A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency
Pongphitcha, Pongpak, Sirachainan, Nongnuch, Khongkraparn, Arthaporn, Tim-Aroon, Thipwimol, Songdej, Duantida, Wattanasirichaigoon, Duangrurdee
Published in BMC pediatrics (29.04.2022)
Published in BMC pediatrics (29.04.2022)
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Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia
Udomkittivorakul, Natsumon, Wattanasirichaigoon, Duangrurdee, Manuyakorn, Wiparat, Pongphitcha, Pongpak, Khongkraparn, Arthaporn, Tunlayadechanont, Padcha, Sirachainan, Nongnuch
Published in Platelets (Edinburgh) (04.07.2022)
Published in Platelets (Edinburgh) (04.07.2022)
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Effects of an animated educational video on knowledge of cell-free DNA screening among Thai pregnant women: a randomized control trial
Nintao, Nutta, Manonai, Jittima, Wattanayingcharoenchai, Rujira, Bumrungphuet, Sommart, Hansahiranwadee, Wirada, Dulyaphat, Wirada, Somchit, Werapath, Wattanasirichaigoon, Duangrurdee, Prakobpanich, Maneerat, Tangshewinsirikul, Chayada
Published in BMC pregnancy and childbirth (11.12.2023)
Published in BMC pregnancy and childbirth (11.12.2023)
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Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing
Rojnueangnit, Kitiwan, Sirichongkolthong, Boonchu, Wongwandee, Ratthapon, Khetkham, Thanitchet, Noojarern, Saisuda, Khongkraparn, Arthaporn, Wattanasirichaigoon, Duangrurdee
Published in Pediatric cardiology (01.01.2020)
Published in Pediatric cardiology (01.01.2020)
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Journal Article
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients
Phetthong, Tim, Tim-Aroon, Thipwimol, Khongkraparn, Arthaporn, Noojarern, Saisuda, Kuptanon, Chulaluck, Wichajarn, Khunton, Sathienkijkanchai, Achara, Suphapeetiporn, Kanya, Charoenkwan, Pimlak, Tantiworawit, Adisak, Noentong, Naruwan, Wattanasirichaigoon, Duangrurdee
Published in Orphanet journal of rare diseases (20.12.2021)
Published in Orphanet journal of rare diseases (20.12.2021)
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Journal Article
MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance
Thongpradit, Supranee, Jinawath, Natini, Javed, Asif, Noojarern, Saisuda, Khongkraparn, Arthaporn, Tim-Aroon, Thipwimol, Lertsukprasert, Krisna, Suktitipat, Bhoom, Jensen, Laran T, Wattanasirichaigoon, Duangrurdee
Published in Scientific reports (29.07.2020)
Published in Scientific reports (29.07.2020)
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Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability
Phetthong, Tim, Khongkrapan, Arthaporn, Jinawath, Natini, Seo, Go-Hun, Wattanasirichaigoon, Duangrurdee
Published in Genes (07.10.2021)
Published in Genes (07.10.2021)
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Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease
Kangboonruang, Kitsada, Pornsukjantra, Tanapat, Tong-Ngam, Pirut, Chokpanuwat, Tanida, Tim-Aroon, Thipwimol, Wattanasirichaigoon, Duangrurdee, Anurathapan, Usanarat, Hongeng, Suradej, Asavapanumas, Nithi, Bhukhai, Kanit, Tubsuwan, Alisa
Published in Stem cell research (01.12.2023)
Published in Stem cell research (01.12.2023)
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An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand
Thiboonboon, Kittiphong, Leelahavarong, Pattara, Wattanasirichaigoon, Duangrurdee, Vatanavicharn, Nithiwat, Wasant, Pornswan, Shotelersuk, Vorasuk, Pangkanon, Suthipong, Kuptanon, Chulaluck, Chaisomchit, Sumonta, Teerawattananon, Yot
Published in PloS one (10.08.2015)
Published in PloS one (10.08.2015)
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Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand
Wilaiwongsathien, Kalyarat, Wattanasirichaigoon, Duangrurdee, Rattanasiri, Sasivimol, Aonnuam, Chanatpon, Tangshewinsirikul, Chayada, Tim-Aroon, Thipwimol
Published in International journal of neonatal screening (03.05.2023)
Published in International journal of neonatal screening (03.05.2023)
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Journal Article
Growth charts for Thai children with Prader-Willi syndrome aged 0-18 years
Mongkollarp, Nantiya, Tim-Aroon, Thipwimol, Okascharoen, Chusak, Wichajarn, Khunton, Phosuwattanakul, Jeeraparn, Chongviriyaphan, Nalinee, Wattanasirichaigoon, Duangrurdee
Published in Orphanet journal of rare diseases (06.05.2020)
Published in Orphanet journal of rare diseases (06.05.2020)
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Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis
Thewamit, Rapeepat, Khongkhatithum, Chaiyos, Thampratankul, Lunliya, Kamolvisit, Wuttichart, Khongkrapan, Arthaporn, Wattanasirichaigoon, Duangrurdee
Published in Frontiers in pediatrics (08.08.2023)
Published in Frontiers in pediatrics (08.08.2023)
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Journal Article
A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene
Pornsukjantra, Tanapat, Kangboonruang, Kitsada, Tong-Ngam, Pirut, Tim-Aroon, Thipwimol, Wattanasirichaigoon, Duangrurdee, Anurathapan, Usanarat, Hongeng, Suradej, Tubsuwan, Alisa, Bhukhai, Kanit, Asavapanumas, Nithi
Published in Stem cell research (01.04.2022)
Published in Stem cell research (01.04.2022)
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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome
Sousa, Sérgio B, Jenkins, Dagan, Chanudet, Estelle, Tasseva, Guergana, Ishida, Miho, Anderson, Glenn, Docker, James, Ryten, Mina, Sa, Joaquim, Saraiva, Jorge M, Barnicoat, Angela, Scott, Richard, Calder, Alistair, Wattanasirichaigoon, Duangrurdee, Chrzanowska, Krystyna, Simandlová, Martina, Van Maldergem, Lionel, Stanier, Philip, Beales, Philip L, Vance, Jean E, Moore, Gudrun E
Published in Nature genetics (01.01.2014)
Published in Nature genetics (01.01.2014)
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Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis
Thongpradit, Supranee, Jinawath, Natini, Javed, Asif, Jensen, Laran T, Chunsuwan, Issarapa, Rojnueangnit, Kitiwan, Tim-Aroon, Thipwimol, Lertsukprasert, Krisna, Shiao, Meng-Shin, Sirachainan, Nongnuch, Wattanasirichaigoon, Duangrurdee
Published in Frontiers in genetics (09.12.2020)
Published in Frontiers in genetics (09.12.2020)
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Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC , LAMC2 , ITGB4 and COL7A1
Pongmee, Pharuhad, Wittayakornrerk, Sanchawan, Lekwuttikarn, Ramrada, Pakdeeto, Sasikarn, Watcharakuldilok, Piangor, Prempunpong, Chatchay, Tim-Aroon, Thipwimol, Puttanapitak, Chawintee, Wattanasoontornsakul, Piyawan, Junhasavasdikul, Thitiporn, Wongkittichote, Parith, Noojarern, Saisuda, Wattanasirichaigoon, Duangrurdee
Published in Frontiers in genetics (01.04.2022)
Published in Frontiers in genetics (01.04.2022)
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Journal Article
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients
Tim-Aroon, Thipwimol, Wichajarn, Khunton, Katanyuwong, Kamornwan, Tanpaiboon, Pranoot, Vatanavicharn, Nithiwat, Sakpichaisakul, Kullasate, Kongkrapan, Arthaporn, Eu-Ahsunthornwattana, Jakris, Thongpradit, Supranee, Moolsuwan, Kanya, Satproedprai, Nusara, Mahasirimongkol, Surakameth, Lerksuthirat, Tassanee, Suktitipat, Bhoom, Jinawath, Natini, Wattanasirichaigoon, Duangrurdee
Published in BMC pediatrics (07.01.2021)
Published in BMC pediatrics (07.01.2021)
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Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience
Suwannachat, Sukrit, Wattanasirichaigoon, Duangrurdee, Arunakul, Jiraporn, Chirdkiatgumchai, Vilawan, Tim-Aroon, Thipwimol
Published in Journal of community genetics (01.04.2020)
Published in Journal of community genetics (01.04.2020)
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Journal Article
1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome
Tim‐Aroon, Thipwimol, Jinawath, Natini, Thammachote, Weerin, Sinpitak, Praweena, Limrungsikul, Anchalee, Khongkhatithum, Chaiyos, Wattanasirichaigoon, Duangrurdee
Published in American journal of medical genetics. Part A (01.03.2017)
Published in American journal of medical genetics. Part A (01.03.2017)
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