/hgv.201

    133. 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. Genet Mol Res. 2016 Mar 11;15(1)

    134. 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. Genet Test Mol Biomarkers. 2016 Jul;20(7):406-9

    135. 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 Endocr Disord. 2016 Jun 17;16(1):37

    136. 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, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nat Commun. 2016 Jul 6;7:11920

    137. Panmontha W, Amarinthnukrowh P, Damrongphol P, Desudchit T, Suphapeetiporn K, Shotelersuk V. Novel mutations in the FUCA1 gene that cause fucosidosis. Genet Mol Res. 2016 Sep 16;15(3). doi: 10.4238/gmr.15038733

    138. 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. Genet Test Mol Biomarkers. 2016 Oct 31

    139. 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. J Pediatr Endocrinol Metab. 2016 Nov 16

    140. 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 Med Genet. 2016 Dec 12;17(1):96

    141. Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BH, Mok GT, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CA, Addissie YA, Pardo KL, Brough JJ, Lee NC, Girisha KM, Patil SJ, Ng IS, Min BC, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Richieri-Costa A, Muthukumarasamy P, Thong MK, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M. Down syndrome in diverse populations. Am J Med Genet A. 2017 Jan;173(1):42-53

    142. Porntaveetus T, Srichomthong C, Ohazama A, Suphapeetiporn K, Shotelersuk V. A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel. Oral Dis. 2017 Mar 4

    143. 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 Med Genet. 2017 Mar 4;18(1):25

    144. Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. 22q11.2 deletion syndrome in diverse populations. Am J Med Genet A. 2017 Apr;173(4):879-888

    145. 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 J Pediatr. 2017 May 9

    146. Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. Noonan syndrome in diverse populations.Am J Med Genet A. 2017 Sep;173(9):2323-2334

    147. Ittiwut R, Suchartlikitwong P, Kittikalayawong Y, Ittiwut C, Prasopsanti K, Sosothikul D, Shotelersuk V, Suphapeetiporn K. Novel Mutations in Thai Patients with Glanzmann Thrombasthenia. Eur J Haematol. 2017 Sep 9. doi: 10.1111/ejh.12965

    148. 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 Med Genet. 2017 Sep 16;18(1):102

    149. Porntaveetus T, Srichomthong C, Suphapeetiporn K, Shotelersuk V. Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. Am J Med Genet A. 2017 Oct;173(10):2747-2752

    150. 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 Dis. 2017 Nov 8. doi: 10.1111/odi.12801

    151. Intarak N, Theerapanon T, Ittiwut C, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. A novel PITX2 mutation in non-syndromic oro-dental anomalies. Oral Dis. 2017 Nov 9. doi: 10.1111/odi.12804

    152. Phowthongkum P, Ittiwut C, Shotelersuk V. Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation. JIMD Rep. 2017 Nov 21. doi: 10.1007/8904_2017_74

    153. 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. Genet Mol Biol. 2017 Oct-Dec;40(4):763-767

    154. Wejjakul W, Chatmaitri S, Wattanarojanaporn T, Pongkunakorn A, Ittiwut C, Shotelersuk V. Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review. J Orthop Case Rep. 2017 Sep-Oct;7(5):54-58

    155. 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. Br J Dermatol. 2018 Mar 11. doi: 10.1111/bjd.16541

    156. 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. Clin Oral Investig. 2018 Apr 20. doi: 10.1007/s00784-018-2437-7

    157. Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M. Williams-Beuren syndrome in diverse populations. Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672

    158. 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 KMT2D and KDM6A in Human Tooth Germs. Int J Biol Sci. 2018 Mar 9;14(4):381-389. doi: 10.7150/ijbs.23517

    159. 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 Radiol. 2018 May 10. doi: 10.1007/s00256-018-2963-z

    160. Uaariyapanichkul J, Chomtho S, Suphapeetiporn K, Shotelersuk V, Punnahitananda S, Chinjarernpan P, Suteerojntrakool O. Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry. J Nutr Metab. 2018 May 6;2018:5124035. doi: 10.1155/2018/5124035

    161. Nowwarote N, Theerapanon T, Osathanon T, Pavasant P, Porntaveetus T, Shotelersuk V. Amelogenesis Imperfecta: A Novel FAM83H Mutation and Characteristics of Periodontal Ligament Cells. Oral Dis. 2018 Jun 27. doi: 10.1111/odi.12926

    162. 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 Med Genet. 2018 Jul 16;19(1):117. doi: 10.1186/s12881-018-0639-0

    163. Porntaveetus T, Theerapanon T, Srichomthong C, Shotelersuk V. Cole-Carpenter syndrome in a patient from Thailand. Am J Med Genet A. 2018 Jul 31. doi: 10.1002/ajmg.a.40358

    164. Udomsilp P, Saepoo S, Ittiwut R, Shotelersuk V, Dissayabutra T, Boonla C, Tosukhowong P. rs11567842 SNP in SLC13A2 gene associates with hypocitraturia in Thai patients with nephrolithiasis. Genes Genomics. 2018 Sep;40(9):965-972. doi: 10.1007/s13258-018-0702-4

    165. 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. Br J Haematol. 2018 Sep 10. doi: 10.1111/bjh.15559

    166. 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. 2018 Sep 14;679:377-381. doi: 10.1016/j.gene.2018.09.026

    167. Noree C, Monfort E, Shotelersuk V. Human asparagine synthetase associates with the mitotic spindle. Biol Open. 2018 Dec 14;7(12). pii: bio038307. doi: 10.1242/bio.038307

    168. Konjikusic MJ, Yeetong P, Boswell CW, Lee C, Roberson EC, Ittiwut R, Suphapeetiporn K, Ciruna B, Gurnett CA, Wallingford JB, Shotelersuk V, Gray RS. (*co-corresponding author) Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development. PLoS Genet. 2018 Nov 26;14(11):e1007817. doi: 10.1371/journal.pgen.1007817

    169. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 Jan 6. doi: 10.1002/ajmg.a.61033

    170. Suthiworachai C, Tammachote R, Srichomthong C, Ittiwut R, Suphapeetiporn K, Sahakitrungruang T, Shotelersuk V. Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita. J Endocr Soc. 2018 Dec 12;3(1):171-180. doi: 10.1210/js.2018-00270

    171. 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. 2019 Feb 14;696:21-27

    172. Sinthuwiwat T, Ittiwut C, Porntaveetus T, Shotelersuk V. Female-restricted syndromic intellectual disability in a patient from Thailand. Am J Med Genet A. 2019 Mar 3. doi: 10.1002/ajmg.a.61106

    173. Intarak N, Theerapanon T, Thaweesapphithak S, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders. Mol Genet Genomics. 2019 Mar 18. doi: 10.1007/s00438-019-01547-x

    174. Shotelersuk V, Tongsima S, Pithukpakorn M, Eu-Ahsunthornwattana J, Mahasirimongkol S. Precision medicine in Thailand. Am J Med Genet C Semin Med Genet. 2019 Mar 19. doi: 10.1002/ajmg.c.31694

    175. Manaspon C, Thaweesapphithak S, Osathanon T, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia. Br J Dermatol. 2019 Aug;181(2):419-420. doi: 10.1111/bjd.18007. Epub 2019 May 14

    176. Budsamongkol T, Intarak N, Theerapanon T, Yodsanga S, Porntaveetus T, Shotelersuk V. A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly. Genes Dis. 2019 Mar 16;6(2):138-146

    177. Phowthongkum P, Suphapeetiporn K, Shotelersuk V. Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists. Clin Mol Hepatol. 2019 Jun 24

    178. 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 Res. 2019 Jun 29;39:101493

    179. 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. Int J Hematol. 2019 Jul 26

    180. Dejkhamron P, Ittiwut C, TangNgam H, Sunkonkit K, Natesirinilkul R, Suphapeetiporn K, Shotelersuk V. A Novel GNAS Mutation Causing Isolated Infantile Cushing’s Syndrome. Horm Res Paediatr. 2019 Jul 30:1-7. doi: 10.1159/000501169

    181. 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. 2019 Sep 20. pii: awz267. doi: 10.1093/brain/awz267

    182. 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 (Lond). 2019 Sep 25. doi: 10.1038/s41433-019-0595-8

    183. 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. J Clin Immunol. 2019 Nov 9. doi: 10.1007/s10875-019-00693-6

    184. Nowwarote N, Osathanon T, Kanjana K, Theerapanon T, Porntaveetus T, Shotelersuk V. Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation. Genes Dis. 2019 Jul 29;6(4):391-397. doi: 10.1016/j.gendis.2019.07.005

    185. Rakmanotham A, Ittiwut R, Komwilaisak P, Shotelersuk V, Sosothikul D, Suphapeetiporn K. A novel deletion in the fibrinogen beta chain (FGB) gene causing hypofibrinogenemia. Thromb Res. 2020 Feb;186:26-29. doi: 10.1016/j.thromres.2019.12.006

    186. Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M. Turner syndrome in diverse populations. Am J Med Genet A. 2020 Feb;182(2):303-313. doi: 10.1002/ajmg.a.61461

    187. Gasser M, Boonsimma P, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Krenn M, Zimprich F, Milenkovic I, Abicht A, Biskup S, Roser T, Shotelersuk V, Tacke M, Kuersten M, Wagner M, Borggraefe I, Suphapeetiporn K, von Stülpnagel C. ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response. J Clin Neurosci. 2020 Feb;72:31-38. doi: 10.1016/j.jocn.2020.01.041

    188. Udomchaiprasertkul W, Kuptanon C, Porntaveetus T, Shotelersuk V. A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2. Eur J Med Genet. 2020 Feb 17:103896. doi: 10.1016/j.ejmg.2020.103896. PMID: 32081708

    189. 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 LHX4 and COL1A2. J Adv Res. 2019 Oct 21;21:121-127. doi: 10.1016/j.jare.2019.10.006. PMID: 32071780

    190. 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. Eur J Med Genet. 2020 Mar 30:103924. doi: 10.1016/j.ejmg.2020.103924. PMID: 32240825

    191. Nitayavardhana I, Theerapanon T, Srichomthong C, Piwluang S, Wichadakul D, Porntaveetus T, Shotelersuk V. Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra. Mol Genet Genomics. 2020 Apr 3. doi: 10.1007/s00438-020-01668-8. PMID: 32246227

    192. 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 Dev. 2020 Apr 2. pii: S0387-7604(20)30111-X. doi: 10.1016/j.braindev.2020.03.005. PMID: 32249079

    193. 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. 2020 Apr 24:144709. doi: 10.1016/j.gene.2020.144709. PMID: 32339621

    194. Norbnop P, Ingrungruanglert P, Israsena N, Suphapeetiporn K, Shotelersuk V. Generation and characterization of HLA-universal platelets derived from induced pluripotent stem cells. Sci Rep. 2020 May 21;10(1):8472. doi: 10.1038/s41598-020-65577-x. PMID: 32439978

    195. Chaivichacharn P, Avihingsanon A, Manosuthi W, Ubolyam S, Tongkobpetch S, Shotelersuk V, Punyawudho B. Dosage Optimization of Efavirenz Based on a Population Pharmacokinetic-Pharmacogenetic Model of HIV-infected Patients in Thailand. Clin Ther. 2020 May 22:S0149-2918(20)30231-9. doi: 10.1016/j.clinthera.2020.04.013. PMID: 32451120

    196. Phokaew C, Sittiwangkul R, Suphapeetiporn K, Shotelersuk V. Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes. Eur J Med Genet. 2020 Jun 11;63(9):103982. doi: 10.1016/j.ejmg.2020.103982. PMID: 32534992

    197. 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. J Pediatr Hematol Oncol. 2020 Sep 9. doi: 10.1097/MPH.0000000000001937

    198. Yeetong P, Chunharas C, Pongpanich M, Bennett MF, Srichomthong C, Pasutharnchat N, Suphapeetiporn K, Bahlo M, Shotelersuk V. Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1. Eur J Hum Genet. 2020 Sep 24. doi: 10.1038/s41431-020-00729-1

    199. 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. Neuromuscul Disord. 2020 Aug 29:S0960-8966(20)30563-0. doi: 10.1016/j.nmd.2020.08.362. PMID: 32978031

    200. Intarak N, Budsamongkol T, Theerapanon T, Chanamuangkon T, Srijunbarl A, Boonprakong L, Porntaveetus T, Shotelersuk V. Tooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra. Oral Dis. 2020 Sep 29. doi: 10.1111/odi.13657. PMID: 32989910

    201. 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. Eur J Med Genet. 2020 Oct 9;63(12):104086. doi: 10.1016/j.ejmg.2020.104086. PMID: 33045405

    202. Athipongarporn A, Ittiwut C, Manuyakorn W, Assawawiroonhakarn S, Larbcharoensub N, Shotelersuk V. Diagnosis of Hyper IgM syndrome in a Previously Healthy Adolescent Boy Presented with Cutaneous and Cerebral Cryptococcosis. Pediatr Infect Dis J. 2020 Oct 13. doi: 10.1097/INF.0000000000002945. PMID: 33060515

    203. 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 Dev. 2020 Nov 12:S0387-7604(20)30294-1. doi: 10.1016/j.braindev.2020.10.016

    204. Cheawsamoot C, Phokaew C, Chetruengchai W, Chantranuwat P, Puwanant S, Tongsima S, Khongphathanayothin A, Shotelersuk V. A Pathogenic Variant in ALPK3 Is Associated with an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy. Circ Genom Precis Med. 2020 Nov 15. doi: 10.1161/CIRCGEN.120.003127

    205. 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. Medicine (Baltimore). Whole exome sequencing for diagnosis of hereditary thrombocytopenia. 2020 Nov 20;99(47):e23275

    206. Ittiwut R, Sengpanich K, Lauhasurayotin S, Ittiwut C, Shotelersuk V, Sosothikul D, Suphapeetiporn K. Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia. J Clin Pathol. 2020 Dec 14:jclinpath-2020-207139. doi: 10.1136/jclinpath-2020-207139. PMID: 33318085

    207. Kanchanasevee C, Sriwattanapong K, Theerapanon T, Thaweesapphithak S, Chetruengchai W, Porntaveetus T, Shotelersuk V. Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants. Front Physiol. 2020 Nov 19;11:573214. doi: 10.3389/fphys.2020.573214. eCollection 2020. PMID: 33329022

    208. Songsantiphap C, Suwanwatana J, Ittiwut C, Asawanonda P, Rerknimitr P, Shotelersuk V. Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7. Case Rep Dermatol. 2020 Nov 17;12(3):241-248. doi: 10.1159/000509535. eCollection 2020 Sep-Dec. PMID: 33362511

    209. Sriwattanapong K, Nitayavardhana I, Theerapanon T, Thaweesapphithak S, Chantarawaratit PO, Garuyakich R, Phokaew C, Porntaveetus T, Shotelersuk V. Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta. Oral Dis. 2021 Jan 24. doi: 10.1111/odi.13780. PMID: 33486840

    210. Sriwattanapong K, Rojnueangnit K, Theerapanon T, Srichomthong C, Porntaveetus T, Shotelersuk V. Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of POLG c.3286C>T Variant. Int J Neonatal Screen. 2021 Feb 5;7(1):9. doi: 10.3390/ijns7010009. PMID: 33562887

    211. Traisrisilp K, Chankhunaphas W, Sittiwangkul R, Phokaew C, Shotelersuk V, Tongsong T. Prenatal Sonographic Features of CHARGE Syndrome. Diagnostics (Basel). 2021 Feb 28;11(3):415. doi: 10.3390/diagnostics11030415. PMID: 33671041

    212. Isaranuwatchai S, Chanakul A, Ittiwut C, Srichomthong C, Shotelersuk V, Praditpornsilpa K, Suphapeetiporn K. Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma. Nephron. 2021 Mar 16:1-6. doi: 10.1159/000514293. PMID: 33725694

    213. Nutchoey O, Intarak N, Theerapanon T, Thaweesapphithak S, Boonprakong L, Srijunbarl A, Porntaveetus T, Shotelersuk V. Phenotypic features of dentinogenesis imperfecta associated with osteogenesis imperfecta and COL1A2 mutations. Oral Surg Oral Med Oral Pathol Oral Radiol. 2021 Jan 9:4544. doi: 10.1016/j.oooo.2021.01.003

    214. Caengprasath N, Theerapanon T, Porntaveetus T, Shotelersuk V. MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. J Transl Med. 2021 Mar 20;19(1):114. doi: 10.1186/s12967-021-02779-5. PMID: 33743732

    215. Kamolvisit W, Phowthongkum P, Boonsimma P, Kuptanon C, Rojnueangnit K, Wattanasirichaigoon D, Chanvanichtrakool M, Phuaksaman C, Wiromrat P, Srichomthong C, Ittiwut C, Phokaew C, Ittiwut R, Assawapitaksakul A, Chetruengchai W, Buasong A, Suphapeetiporn K, Shotelersuk V. Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand. Clin Genet. 2021 Apr 6. doi: 10.1111/cge.13963. PMID: 33822359

    216. Manaspon C, Boonsimma P, Phokaew C, Theerapanon T, Sriwattanapong K, Porntaveetus T, Shotelersuk V. Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10. Am J Med Genet A. 2021 May 26. doi: 10.1002/ajmg.a.62365

    217. Tangsricharoen T, Natesirinilkul R, Phusua A, Fanhchaksai K, Ittiwut C, Chetruengchai W, Juntharaniyom M, Charoenkwan P, Viprakasit V, Phokaew C, Shotelersuk V. Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review. Br J Haematol. 2021 Jul 5. doi: 10.1111/bjh.17616. PMID: 34227100

    218. Urkasemsin G, Pongpanich M, Sariya L, Kongcharoen A, Buddhirongawatr R, Rungarunlert S, Ferreira JN, Chetruengchai W, Phokaew C, Srichomthong C, Shotelersuk V. Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy. Anim Genet. 2021 Jul 6. doi: 10.1111/age.13118. PMID: 34231238

    219. Shotelersuk V, Wichadakul D, Ngamphiw C, Srichomthong C, Phokaew C, Wilantho A, Pakchuen S, Nakhonsri V, Shaw PJ, Wasitthankasem R, Piriyapongsa J, Wangkumhang P, Assawapitaksakul A, Chetruengchai W, Lapphra K, Khuninthong A, Makarawate P, Suphapeetiporn K, Mahasirimongkol S, Satproedprai N, Porntaveetus T, Pisitkun P, Praphanphoj V, Kantaputra P, Tassaneeyakul W, Tongsima S. The Thai Reference Exome (T-REx) Variant Database. Clin Genet. 2021 Sep 8. doi: 10.1111/cge.14060. PMID: 34496037

    220. Nowwarote N, Osathanon T, Fournier BPJ, Theerapanon T, Yodsanga S, Kamolratanakul P, Porntaveetus T, Shotelersuk V. PTEN regulates proliferation and osteogenesis of dental pulp cells and adipogenesis of human adipose-derived stem cells. Oral Dis. 2021 Sep 24. doi: 10.1111/odi.14030. PMID: 34558757

    221. Sriwattanapong K, Sa-Ard-Iam N, Boonprakong L, Subbalekha K, Trachoo V, Suratannon N, Porntaveetus T, Shotelersuk V. Reduced ELANE and SLPI expression compromises dental pulp cell activity. Cell Prolif. 2021 Sep 27:e13132. doi: 10.1111/cpr.13132. PMID: 34580954

    222. Chetruengchai W, Shotelersuk V. Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes. J Hum Genet. 2021 Oct 8. doi: 10.1038/s10038-021-00982-2. PMID: 34621001

    223. Tengsujaritkul M, Suratannon N, Ittiwut C, Ittiwut R, Chatchatee P, Suphapeetiporn K, Shotelersuk V. Phenotypic Heterogeneity and Genotypic Spectrum of Inborn Errors of Immunity Identified through Whole Exome Sequencing in a Thai Patient Cohort. Pediatr Allergy Immunol. 2021 Nov 19. doi: 10.1111/pai.13701. PMID: 34796988

    224. Chamnanphon M, Pongpanich M, Suttichet TB, Jantarabenjakul W, Torvorapanit P, Putcharoen O, Sodsai P, Phokaew C, Hirankarn N, Chariyavilaskul P, Shotelersuk V. Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population. J Hum Genet. 2022 Jan 11. doi: 10.1038/s10038-021-01009-6. PMID: 35013560

    225. Wankaew N, Chariyavilaskul P, Chamnanphon M, Assawapitaksakul A, Chetruengchai W, Pongpanich M, Shotelersuk V. Genotypic and phenotypic landscapes of 51 pharmacogenes derived from whole-genome sequencing in a Thai population. PLoS One. 2022 Feb 17;17(2):e0263621. doi: 10.1371/journal.pone.0263621. PMID: 35176049

    226. Intarak N, Theerapanon T, Porntaveetus T, Shotelersuk V. Patterns of molar agenesis associated with p.P20L and p.R77Q variants in PAX9. Eur J Oral Sci. 2022 Feb 19:e12855. doi: 10.1111/eos.12855. PMID: 35182440

    227. Yeewa R, Chaiya P, Jantrapirom S, Shotelersuk V, Lo Piccolo L. Multifaceted roles of YEATS domain-containing proteins and novel links to neurological diseases. Cell Mol Life Sci. 2022 Mar 12;79(3):183. doi: 10.1007/s00018-022-04218-0. PMID: 35279775 Review

    228. Tantirukdham N, Sahakitrungruang T, Chaisiwamongkol R, Pongpanich M, Srichomthong C, Assawapitaksakul A, Buasong A, Tongkobpetch S, Yeetong P, Shotelersuk V. Long-read amplicon sequencing of the CYP21A2 in 48 Thai patients with steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2022 Apr 1:dgac187. doi: 10.1210/clinem/dgac187. PMID: 35363313

    229. Faruangsaeng T, Thaweesapphitak S, Khamwachirapitak C, Porntaveetus T, Shotelersuk V. Comparative transcriptome profiles of human dental pulp stem cells from maxillary and mandibular teeth. Sci Rep. 2022 May 25;12(1):8860. doi: 10.1038/s41598-022-12867-1. PMID: 35614192

    230. Thaweesapphithak S, Saengsin J, Kamolvisit W, Theerapanon T, Porntaveetus T, Shotelersuk V. Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations. J Appl Oral Sci. 2022 Jun 6;30:e20220028. doi: 10.1590/1678-7757-2022-0028. eCollection 2022. PMID: 35674542

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