TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4
Yeetong, Patra, Pongpanich, Monnat, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Shotelersuk, Varote, Tantirukdham, Nithiphut, Chunharas, Chaipat, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in Brain (London, England : 1878) (01.11.2019)
Published in Brain (London, England : 1878) (01.11.2019)
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Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1
Yeetong, Patra, Chunharas, Chaipat, Pongpanich, Monnat, Bennett, Mark F, Srichomthong, Chalurmpon, Pasutharnchat, Nath, Suphapeetiporn, Kanya, Bahlo, Melanie, Shotelersuk, Vorasuk
Published in European journal of human genetics : EJHG (01.02.2021)
Published in European journal of human genetics : EJHG (01.02.2021)
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Journal Article
De novo genome assembly and transcriptome sequencing in foot and mantle tissues of Megaustenia siamensis reveals components of adhesive substances
Chetruengchai, Wanna, Jirapatrasilp, Parin, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Pholyotha, Arthit, Tongkerd, Piyoros, Shotelersuk, Vorasuk, Panha, Somsak
Published in Scientific reports (14.06.2024)
Published in Scientific reports (14.06.2024)
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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
Lindert, Uschi, Cabral, Wayne A, Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Ludin, Katja, Barnes, Aileen M, Yeetong, Patra, Weis, Maryann, Krabichler, Birgit, Srichomthong, Chalurmpon, Makareeva, Elena N, Janecke, Andreas R, Leikin, Sergey, Röthlisberger, Benno, Rohrbach, Marianne, Kennerknecht, Ingo, Eyre, David R, Suphapeetiporn, Kanya, Giunta, Cecilia, Marini, Joan C, Shotelersuk, Vorasuk
Published in Nature communications (06.07.2016)
Published in Nature communications (06.07.2016)
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Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra
Nitayavardhana, Issree, Theerapanon, Thanakorn, Srichomthong, Chalurmpon, Piwluang, Sakkayaphab, Wichadakul, Duangdao, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Published in Molecular genetics and genomics : MGG (01.07.2020)
Published in Molecular genetics and genomics : MGG (01.07.2020)
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Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis
Isaranuwatchai, Suramath, Chanakul, Ankanee, Ittiwut, Chupong, Ittiwut, Rungnapa, Srichomthong, Chalurmpon, Shotelersuk, Vorasuk, Suphapeetiporn, Kanya, Praditpornsilpa, Kearkiat
Published in Scientific reports (16.01.2023)
Published in Scientific reports (16.01.2023)
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A novel BAG5 variant impairs the ER stress response pathway, causing dilated cardiomyopathy and arrhythmia
Wongong, Rutairat, Kijtawornrat, Anusak, Srichomthong, Chalurmpon, Tongkobpeth, Siraprapa, Od-Ek, Phichittra, Assawapitaksakul, Adjima, Caengprasath, Natarin, Khongphatthanayothin, Apichai, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Published in Scientific reports (25.05.2024)
Published in Scientific reports (25.05.2024)
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HLA-B46:01:01:01 and HLA-DRB109:01:02:01 are associated with anti-rHuEPO-induced pure red cell aplasia
Suttichet, Thitima Benjachat, Chamnanphon, Monpat, Pongpanich, Monnat, Chokyakorn, Sarun, Kupatawintu, Pawinee, Srichomthong, Chalurmpon, Chetruengchai, Wanna, Chuntakaruk, Hathaichanok, Rungrotmongkol, Thanyada, Chariyavilaskul, Pajaree, Shotelersuk, Vorasuk, Praditpornsilpa, Kearkiat
Published in Scientific reports (20.12.2023)
Published in Scientific reports (20.12.2023)
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A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases
Sinthuwiwat, Thivaratana, Buranapraditkun, Supranee, Kamolvisit, Wuttichart, Tongkobpetch, Siraprapa, Chetruengchai, Wanna, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Phokaew, Chureerat, Kueanjinda, Patipark, Palaga, Tanapat, Boonpiyathad, Tadech, Suphapeetiporn, Kanya, Hirankarn, Nattiya, Shotelersuk, Vorasuk
Published in Scientific reports (14.09.2022)
Published in Scientific reports (14.09.2022)
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Comparative genomics and genome-wide SNPs of endangered Eld’s deer provide breeder selection for inbreeding avoidance
Pumpitakkul, Vichayanee, Chetruengchai, Wanna, Srichomthong, Chalurmpon, Phokaew, Chureerat, Pootakham, Wirulda, Sonthirod, Chutima, Nawae, Wanapinun, Tongsima, Sissades, Wangkumhang, Pongsakorn, Wilantho, Alisa, Utara, Yongchai, Thongpakdee, Ampika, Sanannu, Saowaphang, Maikaew, Umaporn, Khuntawee, Suphattharaphonnaphan, Changpetch, Wirongrong, Phromwat, Phairot, Raschasin, Kacharin, Sarnkhaeveerakul, Phunyaphat, Supapannachart, Pannawat, Buthasane, Wannapol, Pukazhenthi, Budhan S, Koepfli, Klaus-Peter, Suriyaphol, Prapat, Tangphatsornruang, Sithichoke, Suriyaphol, Gunnaporn, Shotelersuk, Vorasuk
Published in Scientific reports (13.11.2023)
Published in Scientific reports (13.11.2023)
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Comprehensive genome assembly reveals genetic diversity and carcass consumption insights in critically endangered Asian king vultures
Buthasane, Wannapol, Shotelersuk, Vorasuk, Chetruengchai, Wanna, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Tangphatsornruang, Sithichoke, Pootakham, Wirulda, Sonthirod, Chutima, Tongsima, Sissades, Wangkumhang, Pongsakorn, Wilantho, Alisa, Thongphakdee, Ampika, Sanannu, Saowaphang, Poksawat, Chaianan, Nipanunt, Tarasak, Kasorndorkbua, Chaiyan, Koepfli, Klaus-Peter, Pukazhenthi, Budhan S, Suriyaphol, Prapat, Wongsurawat, Thidathip, Jenjaroenpun, Piroon, Suriyaphol, Gunnaporn
Published in Scientific reports (24.04.2024)
Published in Scientific reports (24.04.2024)
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Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
Chaiyasap, Pongsathorn, Ittiwut, Chupong, Srichomthong, Chalurmpon, Sangsin, Apiruk, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in BMC medical genetics (16.09.2017)
Published in BMC medical genetics (16.09.2017)
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Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs
Porntaveetus, Thantrira, Abid, Mushriq F, Theerapanon, Thanakorn, Srichomthong, Chalurmpon, Ohazama, Atsushi, Kawasaki, Katsushige, Kawasaki, Maiko, Suphapeetiporn, Kanya, Sharpe, Paul T, Shotelersuk, Vorasuk
Published in International journal of biological sciences (01.01.2018)
Published in International journal of biological sciences (01.01.2018)
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Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy
Chaiyasap, Pongsathorn, Kulawonganunchai, Supasak, Srichomthong, Chalurmpon, Tongsima, Sissades, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in PloS one (20.06.2014)
Published in PloS one (20.06.2014)
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The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report
Kuptanon, Chulaluck, Srichomthong, Chalurmpon, Sangsin, Apiruk, Kovitvanitcha, Dool, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in BMC medical genetics (16.07.2018)
Published in BMC medical genetics (16.07.2018)
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A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2
Hemwong, Nalinee, Phokaew, Chureerat, Srichomthong, Chalurmpon, Tongkobpetch, Siraprapa, Srilanchakon, Khomsak, Supornsilchai, Vichit, Suphapeetiporn, Kanya, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Published in Journal of advanced research (01.01.2020)
Published in Journal of advanced research (01.01.2020)
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Genome of Varanus salvator macromaculatus (Asian Water Monitor) Reveals Adaptations in the Blood Coagulation and Innate Immune System
Chetruengchai, Wanna, Singchat, Worapong, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Srikulnath, Kornsorn, Ahmad, Syed Farhan, Phokaew, Chureerat, Shotelersuk, Vorasuk
Published in Frontiers in ecology and evolution (09.06.2022)
Published in Frontiers in ecology and evolution (09.06.2022)
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Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of POLG c.3286C>T Variant
Sriwattanapong, Kanokwan, Rojnueangnit, Kitiwan, Theerapanon, Thanakorn, Srichomthong, Chalurmpon, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Published in International journal of neonatal screening (05.02.2021)
Published in International journal of neonatal screening (05.02.2021)
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Journal Article
A common and two novel GBA mutations in Thai patients with Gaucher disease
Tammachote, Rachaneekorn, Tongkobpetch, Siraprapa, Srichomthong, Chalurmpon, Phipatthanananti, Kampon, Pungkanon, Suthipong, Wattanasirichaigoon, Duangrurdee, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in Journal of human genetics (01.09.2013)
Published in Journal of human genetics (01.09.2013)
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